An interventional study of 5-day sailing activity in Multiple Osteochondroma, Ollier Disease and Osteogenesis Imperfecta, sponsored by Istituto Ortopedico Rizzoli. Completed at 1 site in Italy. Open to participants aged 12 Years and older. Per ClinicalTrials.gov, last updated 2025-03-21.
Sponsored by Istituto Ortopedico Rizzoli · Not applicable, Interventional, and Supportive care
Among 14 studies in Osteogenesis Imperfecta with a site in Italy — 3 open to participants now, 6 under way, 3 of them phase 3. Osteogenesis Imperfecta · Italy.
Among the 14 studies in Osteogenesis Imperfecta with a site in Italy, this one is the 11th largest by enrollment of the 11 interventional ones that give a count, is one of 2 that started in 2024, is one of 4 with no phase, and was the 12th registered.
84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.
Browse Osteogenesis Imperfecta studies →3 of the 14 studies in Osteogenesis Imperfecta with a site in Italy are open now. Recruiting first, the newest first:
Meyer Children's Hospital IRCCS · Sites in Italy
Istituto Ortopedico Rizzoli · Sites in Italy
Luca Sangiorgi · Sites in Italy
A study can be open while its sites in Italy have not opened yet or have stopped. Only those recruiting at a site in Italy →
Of the 14 Osteogenesis Imperfecta studies recruiting now, 4 (29%) set no upper age limit and 8 (57%) stop at 75 or younger; 12 take children under 18; 2 take healthy volunteers.
This study: 12 Years and older · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
14 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 1 · Phase 2 1 · Phase 3 6
First in 2004; this study’s year is marked. 2 started in 2024.
This study's enrollment of 8 is below the median of 28 across 60 interventional studies indexed under Osteogenesis Imperfecta.
Median enrollment 75 across the 11 interventional studies, 40 across the 3 observational. Of the 8 that completed or were terminated, 5 (63%) have results posted.
This tab as a report to print or save as PDF → With an account.
7 of 14 have an industry lead sponsor. The 7 most frequent:
Istituto Ortopedico Rizzoli is the lead sponsor of 304 studies on the registry; 103 are open to participants now.
Istituto Ortopedico Rizzoli has 5 studies filed under Osteogenesis Imperfecta — fewer than ten, so there is no comparison to draw.
1 of the studies in Osteogenesis Imperfecta with a site in Italy that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05972551Phase 3AmgenStudy to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta | 2027-05-04 |
Among the 14 studies in Osteogenesis Imperfecta with a site in Italy, from their registry updates:
Nothing recorded among them since 2026-09-25.
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Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options. Adventure Therapy, employing exposure to natural environments, has shown promise in improving self-esteem, autonomy, and social skills in chronic illness and disability populations. This pilot study explores the feasibility and preliminary efficacy of a sailing-based intervention for enhancing physical, social, and psychological well-being in this specific population.
Outcome Measures The primary outcome is to investigates the feasibility of sailing to improve well-being and quality of life in patients living with rare skeletal disorders.
Furthermore, the investigators hypothesize that participation in a sailing program led by occupational therapists will lead to improvements in:
Methods The study will use a prospective, single-arm, longitudinal design. Eight participants with rare skeletal disorders will be enrolled in a 5-day sailing-based occupational therapy intervention. Comprehensive pre- and post-intervention assessments will measure psychosocial factors, quality of life, functional mobility, kinesiophobia, and body segment movement using questionnaires and functional scales.
Rare skeletal diseases represent a significant global health burden, affecting millions of people worldwide. These chronic, debilitating conditions necessitate the development of optimized clinical pathways and comprehensive support systems.
Adventure therapy (AT) has emerged as a promising intervention for individuals with chronic conditions, demonstrating improvements in self-esteem, autonomy, and social skills. Sailing, a form of AT, offers opportunities for physical activity, social inclusion, and emotional well-being in individuals with disabilities.
This study aims to assess the feasibility of using sailing as an occupational therapy intervention for patients with rare skeletal diseases. We hypothesize that sailing can enhance physical, cognitive, and social functioning in this patient population.
