PROVIDE

• Research type

  Research Study

• Full title

  An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants with Type 2 Gaucher Disease

• IRAS ID

  1003253

• Contact name

  Jeffrey Sevigny

• Sponsor organisation

  Prevail Therapeutics, Inc.

• Eudract number

  2019-002395-14

• Clinicaltrials.gov Identifier

  NCT04411654

• Research summary

  Type 2 Gaucher Disease (GD2) is a rare genetic condition that can affect many parts of the body, causing both neurologic and peripheral symptoms. The neurologic symptoms include, squint, swallowing difficulty, backward arching of the neck, jerking movements, and eye movement delays. Peripheral symptoms include an enlarged liver and spleen, anaemia, and problems with blood clots.
  Patients with Gaucher disease have alterations in two GB1 genes. Individuals with this GBA1 mutation have lower amounts of a specific protein called glucocerbrosidase or GCase. When levels of the GCase are low, the body cannot breakdown fatty chemicals (glycolipids), and they build up in the body's cells. These processes are believed to contribute to the onset and severity of symptoms for infants with GD2.
  The purpose of this clinical research study is to find out the effects of the investigational gene therapy PR001A on GD2. In general, gene therapy is a form of treatment that involves inserting one or more genes into a patient's cells to compensate either for abnormal genes or to make a beneficial protein. PR001A is designed to deliver a normal GBA1 gene copy into the body to increase the activity of GCase, which is low in GD2 patients. The new GBA1 gene will remain in participant's body cells for may years and possibly for the rest of their life.
  PR001A has been tested in animal experiments where no adverse events related to PR001A were observed at PR001A doses higher than will be used in this study. PR001A has been administered to a single human subject with GD2 to date as part of Compassionate Use treatment and no adverse events related to PR001A have been reported.
  The population for this study will include up to 15 infants aged 0 to 24 months (inclusive) at the time of informed consent who have GBA1 mutations consistent with diagnosis of GD2.
  For each participant, the study will be approximately 5 years in duration, including up to 45-day screening period.

• REC name

  South Central - Oxford A Research Ethics Committee

• REC reference

  21/SC/0035

• Date of REC Opinion

  12 Apr 2021

• REC opinion

  Further Information Favourable Opinion