HypochondroplasiaNCT06212947
A Multicenter Multinational Observational Study of Children With Hypochondroplasia
An observational study of Hypochondroplasia, run by BioMarin Pharmaceutical at 43 sites in 11 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 15 years
- Conditions the study is for
- Hypochondroplasia
- How many people
- 400 participants
- Where
- 43 sitesin 11 countries
- Study dates
- 27 Nov 2023to 31 Dec 2043
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: The study population will include approximately 400 pediatric individuals with hypochondroplasia.
Who may be able to join
- Participants must be ≤ 15 years old at the time of signing the informed consent
- Participants must have genetic confirmation of Hypochondroplasia diagnosis
Who cannot join
- 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
Trial locations and contacts
43 sites in 11 countries. Contact the study team or a site near you to ask about taking part.
43 sites in 11 countries
United States16 sites, 16 recruiting
- Not yet recruiting
Akron Children's Hospital
Akron, Ohio, 44307
- Not yet recruiting
The Johns Hopkins University School of Medicine
Baltimore, Maryland, 21218
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
- Recruiting
University of Missouri
Columbia, Missouri, 65212
- Not yet recruiting
Nationwide Children's Hospital
Columbus, Ohio, 43205
- Recruiting
Cook Children's Endocrinology
Fort Worth, Texas, 76104
- Not yet recruiting
Cedars-Sinai Medical Center
Los Angeles, California, 90048
- Recruiting
Medical College of Wisconsin, Children's Hospital
Milwaukee, Wisconsin, 53226
- Recruiting
University of Minnesota Masonic Children's Hospital
Minneapolis, Minnesota, 55454
- Recruiting
Mount Sinai Kravis Children's Hospital
New York, New York, 10029
- Recruiting
UCSF Benioff Children's Hospital
Oakland, California, 94609
- Recruiting
Phoenix Children's Hospital
Phoenix, Arizona, 85016
- Recruiting
Washington University School of Medicine in St. Louis
St Louis, Missouri, 63110
- Recruiting
Children's National Health System
Washington D.C., District of Columbia, 20010
- Recruiting
Nemours Alfred I. Dupont Hospital for Children
Wilmington, Delaware, 19803
Japan5 sites, 5 recruiting
- Recruiting
Kumamoto University Hospital
Kumamoto, Kumamoto
- Recruiting
Osaka University Hospital
Suita, Osaka
- Not yet recruiting
Tokushima University Hospital
Tokushima
- Recruiting
Institute of Science Tokyo Hospital
Tokyo
- Recruiting
Tottori University Hospital
Yonago, Tottori
France4 sites, 4 recruiting
- Recruiting
Hospices Civils de Lyon - Hôpital Femme Mère Enfant
Lyon
- Recruiting
Hopital de la Timone
Marseille
- Recruiting
Hôpital Necker-Enfants Malades
Paris
- Recruiting
CHU de Toulouse - Hopital des Efants
Toulouse
Italy4 sites, 4 recruiting
- Recruiting
Istituto Giannina Gaslini
Genoa, Liguria
- Recruiting
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan
- Not yet recruiting
Ospedale Pediatrico Bambino Gesù
Roma, Rome
- Recruiting
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Rome
Canada3 sites, 3 recruiting
- Recruiting
Stollery Children's Hospital
Edmonton, Alberta
- Not yet recruiting
Centre Hospitalier Universitaire Sainte-Justine
Montreal, Quebec
- Recruiting
SickKids - The Hospital for Sick Children
Toronto, Ontario
United Kingdom3 sites, 3 recruiting
- Recruiting
NHS Greater Glasgow and Clyde
Glasgow, Scottland
- Recruiting
Great Ormond Street Hospital for Children NHS Foundation Trust
London, England
- Not yet recruiting
Myriad Trials Ltd
London, England
Brazil2 sites, 2 recruiting
- Not yet recruiting
Hospital de Clinicas de Porto Algre
Porto Alegre, Rio Grande Do Sol
- Not yet recruiting
Hospital das Clinicas da Faculdade de Medicina de Ribeirao Preto
Ribeirão Preto, São Paulo
Germany2 sites, 2 recruiting
- Recruiting
Uniklinik Koln
Cologne
- Recruiting
Universitatskinderklinik Magdeburg
Magdeburg
Spain2 sites, 2 recruiting
- Recruiting
Hospital Universitario La Paz
Madrid
- Recruiting
Vithas Hospital San Jose
Vitoria-Gasteiz
Argentina1 site, 1 recruiting
- Not yet recruiting
Hospital de Pediatria SAMIC Prof. Dr. Juan P Garrahan
Buenos Aires
Australia1 site, 1 recruiting
- Recruiting
Royal Children's Hospital Melbourne
Parkville, Victoria, 3052
About this study
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
- Medical subject headings
- Hypochondroplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Children with Hypochondroplasia | Children with Hypochondroplasia |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in annualized growth velocity (AGV)
Measured: Every 6 months through end of study, up to 15 years
Change in Height Z-score
Measured: Every 6 months through end of study, up to 15 years
Change in Height
Measured: Every 6 months through end of study, up to 15 years
Change in BMI
Measured: Every 6 months through end of study, up to 15 years
Change in BMI Z-score