A pilot program of sailing lessons for patients with rare skeletal diseases will be conducted. Participants will undergo assessments of physical, cognitive, and social skills before and after the intervention.
This study will be the first to explore the use of sailing-based AT for this patient population. The findings will inform the development of larger-scale studies and contribute to the optimization of rehabilitation programs for this patient population.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
5-day sailing activity
Other: 5-day sailing activity
* Sailing activity (4 h/die) * Stretching exercises pre and post-sailing activity * Post-activity debriefing
Health-related Quality of Life
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
Time frame: T0: Baseline
Health-related Quality of Life
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
Time frame: T1: up to 2 weeks
Health-related Quality of Life
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
Time frame: T2: up to 3 weeks
Health-related Quality of Life
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
Time frame: T3: up to 3 months
Self-esteem
Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
Time frame: T0: Baseline
Self-esteem
Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
Time frame: T1: up to 2 weeks
Self-esteem
Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
Time frame: T2: up to 3 weeks
Self-esteem
Rosenberg Self-Esteem Scale is a 10-item scale that assesses the self-esteem, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
Time frame: T3: up to 3 months
Motor Coordination
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
Time frame: T0: Baseline
Motor Coordination
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
Time frame: T1: up to 2 weeks
Motor Coordination
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
Time frame: T2: up to 3 weeks
Motor Coordination
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
Time frame: T3: up to 3 months
Balance
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
Time frame: T0: Baseline
Balance
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
Time frame: T1: up to 2 weeks
Balance
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
Time frame: T2: up to 3 weeks
Balance
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
Time frame: T3: up to 3 months
Kinesiophobia
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
Time frame: T0: Baseline
Kinesiophobia
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
Time frame: T2: up to 3 weeks
Kinesiophobia
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
Time frame: T3: up to 3 months
Well-being and Mental Health
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report questionnaire designed to assess psychological distress and monitor treatment response. It consists of 34 items evaluating emotional state and perceived well-being over the past week, rated on a 5-point Likert scale from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores and can be reported in two ways: 1.Raw score: The mean of all item scores (range: 0-4). 2.Standardized score: Obtained by multiplying the raw score by 10, yielding a scale from 0 to 40. The data presented in the results refer to the raw score. Score Interpretation: 0.00-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of the need for intervention. 3.00-4.00: Severe distress, highly indicative of the need for immediate clinical intervention.
Time frame: T0: Baseline
Well-being and Mental Health
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report questionnaire designed to assess psychological distress and monitor treatment response. It consists of 34 items evaluating emotional state and perceived well-being over the past week, rated on a 5-point Likert scale from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores and can be reported in two ways: 1.Raw score: The mean of all item scores (range: 0-4). 2.Standardized score: Obtained by multiplying the raw score by 10, yielding a scale from 0 to 40. The data presented in the results refer to the raw score. Score Interpretation: 0.00-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of the need for intervention. 3.00-4.00: Severe distress, highly indicative of the need for immediate clinical intervention.
Time frame: T2: up to 3 weeks
Well-being and Mental Health
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report questionnaire designed to assess psychological distress and monitor treatment response. It consists of 34 items evaluating emotional state and perceived well-being over the past week, rated on a 5-point Likert scale from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores and can be reported in two ways: 1.Raw score: The mean of all item scores (range: 0-4). 2.Standardized score: Obtained by multiplying the raw score by 10, yielding a scale from 0 to 40. The data presented in the results refer to the raw score. Score Interpretation: 0.00-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of the need for intervention. 3.00-4.00: Severe distress, highly indicative of the need for immediate clinical intervention.
Time frame: T3: up to 3 months
Physical Functioning and Psychological Well-being
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
Time frame: T0: Baseline
Physical Functioning and Psychological Well-being
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
Time frame: T1: up to 2 weeks
Physical Functioning and Psychological Well-being
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
Time frame: T2: up to 3 weeks
Physical Functioning and Psychological Well-being
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
Time frame: T3: up to 3 months
Information on the Functioning and Disability of an Individual
Functional Independence Measure (FIM) is a validated clinician-administered tool designed to assess functional independence in individuals with neurological or musculoskeletal conditions. It evaluates the level of assistance required for daily activities across six domains: self-care, sphincter control, mobility, locomotion, communication, and social cognition. The FIM consists of 18 items, each rated on a 7-point ordinal scale (1 = total assistance, 7 = complete independence), with total scores ranging from 18 to 126. Higher scores indicate greater functional independence.
