An observational study in Achondroplasia, sponsored by BioMarin Pharmaceutical. Completed at 4 sites in 3 countries. Open to participants aged 3 Years to 100 Years. Per ClinicalTrials.gov, last updated 2021-04-05.
Sponsored by BioMarin Pharmaceutical · Observational
Observational study looking at the burden of illness in achondroplasia subjects aged 3 and above. The study will include a 3 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 175 subjects will be enrolled in sites in Argentina, Colombia and Brazil.
This is a multinational, epidemiological, observational, retrospective, cross-sectional study of individuals with achondroplasia (subjects). This study will be conducted at up to approximately 4 sites in Latin American Countries - Brazil, Argentina and Colombia.
Subjects will be identified for participation in the study via three routes:
Data will be collected over a minimum of the three 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, mobility, psychosocial burden, socio-economic 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.
Subject participation onto the study will be voluntary, without financial support to the subject.
47 studies on the registry are indexed under Achondroplasia; 14 are open to participants now.
This study's enrollment of 173 is below the median of 200 across 19 observational studies indexed under Achondroplasia.
Browse Achondroplasia studies →BioMarin Pharmaceutical is the lead sponsor of 110 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.
Counted across the registry records on this site, refreshed daily.
Individuals with a diagnosis of Achondroplasia aged 3 years or older in Argentina, Brazil and Colombia
Individual 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 in the last six months, in
Includes age group 3-5 with a cap at 20 subjects. This is a retrospective, observational study
Includes age group 6-10 with a cap at 30 subjects. This is a retrospective, observational study
Includes age group 11-15 with a cap of 30 subjects. This is a retrospective, observational study
Includes age group 16-20 with a cap of 20 subjects. This is a retrospective, observational study
Includes age group 21-30 with a cap at 20 subjects. This is a retrospective, observational study
Includes age group 31-40 with a cap at 20 subjects. This is a retrospective, observational study
Includes age group 41 and over with a cap at 35 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 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 end of study with the final Clinical Study Report, May 2020
Socio-economic burden
Data about socio-economic burden will be collected via validated and structured questionnaires specifically the Work and Productivity and Activity Impairment (WPAI-SHP)
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 end of study with the final Clinical Study Report, May 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. The study will be assessing subjects aged from 3 to 17 years
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 end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 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: Once at start of study per subject through completion of questionnaires and via retrospective review of historical data. These will be assessed at end of study with the final Clinical Study Report, May 2020
Child Behaviour Checklist (CBCL)
The CBCL questionnaire is completed by the parent to assess the child behavioral and emotional problems. The questions are grouped into eight categories which focus on different aspects of behavior: aggressive behavior, anxious/depressed, attention problems, rule-breaking behavior, somatic complaints, social problems, thought problems and withdrawn/depressed.
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 end of study with the final Clinical Study Report, May 2020
Understanding the Impact of Achondroplasia on Quality of Life Questionnaire
Impact on anxiety, depression, sleep disturbance and impact on relationships with others (spouse/partner family members, friends), social life and activities, perception of health, self-esteem, plans/ambitions for the future.
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 end of study with the final Clinical Study Report, May 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 3 years prior to date of enrolment
Measurement of Weight
Weight will be collected from retrospective data collected and will be entered in kilograms.
Time frame: Retrospective data will be collected for 3 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 3 years prior to date of enrolment
Head Circumference
Head Circumference will be collected from retrospective data collected and will be entered in centimetres.
Time frame: Retrospective data will be collected for 3 years prior to date of enrolment
Upper and Lower Arm Length
Upper and Lower Arm Length will be collected from retrospective data collected and will be entered in centimetres.
Time frame: Retrospective data will be collected for 3 years prior to date of enrolment
Iliac Height (hip to floor)
Iliac Height (hip to floor) will be collected from retrospective data collected and will be entered in centimetres.
Time frame: Retrospective data will be collected for 3 years prior to date of enrolment
Subischial Length
Subischial Length will be collected from retrospective data collected and will be entered in centimetres.
Time frame: Retrospective data will be collected for 3 years prior to date of enrolment
Thigh Length
Thigh Length will be collected from retrospective data collected and will be entered in centimetres.
Time frame: Retrospective data will be collected for 3 years prior to date of enrolment
Knee Height
Knee Height will be collected from retrospective data collected and will be entered in centimetres.
Time frame: Retrospective data will be collected for 3 years prior to date of enrolment
This study is completed, as verified in Mar 2021. You cannot join it, but the record below documents what was studied.
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