A Multicenter Multinational Observational Study of Children With Hypochondroplasia

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

Study Overview

• Status: Recruiting
• Conditions: Hypochondroplasia

• Study Type: Observational
• Enrollment (Estimated): 400

Contacts and Locations

• Study Contact: Name: Trial Specialist; Phone Number: 1-800-983-4587; Email: medinfo@bmrn.com

Study Locations

• Argentina
  • Buenos Aires, Argentina
    • Not yet recruiting
    • Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan
• Australia
  • Victoria
    • Parkville, Victoria, Australia, 3052
      • Recruiting
      • Royal Children's Hospital Melbourne
• Brazil
  • Rio Grande do Sol
    • Porto Alegre, Rio Grande do Sol, Brazil
      • Not yet recruiting
      • Hospital de Clinicas de Porto Algre
  • Sao Paulo
    • Ribeirão Preto, Sao Paulo, Brazil
      • Not yet recruiting
      • Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto
• Canada
  • Alberta
    • Edmonton, Alberta, Canada
      • Recruiting
      • Stollery Children's Hospital
  • Ontario
    • Toronto, Ontario, Canada
      • Recruiting
      • SickKids - The Hospital for Sick Children
  • Quebec
    • Montréal, Quebec, Canada
      • Not yet recruiting
      • Centre Hospitalier Universitaire Sainte-Justine
• France
  • Lyon, France
    • Recruiting
    • Hospices Civils de Lyon - Hopital Femme Mère Enfant
  • Marseille, France
    • Recruiting
    • Hopital de la Timone
  • Paris, France
    • Recruiting
    • Hôpital Necker-Enfants Malades
  • Toulouse, France
    • Recruiting
    • CHU de Toulouse - Hopital des Efants
• Germany
  • Köln, Germany
    • Recruiting
    • Uniklinik Koln
  • Magdeburg, Germany
    • Recruiting
    • Universitätskinderklinik Magdeburg
• Italy
  • Milan, Italy
    • Recruiting
    • Fondazione IRCCS CA' Granda Ospedale Maggiore Policlinico
  • Rome, Italy
    • Recruiting
    • Fondazione Policlinico Universitario Agostino Gemelli IRCCS
  • Liguria
    • Genoa, Liguria, Italy
      • Recruiting
      • Istituto Giannina Gaslini
  • Rome
    • Roma, Rome, Italy
      • Not yet recruiting
      • Ospedale Pediatrico Bambino Gesu
• Japan
  • Kumamoto, Japan
    • Recruiting
    • Kumamoto University Hospital
  • Tokushima, Japan
    • Not yet recruiting
    • Tokushima University Hospital
  • Tokyo, Japan
    • Recruiting
    • Institute of Science Tokyo Hospital
  • Osaka
    • Suita, Osaka, Japan
      • Recruiting
      • Osaka University Hospital
  • Tottori
    • Yonago, Tottori, Japan
      • Recruiting
      • Tottori University Hospital
• Spain
  • Madrid, Spain
    • Recruiting
    • Hospital Universitario La Paz
  • Vitoria, Spain
    • Recruiting
    • Vithas Hospital San Jose
• United Kingdom
  • England
    • London, England, United Kingdom
      • Not yet recruiting
      • Myriad Trials Ltd
    • London, England, United Kingdom
      • Recruiting
      • Great Ormond Street Hospital for Children NHS foundation trust
  • Scottland
    • Glasgow, Scottland, United Kingdom
      • Recruiting
      • NHS Greater Glasgow and Clyde
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85016
      • Recruiting
      • Phoenix Children's Hospital
  • California
    • Los Angeles, California, United States, 90048
      • Not yet recruiting
      • Cedars-Sinai Medical Center
    • Oakland, California, United States, 94609
      • Recruiting
      • UCSF Benioff Children's Hospital
  • Delaware
    • Wilmington, Delaware, United States, 19803
      • Recruiting
      • Nemours Alfred I. Dupont Hospital for Children
  • District of Columbia
    • Washington, District of Columbia, United States, 20010
      • Recruiting
      • Children's National Health System
  • Illinois
    • Chicago, Illinois, United States, 60611
      • Recruiting
      • Ann & Robert H. Lurie Children's Hospital of Chicago
  • Maryland
    • Baltimore, Maryland, United States, 21218
      • Not yet recruiting
      • The Johns Hopkins University School of Medicine
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital
  • Minnesota
    • Minneapolis, Minnesota, United States, 55454
      • Recruiting
      • University of Minnesota Masonic Children's Hospital
  • Missouri
    • Columbia, Missouri, United States, 65212
      • Recruiting
      • University of Missouri
    • Saint Louis, Missouri, United States, 63110
      • Recruiting
      • Washington University School of Medicine in St. Louis
  • New York
    • New York, New York, United States, 10029
      • Recruiting
      • Mount Sinai Kravis Children's Hospital
  • Ohio
    • Akron, Ohio, United States, 44307
      • Not yet recruiting
      • Akron Children's Hospital
    • Columbus, Ohio, United States, 43205
      • Not yet recruiting
      • Nationwide Children's Hospital
  • Texas
    • Fort Worth, Texas, United States, 76104
      • Recruiting
      • Cook Children's Endocrinology
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Recruiting
      • Medical College of Wisconsin, Children's Hospital

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

The study population will include approximately 400 pediatric individuals with hypochondroplasia.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Children with Hypochondroplasia

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Change in annualized growth velocity (AGV)	Every 6 months through end of study, up to 15 years
Change in Height Z-score	Every 6 months through end of study, up to 15 years
Change in Height	Every 6 months through end of study, up to 15 years
Change in BMI	Every 6 months through end of study, up to 15 years
Change in BMI Z-score	Every 6 months through end of study, up to 15 years
Change in ratios of upper to lower body segments	Every 6 months through end of study, up to 15 years
Change in ratios of upper and lower leg length ratio	Every 6 months through end of study, up to 15 years
Change in ratio of arms span to standing height ratio	Every 6 months through end of study, up to 15 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain	Every 52 weeks through end of study, up to 15 years
Change in Quality of Life in Short Statured Youth (QoLISSY) total score	Every 52 weeks through end of study, up to 15 years
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
Frequency of event rates of medical events of interest	Every 6 months through end of study, up to 15 years
Proportion of children who report use of growth hormone, treatment patterns and impact on growth	Every 6 months through end of study, up to 15 years
Proportion of children who report limb lengthening surgery	Every 6 months through end of study, up to 15 years

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): November 27, 2023
• Primary Completion (Estimated): December 31, 2043
• Study Completion (Estimated): December 31, 2043

Study Registration Dates

• First Submitted: December 14, 2023
• First Submitted That Met QC Criteria: January 18, 2024
• First Posted (Actual): January 19, 2024

Study Record Updates

• Last Update Posted (Actual): April 3, 2025
• Last Update Submitted That Met QC Criteria: April 1, 2025
• Last Verified: April 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Endocrine System Diseases; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Spinal Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Bone Diseases, Developmental; Spinal Curvatures; Dwarfism; Lordosis; Limb Deformities, Congenital
• Other Study ID Numbers: 111-902

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No