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NCT07541209Possibly a fitRecruiting

Safety and Efficacy of PTH-IA for Rare Genetic Bone Disorder

Jansen's Metaphyseal Chondrodysplasia

Part of Bones, joints & muscles, Genetic & congenital clinical trials.

This trial tests a new medication called PTH-IA for people with a specific genetic mutation affecting the parathyroid hormone receptor. The study aims to see if the medication is safe and can help improve bone health in children and adults with this rare condition.

Summary written for real people, not researchers, by Clin2.

Phase
Phase 1/Phase 2
Enrollment
12 people
Ages
3 years to 100 years
Study type
Interventional

Who can take part

  • You must have a specific genetic mutation in the PTHIR gene (one of: H223R, I458K, I458R, T410P, or T410R)
  • You must weigh at least 35 kg (77 lbs) if in the adult group, or 18 kg (40 lbs) if in the child group
  • You must have adequate kidney function and liver function based on blood tests
  • You must have normal vitamin D levels and adequate hemoglobin (red blood cell count)
  • If you can become pregnant, you must use effective birth control during the study
  • You must be able to travel to the NIH Clinical Center and commit to all study visits

View the official record on ClinicalTrials.gov

Quick eligibility check

Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.

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