A Multicenter Multinational Observational Study of Children With Hypochondroplasia

NCT06212947 | Recruiting

• 1 other identifier: 111-902
• Study Type: observational
• Target: 400
• Locations: 11 countries
• Sites: 43

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.

Conditions

Hypochondroplasia

Outcome Measures

Primary Outcomes (8)

• 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 Outcomes (7)

• 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

Study Arms (1)

Children with Hypochondroplasia

Children with Hypochondroplasia

Eligibility Criteria

• Age: Up to 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• BioMarin Pharmaceutical: lead

Study Sites (43)

Phoenix Children's Hospital

Phoenix, Arizona, 85016, United States

RECRUITING

Cedars-Sinai Medical Center

Los Angeles, California, 90048, United States

NOT YET RECRUITING

UCSF Benioff Children's Hospital

Oakland, California, 94609, United States

RECRUITING

Nemours Alfred I. Dupont Hospital for Children

Wilmington, Delaware, 19803, United States

RECRUITING

Children's National Health System

Washington D.C., District of Columbia, 20010, United States

RECRUITING

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

Chicago, Illinois, 60611, United States

RECRUITING

The Johns Hopkins University School of Medicine

Baltimore, Maryland, 21218, United States

NOT YET RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

University of Minnesota Masonic Children's Hospital

Minneapolis, Minnesota, 55454, United States

RECRUITING

University of Missouri

Columbia, Missouri, 65212, United States

RECRUITING

Washington University School of Medicine in St. Louis

St Louis, Missouri, 63110, United States

RECRUITING

Mount Sinai Kravis Children's Hospital

New York, New York, 10029, United States

RECRUITING

Akron Children's Hospital

Akron, Ohio, 44307, United States

NOT YET RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

NOT YET RECRUITING

Cook Children's Endocrinology

Fort Worth, Texas, 76104, United States

RECRUITING

Medical College of Wisconsin, Children's Hospital

Milwaukee, Wisconsin, 53226, United States

RECRUITING

Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan

Buenos Aires, Argentina

NOT YET RECRUITING

Royal Children's Hospital Melbourne

Parkville, Victoria, 3052, Australia

RECRUITING

Hospital de Clinicas de Porto Algre

Porto Alegre, Rio Grande Do Sol, Brazil

NOT YET RECRUITING

Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto

Ribeirão Preto, São Paulo, Brazil

NOT YET RECRUITING

Stollery Children's Hospital

Edmonton, Alberta, Canada

RECRUITING

SickKids - The Hospital for Sick Children

Toronto, Ontario, Canada

RECRUITING

Centre Hospitalier Universitaire Sainte-Justine

Montreal, Quebec, Canada

NOT YET RECRUITING

Hospices Civils de Lyon - Hôpital Femme Mère Enfant

Lyon, France

RECRUITING

Hopital de la Timone

Marseille, France

RECRUITING

Hôpital Necker-Enfants Malades

Paris, France

RECRUITING

CHU de Toulouse - Hopital des Efants

Toulouse, France

RECRUITING

Uniklinik Koln

Cologne, Germany

RECRUITING

Universitatskinderklinik Magdeburg

Magdeburg, Germany

RECRUITING

Istituto Giannina Gaslini

Genoa, Liguria, Italy

RECRUITING

Ospedale Pediatrico Bambino Gesù

Roma, Rome, Italy

NOT YET RECRUITING

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Milan, Italy

RECRUITING

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Rome, Italy

RECRUITING

Kumamoto University Hospital

Kumamoto, Kumamoto, Japan

RECRUITING

Osaka University Hospital

Suita, Osaka, Japan

RECRUITING

Tottori University Hospital

Yonago, Tottori, Japan

RECRUITING

Tokushima University Hospital

Tokushima, Japan

NOT YET RECRUITING

Institute of Science Tokyo Hospital

Tokyo, Japan

RECRUITING

Hospital Universitario La Paz

Madrid, Spain

RECRUITING

Vithas Hospital San Jose

Vitoria-Gasteiz, Spain

RECRUITING

Great Ormond Street Hospital for Children NHS Foundation Trust

London, England, United Kingdom

RECRUITING

Myriad Trials Ltd

London, England, United Kingdom

NOT YET RECRUITING

NHS Greater Glasgow and Clyde

Glasgow, Scottland, United Kingdom

RECRUITING

MeSH Terms

Conditions

Hypochondroplasia

Study Officials

• Medical Director, MD

  BioMarin Pharmaceutical

  STUDY DIRECTOR

Central Study Contacts

Trial Specialist

CONTACT

1-800-983-4587; medinfo@bmrn.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 14, 2023
• First Posted: January 19, 2024
• Study Start: November 27, 2023
• Primary Completion (Estimated): December 31, 2043
• Study Completion (Estimated): December 31, 2043
• Last Updated: April 3, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (4); ES (2); GB (3); US (16); AR (1); JP (5); AU (1); BR (2); DE (2); CA (3); IT (4)