Safety and Efficacy of PTH-IA
Jansen s Metaphyseal Chondrodysplasia (JMC) is a very rare disorder with only approximately 30 people known to have the disease worldwide. It is caused by parathyroid hormone 1 receptor (PTH1R) variants leading to constitutive activation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related pept
| Condition(s) | Jansen's Metaphyseal Chondrodysplasia |
|---|---|
| Status | Recruiting |
| Phase | Phase 1, Phase 2 |
| Study type | Interventional |
| Summary | Jansen s Metaphyseal Chondrodysplasia (JMC) is a very rare disorder with only approximately 30 people known to have the disease worldwide. It is caused by parathyroid hormone 1 receptor (PTH1R) variants leading to constitutive activation of the receptor for parathyroid hormone (PTH) and parathyroid hormone-related peptide (PTHrP). PTH1R is predominantly expressed in the kidneys and bone and growth-plate chondrocytes. Individuals with JMC develop severe growth impairment resulting in significant short stature, scoliosis, frequent fractures, bone pain, mineral-ion abnormalities (typically hypercalcemia and hypercalciuria), hypertension, and chronic kidney disease due to nephrocalcinosis and nephrolithiasis. Children often undergo multiple surgeries for skeletal fractures and deformities; mob |
| Who can participate | * INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: 1. Willingness of participant and/or guardian to sign a written informed consent form, which must be obtained prior to initiation of study procedures. 2. Period 1: Adults \>=18 years of age Period 2: Adults and children 3-17 years of age 3. Minimum body weight of 35 kg for participation in Period 1 and 18 kg for participation in Period 2. 4. Have an activating germline mutation of PTHIR (H223R, I458K, I458R, T410P, or T410R) 5. Female participants of reproductive potential must agree to use one form of highly effective contraception. Highly effective contraception includes: Total abstinence (when this is in line with the preferred and usual lifestyle of the par |
| Ages | 3 Years to 100 Years |
| Sex | All |
| Lead sponsor | National Institute of Dental and Craniofacial Research (NIDCR) |
| Locations | Bethesda, Maryland, United States |
| Start date | 2026-05-27 |
| NCT ID | NCT07541209 |
| Official listing | https://clinicaltrials.gov/study/NCT07541209 |