Measured: Every 6 months through end of study, up to 15 years
Change in ratios of upper to lower body segments
Measured: Every 6 months through end of study, up to 15 years
Change in ratios of upper and lower leg length ratio
Measured: Every 6 months through end of study, up to 15 years
Change in ratio of arms span to standing height ratio
Measured: 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
Measured: Every 52 weeks through end of study, up to 15 years
Change in Quality of Life in Short Statured Youth (QoLISSY) total score
Measured: Every 52 weeks through end of study, up to 15 years
Change in patient global impression of severity (PGI-S)
Measured: Every 52 weeks through end of study, up to 15 years
Change in caregiver global impression of severity (CaGI-S)
Measured: Every 52 weeks through end of study, up to 15 years
Frequency of event rates of medical events of interest
Measured: 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
Measured: Every 6 months through end of study, up to 15 years
Proportion of children who report limb lengthening surgery
Measured: Every 6 months through end of study, up to 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2024
- Study start27 Nov 2023
- Primary completion31 Dec 2043 (estimated)
- Study completion31 Dec 2043 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HypochondroplasiaStudies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06212947
- Sponsor's protocol ID
- 111-902
- Status last verified
- Apr 2025
- First submitted
- 14 Dec 2023
- Last updated
- 3 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter Multinational Observational Study of Children With Hypochondroplasia
- ClinicalTrials.gov ID
- NCT06212947
- Acronym / sponsor ID
- 111-902
- Conditions
- Hypochondroplasia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 27 Nov 2023 (actual)
- Primary completion
- 31 Dec 2043 (estimated)
- Study completion
- 31 Dec 2043 (estimated)
- First posted
- 19 Jan 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Children with Hypochondroplasia | – | –Children with Hypochondroplasia |
Who may qualify
- Ages
- Up to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- The study population will include approximately 400 pediatric individuals with hypochondroplasia.
Key inclusion criteria (2 listed)
- Participants must be ≤ 15 years old at the time of signing the informed consent
- Participants must have genetic confirmation of Hypochondroplasia diagnosis
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in annualized growth velocity (AGV)
Time frame: 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
Change in Height
Time frame: 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
Change in BMI Z-score
Time frame: 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
Change in ratios of upper and lower leg length ratio
Time frame: 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
7 secondary outcomes
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
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
Change in patient global impression of severity (PGI-S)
Time frame: 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
Frequency of event rates of medical events of interest
Time frame: 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
Proportion of children who report limb lengthening surgery
Time frame: Every 6 months through end of study, up to 15 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2025.
- Individual participant dataSharing planned: No
Related trials for Hypochondroplasia
Not yet recruitingPhase 3
A Clinical Trial to Evaluate Efficacy and Safety of Navepegritide Versus Placebo in Children and Adolescents With Hypochondroplasia
Hypochondroplasia
RecruitingObservational study
Prospective Longitudinal Multicentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia
Achondroplasia, Hypochondroplasia
Enrolling by invitationPhase 3
Long-Term Extension Study of Vosoritide to Treat Children With Hypochondroplasia
Hypochondroplasia
Enrolling by invitationPhase 2
Open-Label, Long-Term, Extension Study of Infigratinib in Children With Hypochondroplasia
Hypochondroplasia
Enrolling by invitationPhase 2/3
An Interventional Study of Infigratinib in Children With Hypochondroplasia
Hypochondroplasia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Medical Director, MD study director
BioMarin Pharmaceutical
43 sites in 11 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypochondroplasia, run by BioMarin Pharmaceutical at 43 sites in 11 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 43 sites in United States, Japan, France, Italy, Canada and 6 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Trial Specialist (1-800-983-4587, medinfo@bmrn.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in annualized growth velocity (AGV) (time frame: Every 6 months through end of study, up to 15 years). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2025.