Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
As a patient with one of these conditions:
- You have been diagnosed with one of the following conditions: a skull growth condition linked to FGFR signaling (a gene pathway), achondroplasia or hypochondroplasia (types of dwarfism), osteogenesis imperfecta (brittle bone disease), or Pierre Robin sequence (a condition affecting jaw and airway development)
- You have previously agreed to allow your biological samples (such as blood or tissue) to be stored in one of three specific medical collections related to bone and developmental conditions (confirm with trial site)
- You have had a brain or facial scan (CT or MRI) done as part of your regular medical care
As a "control" participant (someone without these conditions):
- You have visited the Genetics, Pediatrics, or Maxillofacial Surgery departments at Necker hospital and do NOT have any of the conditions listed above
- You have previously agreed to allow your biological samples to be stored in a specific collection called "Infectious Diseases" (confirm with trial site)
- You have had a brain or facial scan (CT or MRI) done as part of your regular medical care
Who may not be able to join:
- You or your parents (if you are a child) do not want your medical data from your care to be used in this research study
⚠️ Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development
Can't join this trial?
Data last synced from ClinicalTrials.gov: 27 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.