VIrtual STudy in Achondroplasia for the US (VISTA)

NCT06168201 | Recruiting

• 1 other identifier: 111-605
• Study Type: observational
• Target: 170
• Locations: 1 country
• Sites: 7

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. 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. 2.Primary data collection of Clinical Outcome Assessments (COAs) and questionnaire data.

Conditions

Achondroplasia

Outcome Measures

Primary Outcomes (10)

• 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. Parent(ObsRO) version for all participants enrolled ages 5-13 years

  every 6 months starting from time of study enrolment up to 5 years

Study Arms (2)

Primary Pediatric Cohort

≤13 years old at time of enrollment. This is an observational study.

Secondary Adolescent and Adult Cohort

≥14 years old at time of enrollment. This is an observational study.

Eligibility Criteria

• Age: 0 Months - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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

You may qualify if:

• 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

You may not qualify if:

• Lack of any medical records

Sponsors & Collaborators

• BioMarin Pharmaceutical: lead
• PicnicHealth: collaborator

Study Sites (7)

UCSF

Oakland, California, 94609, United States

RECRUITING

PicnicHealth

San Francisco, California, 94107, United States

RECRUITING

Piedmont Health

Statesville, North Carolina, 28625, United States

RECRUITING

University of Cincinnati

Cincinnati, Ohio, 45229, United States

RECRUITING

Sanford Health

Sioux Falls, South Dakota, 57105, United States

RECRUITING

Baylor College of Medicine

Houston, Texas, 77030-2316, United States

RECRUITING

University of Wisconsin

Madison, Wisconsin, 53726, United States

RECRUITING

MeSH Terms

Conditions

Achondroplasia

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Medical Director, MD

  BioMarin Pharmaceutical

  STUDY DIRECTOR

Central Study Contacts

Trial Specialist

CONTACT

1-800-938-4587; medinfo@bmrn.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 2, 2023
• First Posted: December 13, 2023
• Study Start: February 21, 2023
• Primary Completion (Estimated): February 1, 2028
• Study Completion (Estimated): February 1, 2028
• Last Updated: December 18, 2025

Record last verified: 2025-12

Locations

US (7)