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A Multicenter Multinational Observational Study of Children With Hypochondroplasia

Recruiting
Conditions
Hypochondroplasia
Registration Number
NCT06212947
Lead Sponsor
BioMarin Pharmaceutical
Brief Summary

This study will assess growth over time and the clinical course of HCH in children by collecting growth measurements and other variables of interest.

Detailed Description

Not available

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
400
Inclusion Criteria
  • Participants must be ≤ 15 years old at the time of signing the informed consent
  • Participants must have genetic confirmation of Hypochondroplasia diagnosis
Exclusion Criteria
  • 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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Change in BMIEvery 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 HeightEvery 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 and lower leg length ratioEvery 6 months through end of study, up to 15 years
Change in annualized growth velocity (AGV)Every 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
Change in Height Z-scoreEvery 6 months through end of study, up to 15 years
Secondary Outcome Measures
NameTimeMethod
Change in patient global impression of severity (PGI-S)Every 52 weeks through end of study, up to 15 years
Change in caregiver global impression of severity (CaGI-S)Every 52 weeks through end of study, up to 15 years
Change in Quality of Life in Short Statured Youth (QoLISSY) physical domainEvery 52 weeks through end of study, up to 15 years
Proportion of children who report use of growth hormone, treatment patterns and impact on growthEvery 6 months through end of study, up to 15 years
Frequency of event rates of medical events of interestEvery 6 months through end of study, up to 15 years
Proportion of children who report limb lengthening surgeryEvery 6 months through end of study, up to 15 years
Change in Quality of Life in Short Statured Youth (QoLISSY) total scoreEvery 52 weeks through end of study, up to 15 years

Trial Locations

Locations (43)

Institute of Science Tokyo Hospital

🇯🇵

Tokyo, Japan

Phoenix Children's Hospital

🇺🇸

Phoenix, Arizona, United States

Cedars-Sinai Medical Center

🇺🇸

Los Angeles, California, United States

UCSF Benioff Children's Hospital

🇺🇸

Oakland, California, United States

Nemours Alfred I. Dupont Hospital for Children

🇺🇸

Wilmington, Delaware, United States

Children's National Health System

🇺🇸

Washington, District of Columbia, United States

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

🇺🇸

Chicago, Illinois, United States

The Johns Hopkins University School of Medicine

🇺🇸

Baltimore, Maryland, United States

Boston Children's Hospital

🇺🇸

Boston, Massachusetts, United States

University of Minnesota Masonic Children's Hospital

🇺🇸

Minneapolis, Minnesota, United States

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Institute of Science Tokyo Hospital
🇯🇵Tokyo, Japan

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