An observational study in Achondroplasia, sponsored by BioMarin Pharmaceutical. Completed at 13 sites in 6 countries. Open to participants aged 5 Years to 70 Years. Per ClinicalTrials.gov, last updated 2021-04-05.
Sponsored by BioMarin Pharmaceutical · Observational
Among 14 studies in Achondroplasia by BioMarin Pharmaceutical — 2 open to participants now, 6 under way, 2 of them phase 3. Achondroplasia · BioMarin Pharmaceutical.
Among the 14 studies in Achondroplasia by BioMarin Pharmaceutical, this one is one of 2 that started in 2017, is one of 4 observational ones, and was the 6th registered.
47 studies on the registry are indexed under Achondroplasia; 13 are open to participants now.
Browse Achondroplasia studies →2 of the 14 studies in Achondroplasia by BioMarin Pharmaceutical are open now, in 9 countries. Recruiting first, the newest first:
BioMarin Pharmaceutical · Sites in United States, Australia, Canada and 6 more countries
BioMarin Pharmaceutical · Sites in United States
By country, each count listing its studies:
Of the 9 Achondroplasia studies recruiting now, 2 (22%) set no upper age limit and 7 (78%) stop at 75 or younger; 9 take children under 18; 0 take healthy volunteers.
This study: 5 Years to 70 Years · 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 2 · Phase 2 6 · Phase 3 3
First in 2012; this study’s year is marked. 2 started in 2017.
This study's enrollment of 196 is close to the median of 200 across 19 observational studies indexed under Achondroplasia.
Median enrollment 74 across the 10 interventional studies, 185 across the 4 observational. Of the 8 that completed or were terminated, 3 (38%) have results posted.
This tab as a report to print or save as PDF → With an account.
BioMarin Pharmaceutical is the lead sponsor of 112 studies on the registry; 13 are open to participants now.
Of its 17 completed or terminated interventional studies of FDA-regulated products, 12 (71%) have results posted.
None of the studies under way reaches primary completion within a year.
Among the 14 studies in Achondroplasia by BioMarin Pharmaceutical, from their registry updates:
Nothing recorded among them since 2026-09-25.
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Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point collection of questionnaire data to look at the impact on the following in individuals with achondroplasia versus a normative population:
Up to 300 subjects will be included in sites in Germany, Spain, Italy, Sweden, Austria and Denmark
This is a multinational, epidemiological, observational, retrospective, cross-sectional study of individuals with achondroplasia (subjects). This study will be conducted at up to approximately 20 sites in European countries.
Subjects will be invited to enroll via 3 routes:
Data will be collected over a minimum of the five years prior to the date of enrolment. Clinical and healthcare resource use data will be collected from medical records. For each subject enrolled, data from medical records will be collected and entered onto an electronic case report form (eCRF) at each site. Data collection from medical records will be supplemented by records provided by the subject and, if necessary, confirmed by the family doctor.
Data about QoL, psychosocial burden, socioeconomic burden and healthcare resource use will be collected via a booklet of validated and structured questionnaires.
Characteristics of subjects with achondroplasia (QoL scores, healthcare resource use, educational level, family status, employment status) will be compared with those of the general population, where available.
As this is an observational study, participation will not affect the subject/Investigator relationship, nor influence Investigator's treatment, therapeutic or other management of the subject.
Individuals with a diagnosis of Achondroplasia aged 5 years or older in Sweden, Germany, Spain, Italy, Austria and Denmark.
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.
Individuals with a documented diagnosis of achondroplasia based on:
Agrees to participate in the study and has read, understood, completed and signed:
Exclusion Criteria:
Currently participating, or participated within the last six months, in
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.
Includes age group 5-10 with a cap at 50 subjects. This is a retrospective, observational study.
Includes age group 11-15 with a cap of 50 subjects. This is a retrospective, observational study.
Includes age group 16-20 with a cap of 40 subjects. This is a retrospective, observational study.
