Achondroplasia (ACH)

Achondroplasia is a genetic disorder and the most common cause of dwarfism. It leads to short stature with disproportionately short arms and legs, a large head, and a prominent forehead. Most people with achondroplasia have normal intelligence and life expectancy.

  • Cause: Mutation in the FGFR3 gene; usually spontaneous, but can be inherited (autosomal dominant).

  • Features: Short limbs, normal torso, spinal curvature, and potential for joint or breathing issues.

  • Diagnosis: Detected at birth or via genetic testing.

  • Treatment: No cure; focuses on managing symptoms and complications.

Active Trials

  • TITLE:

    SPONSOR:

    INDICATION:

    PROTOCOL:

    PHASE:

    DESCRIPTION:

    STATUS:

    RECRUITING PATIENTS:

    RDR LOCATION:
    Inquire About Trial →

Past Trials

  • TITLE: A Multicenter, Phase 2, Dose-Escalation/Dose-Expansion Study of TYRA-300 in Children With Achondroplasia With Open Growth Plates: BEACH301

    SPONSOR: Tyra Biosciences, Inc.

    INDICATION: Achondroplasia

    PROTOCOL: TYR300-201

    PHASE: 2

    DESCRIPTION: This is a Phase 2, multicenter, open-label, dose-escalation study to determine the safety, tolerability, and identify potentially effective dose(s) of TYRA-300, a fibroblast growth factor receptor (FGFR)-3 selective tyrosine kinase inhibitor, in children 3 to 10 years of age with achondroplasia with open growth plates that will examine three cohorts of children: the Sentinel Safety Cohort, Cohort 1, and Cohort 2.

    STATUS: Not Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia, Florida, North Carolina