VIrtual STudy in Achondroplasia for the US (VISTA)

Recruiting

• Conditions: Achondroplasia

• Registration Number: NCT06168201
• Lead Sponsor: BioMarin Pharmaceutical

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-02-21
• Study First Submitted: 2023-11-02
• Study First Submitted QC: 2023-12-10
• Study First Posted: 2023-12-13
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-11
• Last Update Posted: 2025-03-13
• Primary Completion: 2028-02
• Study Completion: 2028-02

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 170

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Height	Retrospective data and prospective data for up to 5 years starting from time of study enrolment	sitting and standing measured in centimetres
Annualized growth velocity (AGV)	Retrospective data and prospective data for up to 5 years starting from time of study enrolment	measured in centimeters/year
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
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)
Head Circumference	Retrospective data and prospective data for up to 5 years starting from time of study enrolment	measured in centimeters
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
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
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

Trial Locations

Locations (2)

UCSF; 🇺🇸 Oakland, California, United States

PicnicHealth; 🇺🇸 San Francisco, California, United States