Prader–Willi Syndrome (PWS)

Prader-Willi syndrome (PWS) is a genetic disorder that affects multiple systems in the body, characterized by a combination of developmental, physical, and behavioral issues. With early diagnosis and management, individuals with Prader-Willi syndrome can lead productive lives, although ongoing support for behavioral, physical, and nutritional needs is required.

  • Cause: Caused by the deletion or lack of expression of genes on the paternal chromosome 15. In most cases, it results from a deletion of part of the chromosome (75%), but it can also be caused by uniparental disomy (when both copies of chromosome 15 come from the mother).

  • Features: Low muscle tone in infancy, followed by insatiable hunger, obesity, short stature, intellectual disability, behavioral issues, and hormone-related problems like delayed puberty.

  • Diagnosis: Confirmed through genetic testing (e.g., FISH, methylation analysis, or chromosome 15 microarray).

  • Treatment: No cure. Management includes a strict diet to control obesity, growth hormone therapy to improve height and muscle mass, speech and physical therapy, and treatment for associated conditions like hormonal imbalances.

Active Trials

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Past Trials

  • TITLE: A Phase 3, Randomized, Double-Blind, Dose-Ranging Evaluation of Transcutaneous Vagus Nerve Stimulation (tVNS) to Reduce Temper Outbursts in People with Prader-Willi Syndrome (PWS)

    SPONSOR: Foundation for Prader-Willi Research

    INDICATION: Prader-Willi Syndrome

    PROTOCOL: FPWR-VNS-R-3-01

    PHASE: 3

    DESCRIPTION: The main objectives of this trial are to determine the acceptability, safety, and effectiveness of tVNS to treat the severe behavior problems, specifically, temper outbursts, that affect people with PWS.

    STATUS: Closed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.

    SPONSOR: Harmony Biosciences, LLC

    INDICATION: Prader-Willi Syndrome

    PROTOCOL: HBS-101-CL-312

    PHASE: 3

    DESCRIPTION: The primary objective of this study is to evaluate the efficacy of pitolisant in treating excessive daytime sleepiness (EDS) in patients ≥6 years of age with Prader-Willi syndrome.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Prader-Willi Syndrome

    SPONSOR: Neuren Pharmaceuticals Ltd.

    INDICATION: Prader-Willi Syndrome

    PROTOCOL: NEU-2591-PWS-001

    PHASE: 2

    DESCRIPTION: To investigate the safety, tolerability, and pharmacokinetics of treatment with NNZ-2591 Oral Solution, 50 mg/mL investigational medicinal product (IMP) in children and adolescents with PWS

    STATUS: Closed

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia