A Participant-mediated Observational Virtual Registry of Children With Achondroplasia in the United States

Study Overview
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Brief Summary
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This is an observational study of a pediatric cohort with achondroplasia in the United States. This cohort consists of both individuals treated and untreated with VOXZOGO™. Study enrollment started in February 2023. The projected total duration of the study is approximately 5 years, 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: Participant-mediated access to electronic health records which will enable retrospective and prospective collection of secondary data reflecting real-life treatment use and clinical care Primary data collection of Clinical Outcome Assessments (COAs) and questionnaire data The primary study population will include 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)

Official Title
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A Participant-mediated Observational Virtual Registry of Children With Achondroplasia in the United States

Conditions
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Achondroplasia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Physician diagnosis of achondroplasia Age at time of enrollment: 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

Ages Eligible for Study
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Minimum Age: 0 Months
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Treated Individuals<br>Treated individuals with Achondroplasia. This is an observational study. | |
| Untreated Individuals<br>Untreated individuals with Achondroplasia. This is an observational study. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Height | sitting and standing measured in centimetres | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | 
| Weight | measured in kilograms | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | 
| Body Mass Index | measured in kg/m2 | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | 
| Head Circumference | measured in centimeters | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | 
| Annualized growth velocity (AGV) | measured in centimeters/year | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | 
| Medical diagnoses by age | Clinical examination and/or radiological assessment | Retrospective data and prospective data for up to 5 years starting from time of study enrolment | 
| 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 | assessed using the Mobility and Upper Extremity Patient-Reported Outcomes Measurement Information System (PROMIS) tools | every 6 months starting from time of study enrolment up to 5 years | 
| Changes in health-related quality of life (HRQoL) | assessed using the Pediatric Quality of Life Inventory (PedsQL) | every 6 months starting from time of study enrolment up to 5 years | 
| Adherence to treatment with VOXZOGO™ (vosoritide), if prescribed | assessed using a medication adherence questionnaire to capture the number of missed doses in the prior month. | every 6 months starting from time of study enrolment up to 5 years |