Modelling IRD with participant derived stem cells

• Research type

  Research Study

• Full title

  Modelling inherited retinal disease (IRD) with participant derived stem cells

• IRAS ID

  290842

• Contact name

  Michel Michaelides

• Contact email

  michel.michaelides@ucl.ac.uk

• Sponsor organisation

  MeiraGTx UK II Ltd

• Duration of Study in the UK

  5 years, 0 months, 2 days

• Research summary

  The purpose of this study is to use patient cells to make clinically relevant retinal disease models which can be used in the discovery and optimization of new ocular gene therapies for previously untreatable inherited retinal degenerative disease.

  Skin or blood samples will be taken from participants with inherited retinal diseases (IRD's) involving any of the following genes, as well as healthy volunteers:
  GUCY2D (RetGC), ABCA4, KCNV2, RPE65, RDH12, RPGR, RP2, CNGB3, CNGA3

  These samples would then be transported to the lab and used to generate induced pluripotent stem cells (IPSC).

  The IPSCs will be used to make retinal cells in a dish which carry the disease-causing genetic mutations. We will investigate how these cells differ to control, non IRD gene carrying retinal cells. We will then treat the patient IPSC retinal cells with our gene therapy vectors developed in our labs at MeiraGTX.

  Specifically these are adeno virus associated vectors (AAVs) carrying the correct version of the IRD genes. We aim to use the AAV vectors to express the correct version of the IRD gene that is missing in the patient IPSC derived retinal cells. A single blood or skin sample will be collected at Moorfields eye hospital and transferred to the labs at MeiraGTX for IPSC generation. The cell models will then be grown in the lab and used over several years in therapy development and testing.

• REC name

  Wales REC 3

• REC reference

  21/WA/0087

• Date of REC Opinion

  21 Apr 2021

• REC opinion

  Further Information Favourable Opinion