Observational Study of Children with Hypochondroplasia

This is an observational study for children with Hypochondroplasia, a genetic condition affecting bone growth. The study aims to understand how children with Hypochondroplasia grow over time and how the condition progresses. Researchers will collect growth measurements and other health information. To join, your child must be 15 years old or younger and have a confirmed genetic diagnosis of Hypochondroplasia. Children with other genetic short stature conditions are not eligible. The study will look at changes in growth speed, height, and height compared to other children over a period of up to 15 years. The current recruitment status is unclear.

Study design
This is an observational study, meaning researchers will collect information without giving any specific treatments. It plans to enroll 400 participants.
What's involved
Participants will have growth measurements and other health information collected every 6 months for up to 15 years.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for up to 15 years, with measurements taken every 6 months.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06212947

A Multicenter Multinational Observational Study of Children With Hypochondroplasia

Recruiting
Not specifiedUp to 15Observational
BioMarin Pharmaceutical
~400 participants
Updated 2025-04-03 on ClinicalTrials.gov

At a glance

Recruiting sites
32 of 43 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change in annualized growth velocity (AGV)
Measured over Every 6 months through end of study, up to 15 years
+7 more outcomes measured
Hypochondroplasia

NCT06212947

Where you'd take part

This study runs at 43 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Akron Children's Hospital

    Akron, Ohiono site contact published

    Not yet recruiting

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    Chicago, Illinoisno site contact published

    Recruiting

  • Boston Children's Hospital

    Boston, Massachusettsno site contact published

    Recruiting

  • Cedars-Sinai Medical Center

    Los Angeles, Californiano site contact published

    Not yet recruiting

  • Centre Hospitalier Universitaire Sainte-Justine

    Montreal, Quebec, Canadano site contact published

    Not yet recruiting

  • Children's National Health System

    Washington D.C., District of Columbiano site contact published

    Recruiting

  • CHU de Toulouse - Hopital des Efants

    Toulouse, Franceno site contact published

    Recruiting

  • Cook Children's Endocrinology

    Fort Worth, Texasno site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

  • Medical Director, MD · STUDY_DIRECTOR · BioMarin Pharmaceutical

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Eligibility criteria

Inclusion

Participants must be ≤ 15 years old at the time of signing the informed consent
Participants must have genetic confirmation of Hypochondroplasia diagnosis

Exclusion

Have a diagnosis of another genetic short stature condition other than Hypochondroplasia or a genetic variant known to cause another genetic syndrome associated with short stature
Received an investigational product or medical device within 6 months before the Screening visit
  • Change in annualized growth velocity (AGV)Every 6 months through end of study, up to 15 years
  • Change in Height Z-scoreEvery 6 months through end of study, up to 15 years
  • Change in HeightEvery 6 months through end of study, up to 15 years
  • Change in BMIEvery 6 months through end of study, up to 15 years
  • Change in BMI Z-scoreEvery 6 months through end of study, up to 15 years
  • Change in ratios of upper to lower body segmentsEvery 6 months through end of study, up to 15 years
  • Change in ratios of upper and lower leg length ratioEvery 6 months through end of study, up to 15 years
  • Change in ratio of arms span to standing height ratioEvery 6 months through end of study, up to 15 years