Recruiting

Observational Study

Sponsor:

BioMarin Pharmaceutical

Code:

NCT06168201

Conditions

Achondroplasia

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Achondroplasia

Study ID

NCT06168201

Start date

Feb 21, 2023

Status verified date

Jun, 2026

Completion date

Feb, 2028

Anticipated

Primary completion date

Feb, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 18

Healthy Volunteers: Not accepted

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

Enrollment

170 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Height [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Weight [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Body Mass Index [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Head Circumference [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Annualized growth velocity (AGV) [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Medical diagnoses by age [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Surgical procedures and/or medical interventions by age [ Time Frame: Retrospective data and prospective data for up to 5 years starting from time of study enrolment ]
  • Changes in physical functioning [ Time Frame: every 6 months starting from time of study enrolment up to 5 years ]
  • Changes in health-related quality of life (HRQoL) [ Time Frame: every 6 months starting from time of study enrolment up to 5 years ]
  • Adherence to treatment with VOXZOGO™ (vosoritide), if prescribed [ Time Frame: every 6 months starting from time of study enrolment up to 5 years ]

Central Contacts and Locations

Central contacts

Locations

UCSF

Recruiting

Oakland, California, United States, 94609

Principal Investigator:

Hind Al Saif

PicnicHealth

Recruiting

San Francisco, California, United States, 94107

Contacts

Johns Hopkins University (JHU)

Recruiting

Baltimore, Maryland, United States, 21205

Piedmont Health

Recruiting

Statesville, North Carolina, United States, 28625

University of Cincinnati

Recruiting

Cincinnati, Ohio, United States, 45229

Sanford Health

Recruiting

Sioux Falls, South Dakota, United States, 57115

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030-2316

University of Wisconsin

Recruiting

Madison, Wisconsin, United States, 53726

More Information

Sponsor

BioMarin Pharmaceutical

Last update posted

Jun 30, 2026

Last verified

Jun, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by BioMarin Pharmaceutical on 2026-06-30.