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
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.
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
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: Csr
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