A trial to evaluate UX701 for Wilson Disease

  • Research type

    Research Study

  • Full title

    A Randomized, Double-blind, Placebo-controlled, Multicenter, Seamless, Adaptive, Safety, Dose-finding, and Phase 3 Clinical Study of UX701 AAV-mediated Gene Transfer for the Treatment of Wilson Disease

  • IRAS ID

    1005234

  • Contact name

    Jason Cataldo

  • Contact email

    JCataldo@ultragenyx.com

  • Sponsor organisation

    Ultragenyx Pharmaceutical Inc.

  • Eudract number

    2020-005266-34

  • Clinicaltrials.gov Identifier

    NCT04884815

  • Research summary

    Wilson Disease is a rare genetic disorder, characterised by the accumulation of excess copper stored in the liver, brain, and other vital organs. Copper is vital for growth and development and plays specific roles in development of healthy nerves, bones, collagen, and the skin pigment melanin. Copper is absorbed from food and excess is excreted through bile and the gastrointestinal tract. However, in patients with Wilson disease, copper is not eliminated properly and accumulates within the liver and other vital organs. If not treated, it may cause liver disease, central nervous system dysfunction, and possible death.
    Study UX701-CL301 is sponsored by Ultragenyx Pharmaceutical, Inc. UX701 is an investigational AAV type 9 gene therapy, identified as an Orphan drug for the treatment of Wilson Disease. UX701 has been shown in preclinical studies to improve copper distribution and excretion from the body, therefore treating Wilson Disease.
    The study will comprise of 3 stages: Stage 1 involves evaluating the safety and efficacy of 3 dose levels of UX701 to determine initial safety of UX701 and select a safe and efficacious dose for further evaluation in Stage 2; Stage 2 involves evaluating the safety and efficacy of UX701 using the dose selected in Stage 1 to support marketing applications; Stage 3 involves evaluating the long-term safety, efficacy, and clinical benefit of UX701. Up to 90 participants are expected to participate in the study worldwide.
    Stages 1 and Stages 2 will each include: Screening, Baseline, Dosing and Follow-Up Period. Stage 3 includes Long-term Follow-Up Period. The total follow-up period is at least 104 weeks: 52 weeks in either Stage 1 or 2 and at least 4 years in Stage 3.
    Study procedures include: medical history, vital signs, physical examinations, blood and urine tests, questionnaires, ECG, echocardiograms, Brain MRI, fibroscans, ophthalmology examinations, and liver biopsies.

  • REC name

    North East - York Research Ethics Committee

  • REC reference

    22/NE/0101

  • Date of REC Opinion

    20 Sep 2022

  • REC opinion

    Further Information Favourable Opinion