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

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)

Study Overview

• Status: Recruiting
• Conditions: Achondroplasia

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Trial Specialist; Phone Number: 1-800-938-4587; Email: medinfo@bmrn.com

Study Locations

• United States
  • California
    • San Francisco, California, United States, 94107
      • Recruiting
      • PicnicHealth
      • Contact: PicnicHealth; Email: hello@picnichealth.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The primary study population will include individuals with achondroplasia regardless of their treatment status with VOXZOGO™. Whilst individuals may change status from untreated to treated during the prospective period of the study (or vice versa), for the purposes of recruitment targets they will only be counted once, based on their treated status at the point of enrollment

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Treated Individuals; Treated individuals with Achondroplasia. This is an observational study.
Untreated Individuals; Untreated individuals with Achondroplasia. This is an observational study.

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: BioMarin Pharmaceutical
• Collaborators: PicnicHealth
• Investigators: Study Director: Medical Director, MD, BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start (Actual): February 21, 2023
• Primary Completion (Estimated): February 1, 2028
• Study Completion (Estimated): February 1, 2028

Study Registration Dates

• First Submitted: November 2, 2023
• First Submitted That Met QC Criteria: December 10, 2023
• First Posted (Estimated): December 13, 2023

Study Record Updates

• Last Update Posted (Estimated): December 13, 2023
• Last Update Submitted That Met QC Criteria: December 10, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases; Dwarfism; Bone Diseases, Developmental; Osteochondrodysplasias; Achondroplasia
• Other Study ID Numbers: 111-605