A Multicenter Multinational Observational Study of Children With Hypochondroplasia

April 1, 2025 updated by: BioMarin Pharmaceutical
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

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

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 Clinicas da Faculdade de Medicina de Ribeirao 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

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Children with Hypochondroplasia

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Change in annualized growth velocity (AGV)
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in Height Z-score
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in Height
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in BMI
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in BMI Z-score
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in ratios of upper to lower body segments
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in ratios of upper and lower leg length ratio
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Change in ratio of arms span to standing height ratio
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Change in Quality of Life in Short Statured Youth (QoLISSY) physical domain
Time Frame: Every 52 weeks through end of study, up to 15 years
Every 52 weeks through end of study, up to 15 years
Change in Quality of Life in Short Statured Youth (QoLISSY) total score
Time Frame: Every 52 weeks through end of study, up to 15 years
Every 52 weeks through end of study, up to 15 years
Change in patient global impression of severity (PGI-S)
Time Frame: Every 52 weeks through end of study, up to 15 years
Every 52 weeks through end of study, up to 15 years
Change in caregiver global impression of severity (CaGI-S)
Time Frame: Every 52 weeks through end of study, up to 15 years
Every 52 weeks through end of study, up to 15 years
Frequency of event rates of medical events of interest
Time Frame: Every 6 months through end of study, up to 15 years
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
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years
Proportion of children who report limb lengthening surgery
Time Frame: Every 6 months through end of study, up to 15 years
Every 6 months through end of study, up to 15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
BioMarin Pharmaceutical

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Medical Director, MD, BioMarin Pharmaceutical

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
November 27, 2023

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 31, 2043

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 31, 2043

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 14, 2023

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 18, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 19, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
April 3, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 1, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
April 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Hypochondroplasia

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Cookie Settings

We use cookies to ensure that we give you the best experience on our website. For more details carefully read our Privacy and Cookies Policy. ...>>>You can change your preferences or withdraw your consent at any time by deleting the cookies from your website or computer as described in the policy. Please accept it and choose your preferences by ticking the corresponding boxes in the "Manage Settings" section below. Please carefully read our Terms of Service before you proceed with using any part of this website.
«Manage Settings