Long-term assessment of children with hypochondroplasia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study involves children aged 2.5 to under 17 years diagnosed with hypochondroplasia (HCH). It aims to evaluate various aspects such as growth patterns, medical complications related to HCH, health-related quality of life, functional abilities, and cognitive functions. The study is non-interventional, meaning no medications will be administered, and it will collect data to better understand the natural history of HCH in children. The findings will help characterize the condition and its impact on affected individuals.

Why it matters

Who can join: the full rules

Inclusion Criteria:

Signed informed consent.

Aged 2.5 to \<17 years at study entry.

Diagnosis of HCH documented clinically by the presence of disproportionate short stature and confirmed with a molecular test.

Participants are ambulatory and able to stand without assistance.

Study participants and parent(s), guardian(s), or caregiver(s) are willing and able to comply with study visits and study procedures.

Exclusion Criteria:

Have ACH or short stature condition other than HCH.

In females, having had their menarche. Annualized height growth velocity ≤1.5 cm/year over a period ≥6 months prior to screening.

Having a clinically significant disease or condition that in view of the investigator or Sponsor will interfere with the evaluation of growth, with study participation or not be in the best interest of the participant.

Clinically significant abnormality in any laboratory test result at screening

Current evidence of corneal or retinal disorders.

Have used any other investigational or approved product or medical device for the treatment of HCH or short stature for ≥ 30 days or with the last dose \<6 months before screening.

Have had regular long-term treatment (\>1 month) with oral corticosteroids (low-dose ongoing inhaled steroid for asthma is acceptable).

Previous limb-lengthening surgery or guided growth surgery with plates still in place or removed within the 6 months prior to screening.

Having had a fracture of the long bones or spine within 12 months of screening.

History and/or current evidence of extensive ectopic tissue calcification.

History of malignancy.

Concurrent circumstance, disease, or condition that, in the view of the investigator and/or sponsor, would interfere with study participation, and/or would place the participant at high risk for poor compliance with study activities or for not completing the study.

Current participation in any other ongoing clinical study with another sponsor.

Where it's running

• UCSF Benioff Children's Hospital
  Oakland, California, United States Recruiting
• Childrens Hospital Colorado
  Aurora, Colorado, United States Recruiting
• Children's National Hospital
  Washington D.C., District of Columbia, United States Recruiting
• Johns Hopkins School of Medicine
  Baltimore, Maryland, United States Recruiting
• University of Missouri
  Columbia, Missouri, United States Recruiting
• Cincinnati Children's Hospital Medical Center
  Cincinnati, Ohio, United States Recruiting

Study contacts

• Study coordinator: QED Therapeutics, Inc
• Email: medinfo@qedtx.com
• Phone: 1-877-280-5655

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Measuring limb movement in people with FGFR3-related skeletal dysplasia

  This project will try using Syde® wearable movement recordings to see which measurements reliably track limb movement in people aged 3 and older with achondroplasia or hypochondroplasia.

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• Daily vosoritide versus placebo for infants and toddlers with hypochondroplasia

  This trial will test whether daily vosoritide injections for 52 weeks help infants and toddlers under 36 months with genetically confirmed hypochondroplasia grow better and stay healthier.

  Recruiting at 17 sites Phase 2 BioMarin Pharmaceutical · Phoenix, Arizona and 25 other locations · NCT07126262

• Observational study of children with Hypochondroplasia

  This study is tracking the growth and development of children with Hypochondroplasia to see how the condition affects them as they grow up.

  Recruiting at 32 sites BioMarin Pharmaceutical · Phoenix, Arizona and 42 other locations · NCT06212947

• Registry for patients with achondroplasia and hypochondroplasia

  This study is collecting health information from people with achondroplasia and hypochondroplasia to help understand these conditions better and improve future treatments.

  Recruiting Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico · Milan · NCT05328050

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.