Time frame: T0
Information on the Functioning and Disability of an Individual
Functional Independence Measure (FIM) is a validated clinician-administered tool designed to assess functional independence in individuals with neurological or musculoskeletal conditions. It evaluates the level of assistance required for daily activities across six domains: self-care, sphincter control, mobility, locomotion, communication, and social cognition. The FIM consists of 18 items, each rated on a 7-point ordinal scale (1 = total assistance, 7 = complete independence), with total scores ranging from 18 to 126. Higher scores indicate greater functional independence.
Time frame: T3
Kinesiophobia
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
Time frame: T1
Well-being and Mental Health
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report measure of psychological distress designed to be administered during a course of treatment to determine treatment response. It compries 34 questions about how the participants have been feeling over the last week, using a 5-point Likert scale ranging from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores (ranging from 0 to 4) and can be reported either as a raw score or standardized (e.g., multiplying the mean by 10 to obtain a score on a 0-40 scale). Score Interpretation: 0-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of a need for intervention. 3.00-4.00: Severe distress, highly indicative of immediate clinical intervention.
Time frame: T1
The first participant was enrolled on May 16, 2024, and the last participant was also enrolled on May 16, 2024.
| Milestone | Patients With Rare Skeletal Disorders |
|---|---|
| Started | 8 |
| Completed | 8 |
| Not completed | 0 |
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| EQ-5D Index Value | 0.91 (0.65 to 1) |
| EQ-5D VAS | 84 (50 to 99) |
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| EQ-5D Index Value | 0.91 (0.75 to 1) |
| EQ-5D VAS | 90.50 (45 to 100) |
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| EQ-5D Index Value | 0.90 (0.75 to 1) |
| EQ-5D VAS | 93.50 (70 to 100) |
EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. The questionnaire consists of two sections-descriptive system and visual analog scale (VAS)-and yields two scores: Index Value (IV), and overall health status (VAS). In the descriptive system section, patients report their level of problems in five dimensions-mobility, self-care, usual activities, pain/discomfort, and anxiety/depression-and rate their health on a 5-level options for adults, and 3-level for adolescents and children. Based on the pattern of their responses, patients generate a health profile ranging from best health (11111 = highest level) to worst health (55555 = lowest level). Each health profile is transformed into an IV, that varies from 0 (absence of life/death) to 1 (perfect health). The VAS measures the patients' overall health status, with a score ranging from 0 ("The worst health you can imagine") to 100 ("The best health you can imagine").
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| EQ-5D Index Value | 0.82 (0.72 to 0.95) |
| EQ-5D VAS | 83.50 (50 to 99) |
Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Self-esteem | 22 (9 to 26) |
Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Self-esteem | 21 (11 to 23) |
Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Self-esteem | 22 (10 to 25) |
Rosenberg Self-Esteem Scale is a 10-item scale that assesses the self-esteem, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Self-esteem | 21 (11 to 30) |
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Gait | 16 (15 to 16) |
| Balance | 12 (10 to 12) |
| Fall Risk | 28 (25 to 28) |
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Gait | 12 (11 to 12) |
| Balance | 16 (15 to 16) |
| Fall Risk | 28 (26 to 28) |
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Gait | 12 (12 to 12) |
| Balance | 16 (16 to 16) |
| Fall Risk | 28 (28 to 28) |
Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, primarily to assess fall risk. It uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16. The total score (Fall Risk) ranges from 0 to 28, with higher scores indicating better balance and gait performance (19 or below=High risk of falls; 20-23=Moderate risk of falls; 24-28=Low risk of falls).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Gait | 12 (10 to 12) |
| Balance | 16 (15 to 16) |
| Fall Risk | 28 (25 to 28) |
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Balance | 56 (56 to 56) |
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Balance | 56 (56 to 56) |
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Balance | 56 (56 to 56) |
Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity. The total score ranges from 0 to 56, with higher scores indicating better balance. A score of less than 45 suggests an increased risk of falling.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Balance | 56 (56 to 56) |
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Activity Avoidance Scale | 10 (6 to 17) |
| Harm Scale | 11 (8 to 18) |
| Kinesiophobia | 21.50 (15 to 35) |
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Activity Avoidance Scale | 11 (7 to 16) |
| Harm Scale | 12 (10 to 17) |
| Kinesiophobia | 22.50 (19 to 30) |
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Activity Avoidance Scale | 10.50 (7 to 17) |
| Harm Scale | 8 (5 to 11) |
| Kinesiophobia | 18.50 (12 to 28) |
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report questionnaire designed to assess psychological distress and monitor treatment response. It consists of 34 items evaluating emotional state and perceived well-being over the past week, rated on a 5-point Likert scale from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores and can be reported in two ways: 1.Raw score: The mean of all item scores (range: 0-4). 2.Standardized score: Obtained by multiplying the raw score by 10, yielding a scale from 0 to 40. The data presented in the results refer to the raw score. Score Interpretation: 0.00-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of the need for intervention. 3.00-4.00: Severe distress, highly indicative of the need for immediate clinical intervention.