Includes age group 21-30 with a cap of 40 subjects. This is a retrospective, observational study.
Includes age group 31-40 with a cap at 40 subjects. This is a retrospective, observational study.
Includes age group 41-50 with a cap at 40 subjects. This is a retrospective, observational study.
Includes age group 51-70 with a cap at 40 subjects. This is a retrospective, observational study.
Healthcare resource use
Healthcare resource use will be collected from medical records and through patient questionnaires. Data collection from medical records will be supplemented by records provided by the subject and, if necessary, confirmed by the family doctor. Healthcare resource use will be collected via a booklet of validated and structured questionnaires
Time frame: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Socio-economic burden (educational, personal, employment and financial impact)
Data about socio-economic burden will be collected via a booklet of validated and structured questionnaires specifically the Work and Productivity and Activity Impairment (WPAI-SHP)
Time frame: Outcomes will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Pediatric Functional Independence Measure (WeeFIM)
The WeeFIM measures the need for assistance and the severity of disability in children between six months and seven years of age. The instrument consists of 18 items covering three domains: self-care, mobility, and cognition. The mean total score within each domain and the overall total score will be summarized.
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Adolescent Pediatric Pain Tool (APPT)
The APPT is an instrument for self-reporting of pain by children and adolescents aged 8-17 years. Five subscale scores will be summarized on the analysis population
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Pediatric Quality of Life Inventory (PedsQL)
The PedsQL is comprised of four dimensions: Physical, Emotional, Social, and School Functioning. The overall score for each dimension is defined as the mean score for each item involved in the dimension. The overall score for each dimension and the mean total score across dimensions will be summarized for each report.
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Quality of Life Short Stature Youth (QoLiSSY) Questionnaire
The QoLISSY Questionnaire for children and adolescents consists of the core QOL dimensions: Physical, Social and Emotional, and three predictors of quality of life: Coping, Beliefs and Treatment. The QoLISSY total score is calculated by the sum of the means in the physical, social and emotional sub-scales divided by 3.
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Nottingham Health Profile(NHP) Questionnaire
The NHP is a generic quality of life survey used to measure subjective physical, emotional, and social aspects of health. The NHP total score is calculated by averaging the six domain scores.
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Brief Pain Inventory-Short Form (BPI-SF) Questionnaire
The BPI-SF is used to assess clinical pain. A mean severity score and mean interference score will be calculated and summarized for the analysis population
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
EuroQol - 5 Dimensions - 5 Levels (EQ-5D-5L) Questionnaire
EQ-5D-5L questionnaire has 5 dimensions: "Mobility", "Human Autonomy," "Current Activities", "Pain / Discomfort", "Anxiety / Depression" and all dimensions are described by 5 problem levels corresponding to patient response choices. A quality of life score is obtained according to the answers to the questionnaires.
Time frame: Data will be collected once at start of study per subject through completion of questionnaires. These will be assessed at interim analysis November 2018 and again at end of study with final Clinical Study Report March 2020
Measurement of Height
Height measurements will be collected from retrospective data where available for standing and sitting height measurements. The height data will be measured in centimetres.
Time frame: Retrospective data will be collected for 5 years prior to date of enrolment
Measurement of Weight Body Mass Index
Weight will be collected from retrospective data collected and will be entered in kilograms.
Time frame: Retrospective data will be collected for 5 years prior to date of enrolment
Body Mass Index (BMI)
Body Mass Index is calculated using height and weight. Body Mass Index (BMI) will be measured in kg/m2
Time frame: Retrospective data will be collected for 5 years prior to date of enrolment
Plan to share: Yes
Supporting information: Clinical study report
Time frame: August 2020
No publications or documents are linked to this record.
Ran from Dec 2017 to primary completion in Apr 2020, 28 months.
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This study is completed, as verified in Feb 2020. You cannot join it, but the record below documents what was studied.
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