EMERGING THERAPIES FOR BLINDING EYE DISEASES

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1 EMERGING THERAPIES FOR BLINDING EYE DISEASES Mary Sunderland, PhD, MSc Director of Research & Education Foundation Fighting Blindness ext. 238

2 MISSION Lead the fight against blindness by advancing retinal disease research, education and public awareness.

3 OVERVIEW 1. Introduction to Inherited Retinal Diseases (IRDs) 2. Introduction to gene therapy, stem cell therapy, drug therapies, and artificial vision 3. Clinical trials accepting Canadian patients 4. FFB Patient Registry

4 Inherited Retinal Diseases (IRDs) Mutations in more than 250 genes associated with abnormal vision Can affect retina at any level RPE, photoreceptors, retinal ganglion cells Retinal pigment epithelium (RPE) cell Photorecept or cells Ganglion cell Light enters retina 4

5 What kinds of treatments are being developed for Inherited Retinal Diseases (IRDs)? Artificial Vision ARGUS II APPROVED IN CANADA NOW Stem Cell Therapies NONE APPROVED NOW Drug Therapies Gene Therapies FIRST GENE THERAPY APPROVED IN US in DECEMBER 2017 Retinal pigment epithelium (RPE) cell Photorecept or cells Ganglion cell Light enters retina 5

6 What is Gene Therapy? Gene therapy is an experimental technique to deliver a gene (new DNA) into a patient's own cells to correct a genetic deficiency Genes are located on chromosomes in every cell & provide instructions for making proteins, which carry out all normal functions of the cell 6

7 Types of Gene Therapy Augmentation (missing one copy) Replacement (missing two copies) Restorative (optogenetics) Correction (CRISPR) 7

8 Types of Gene Therapy Augmentation Replacement Restorative Correction 8

9 First Ocular Gene Therapy Approved December, LUXTURNA (voretigene neparvovec-rzyl) received FDA approval in the United States (Spark Therapeutics) Patients with confirmed biallelic RPE65-mediated retinal dystrophy Game-changing milestone for the future of gene therapies January 24, Novartis enters into a licensing and supply agreement to develop, register and commercialize outside US

10 MitoChem Therapeutics, Inc. 10 The field of IRDs is rapidly growing with increased investment and many new companies developing novel therapies

11 Gene Therapy Clinical Trials Accepting Patients from Canada Targeted disease Sponsor Study phase Choroideremia NightstarX Phase 1/ 2 Achromatopsia MeiraGTx UK II Ltd Phase 1/ 2 Achromatopsia CNGB3 or CNGA3 genes AGTC Phase 1/ 2 XLRS AGTC Phase 1/ 2a ENROLMENT COMPLETE XLRP - RPGR AGTC Phase 1/ 2

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13 Patient Registry 4 GOALS 1. To improve our understanding of IRDs 2. To help diagnosis and care for people living with IRDs 3. To plan Canadian clinical trials and identify patients who could be eligible for clinical trials and/or other therapeutic opportunities that may become available in the near future; 4. To inspire and drive research on IRDs

14 If you live in... Alberta British Columbia Maritimes Institution and Site Leader Dr. Ian MacDonald Royal Alexandra Hospital, Edmonton University of Alberta Dr. Kevin Gregory-Evans Eye Care Centre, Vancouver General Hospital Dr. Johane Robitaille IWK Health Centre, Halifax Contact Rita Whitford Yvonne Karen Terry (902) Ontario, Saskatchewan, Manitoba, Quebec, Newfoundlan d and Labrador, The Northwest Territories, Nunavut or the Yukon Dr. Elise Héon Hospital for Sick Children, Toronto Vaishnavi Batmanabane (416) ext vaishnavi.batmanabane@sickki ds.ca

15 FFB Patient Registry Achromatopsia LCA Stargardts Disease XLRS Choroideremia RP Ushers syndrome OTHER

16 Patient Registry

17 Why enroll on the Patient Registry? Joining the Patient Registry is like putting your hand up to show that you have an inherited retinal disease (IRD) and that you support the FFB s goal to develop new sight-saving treatments. Scientists can t develop treatments without patients. The success of clinical trials depends on the participation of patient volunteers.

18 Thank you for helping us fight blindness. ffb.ca Mary Sunderland, PhD, MSc Director of Research & Education Foundation Fighting Blindness ext. 238