| units on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Well-being and Mental Health | 0.85 (0.10 to 2.70) |
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report questionnaire designed to assess psychological distress and monitor treatment response. It consists of 34 items evaluating emotional state and perceived well-being over the past week, rated on a 5-point Likert scale from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores and can be reported in two ways: 1.Raw score: The mean of all item scores (range: 0-4). 2.Standardized score: Obtained by multiplying the raw score by 10, yielding a scale from 0 to 40. The data presented in the results refer to the raw score. Score Interpretation: 0.00-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of the need for intervention. 3.00-4.00: Severe distress, highly indicative of the need for immediate clinical intervention.
| units on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Well-being and Mental Health | 0.45 (0.10 to 1.60) |
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report questionnaire designed to assess psychological distress and monitor treatment response. It consists of 34 items evaluating emotional state and perceived well-being over the past week, rated on a 5-point Likert scale from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores and can be reported in two ways: 1.Raw score: The mean of all item scores (range: 0-4). 2.Standardized score: Obtained by multiplying the raw score by 10, yielding a scale from 0 to 40. The data presented in the results refer to the raw score. Score Interpretation: 0.00-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of the need for intervention. 3.00-4.00: Severe distress, highly indicative of the need for immediate clinical intervention.
| units on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Well-being and Mental Health | 1.25 (0.60 to 2.30) |
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Upper Extremity Scale | 95.83 (54.17 to 100) |
| Transfer & Basic Mobility Scale | 92.80 (87.88 to 100) |
| Sports and Physical Functioning Scale | 73.96 (58.33 to 100) |
| Pain/Comfort Scale | 81.11 (46.11 to 100) |
| Happiness Scale | 85 (55 to 100) |
| Global Functioning Scale | 84.68 (69.65 to 100) |
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Upper Extremity Scale | 97.92 (66.67 to 100) |
| Transfer & Basic Mobility Scale | 97.35 (87.88 to 100) |
| Sports and Physical Functioning Scale | 81.53 (59.72 to 97.22) |
| Pain/Comfort Scale | 71.39 (47.78 to 100) |
| Happiness Scale | 82.50 (40 to 95) |
| Global Functioning Scale | 86.71 (71.79 to 98.96) |
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Upper Extremity Scale | 97.92 (83.33 to 100) |
| Transfer & Basic Mobility Scale | 97.35 (87.88 to 100) |
| Sports and Physical Functioning Scale | 81.94 (48.48 to 100) |
| Pain/Comfort Scale | 83.61 (49.44 to 100) |
| Happiness Scale | 92.50 (40 to 100) |
| Global Functioning Scale | 86.40 (79.91 to 100) |
Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and uses domain-specific scales. Each scale generates a score ranging from 0 to 100, with higher scores indicating better functioning or less impairment.
