Achondroplasia
Conditions
Brief summary
This is an observational study of individuals with achondroplasia in the United States. The primary study population consists of pediatric individuals treated and untreated with VOXZOGO™. Study enrollment started in February 2023. The projected total duration of the study is approximately 5 years at minimum from start of study recruitment in February 2023, with the duration of individual prospective follow-up differing depending on the time of enrollment. The study duration may be extended based on decisions by the study sponsor. Data will be collected in two formats for the primary pediatric study population: 1. Participant-mediated access to electronic health records(including medical imaging, when available) which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care. . 2. Primary data collection of Clinical Outcome Assessments (COAs) and questionnaire data. Data will be collected in the following format for the adult cohort: \- Participant-mediated access to electronic health records (including medical imaging, when available) which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care. The primary study population will include approximately 150 pediatric individuals with achondroplasia regardless of their treatment status with VOXZOGO™. Individuals may change status from untreated to treated during the prospective period of the study (or vice versa) however they will only be counted once, based on their treated status at the point of enrollment. The secondary study population will include 20 adolescent and adult participants.
Interventions
None listed
Sponsors
BioMarin Pharmaceutical
PicnicHealth
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Months to 18 Years
Healthy volunteers
No
Inclusion criteria
* Physician diagnosis of achondroplasia * Age at time of enrollment: Primary Pediatric Cohort: ≤13 years old Secondary Adolescent and Adult Cohort: ≥14 years old * Receiving medical care in the United States * Complete PicnicHealth's onboarding process, including signing informed consent and authorization for medical record retrieval
Exclusion criteria
* Lack of any medical records
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Height | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | sitting and standing measured in centimetres |
| Weight | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | measured in kilograms |
| Body Mass Index | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | measured in kg/m2 |
| Head Circumference | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | measured in centimeters |
| Annualized growth velocity (AGV) | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | measured in centimeters/year |
| Medical diagnoses by age | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | Clinical examination and/or radiological assessment |
| Surgical procedures and/or medical interventions by age | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | — |
| Changes in physical functioning | every 6 months starting from time of study enrolment up to 5 years | assessed using the Mobility and Upper Extremity Patient-Reported Outcomes Measurement Information System (PROMIS) tools |
| Changes in health-related quality of life (HRQoL) | every 6 months starting from time of study enrolment up to 5 years | assessed using the Pediatric Quality of Life Inventory (PedsQL) |
| Adherence to treatment with VOXZOGO™ (vosoritide), if prescribed | every 6 months starting from time of study enrolment up to 5 years | assessed using a medication adherence questionnaire to capture the number of missed doses in the prior month. Parent(ObsRO) version for all participants enrolled ages 5-13 years |
Countries
United States
Contacts
CONTACTTrial Specialist
STUDY_DIRECTORMedical Director, MD
BioMarin Pharmaceutical
Outcome results
None listed