| score on a scale | Patients With Rare Skeletal Disorders |
|---|---|
| Upper Extremity Scale | 97.92 (75 to 100) |
| Transfer & Basic Mobility Scale | 96.97 (91.67 to 100) |
| Sports and Physical Functioning Scale | 88.19 (51.39 to 97.50) |
| Pain/Comfort Scale | 67.22 (38.33 to 93.33) |
| Happiness Scale | 80 (55 to 100) |
| Global Functioning Scale | 85.73 (77.10 to 97.50) |
Functional Independence Measure (FIM) is a validated clinician-administered tool designed to assess functional independence in individuals with neurological or musculoskeletal conditions. It evaluates the level of assistance required for daily activities across six domains: self-care, sphincter control, mobility, locomotion, communication, and social cognition. The FIM consists of 18 items, each rated on a 7-point ordinal scale (1 = total assistance, 7 = complete independence), with total scores ranging from 18 to 126. Higher scores indicate greater functional independence.
Results for this outcome have not been posted.
Functional Independence Measure (FIM) is a validated clinician-administered tool designed to assess functional independence in individuals with neurological or musculoskeletal conditions. It evaluates the level of assistance required for daily activities across six domains: self-care, sphincter control, mobility, locomotion, communication, and social cognition. The FIM consists of 18 items, each rated on a 7-point ordinal scale (1 = total assistance, 7 = complete independence), with total scores ranging from 18 to 126. Higher scores indicate greater functional independence.
Results for this outcome have not been posted.
The Tampa Scale for Kinesiophobia (TSK) is a validated self-report questionnaire designed to assess the fear of movement or (re)injury in individuals experiencing pain or musculoskeletal disorders. The TSK consists of 13 items (Italian validated version), each rated on a 4-point Likert scale, ranging from 1 ("Strongly Disagree") to 4 ("Strongly Agree"). The scores are summed to yield a total score ranging from 13 to 52, with higher scores indicating greater levels of kinesiophobia. The TSK includes two subscales: 1.Activity Avoidance, with a score ranging from 6 to 24; 2.Harm Beliefs, with a score ranging from 7 to 28. Higher scores on both the Activity Avoidance and Harm Beliefs subscales indicate greater levels of kinesiophobia, reflecting increased fear of movement due to injury concerns (Activity Avoidance subscale) or harmful beliefs about physical activity (Harm Beliefs subscale).
Results for this outcome have not been posted.
Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report measure of psychological distress designed to be administered during a course of treatment to determine treatment response. It compries 34 questions about how the participants have been feeling over the last week, using a 5-point Likert scale ranging from 0 ("Not at all") to 4 ("Most or all of the time"). The total score is calculated as the mean of all item scores (ranging from 0 to 4) and can be reported either as a raw score or standardized (e.g., multiplying the mean by 10 to obtain a score on a 0-40 scale). Score Interpretation: 0-0.99: No clinical distress or minimal risk. 1.00-1.99: Mild distress, potentially significant. 2.00-2.99: Moderate distress, generally indicative of a need for intervention. 3.00-4.00: Severe distress, highly indicative of immediate clinical intervention.
Results for this outcome have not been posted.
Collected over 4 months. Non-serious events are listed at a 5% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Patients With Rare Skeletal Disorders | 0/8 (0%) | 0/8 (0%) | 0/8 (0%) |
| Age, Continuous(years) | Patients With Rare Skeletal Disorders |
|---|---|
| Median | 14 (12 to 18) |
| Sex: Female, Male(Participants) | Patients With Rare Skeletal Disorders |
|---|---|
| Female | 4 |
| Male | 4 |
| Race/Ethnicity, Customized(participants) | Patients With Rare Skeletal Disorders |
|---|---|
| Caucasian | 8 |
| Region of Enrollment(participants) | Patients With Rare Skeletal Disorders |
|---|---|
| Italy | 8 |
PDFs hosted by the registry, ClinicalTrials.gov.
Plan to share: No
Ran from May 2024 to primary completion in Sep 2024, 3 months.
Results were first posted in Mar 2025, 6 months after primary completion.
Of 17 interventional studies with no phase under Osteogenesis Imperfecta, half reached primary completion within 22 months of starting (the median), counting those still running; a quarter within 15 and three quarters within 35. This study's 3 months is below that.
How these figures are worked out, and which studies are left out of them.
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