Genetic Ophthalmology Disorders Drug Development Pipeline Review, 2017
Published By : GBI Research Published Date : 2017-08-01 Category : Pharmaceutical & Healthcare Sub Category : Pipeline Analysis No. of Pages : 138

Genetic Ophthalmology Disorders Drug Development Pipeline Review, 2017


This report provides an overview of the pipeline landscape for genetic ophthalmological disorders. The report provides comprehensive information on the therapeutics under development and key players involved in therapeutic development for Stargardt disease, Leber congenital amaurosis, Leber’s hereditary optic neuropathy, Usher Syndrome and Retinitis pigmentosa, and features dormant and discontinued projects.

Juvenile macular degeneration is a series of inherited eye disorders that affects children and young adults, with the most common form being Stargardt disease, an inherited autosomal recessive syndrome. Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. It is the most common cause of inherited blindness in childhood. Leber’s hereditary optic neuropathy usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. Usher syndrome is characterized by hearing impairment and progressive vision loss. The major symptoms of Usher syndrome are hearing loss and secondary retinitis pigmentosa. Finally, retinitis pigmentosa refers to a group of diseases which cause a slow but progressive vision loss. Symptoms include night blindness and loss of peripheral vision.

The size of these pipelines ranges from six products in Usher syndrome to 54 in retinitis pigmentosa. Gene therapies represent the most common type of therapy among these diseases, followed by small molecules. This reflects the therapeutic aim of repairing the defective gene in order to correct the patient’s phenotype. Likewise, the molecular targets which are acted on are typically clustered around the causative gene within each disease, although there are exceptions. Within retinitis pigmentosa in particular, there is a diversity of molecular targets.


- Which companies are the most active within the pipeline for genetic ophthalmological disorder therapeutics?
- Which pharmaceutical approaches are the most prominent at each stage of the pipeline and within each indication?
- To what extent do universities and institutions play a role within this pipeline, compared to pharmaceutical companies?
- What are the most important R&D milestones and data publications to have happened in the field of genetic ophthalmological disorders?

Reasons to buy

- Understand the overall pipeline, with an at-a-glance overview of all products in therapeutic development for each indication
- Assess the products in development in granular detail, with an up-to-date overview of each individual pipeline program in each indication, and a comprehensive picture of recent updates and milestones for each
- Analyze the companies, institutions and universities currently operating in the pipeline, and the products being fielded by each of these
- Understand the composition of the pipeline in terms of molecule type, molecular target, mechanism of action and route of administration

GBI Research Report Guidance 2
Executive Summary 3
Table of Contents 4
List of Tables 6
List of Figures 9
Introduction 11
Genetic Ophthalmology Disorders Report Coverage 11
Juvenile Macular Degeneration (Stargardt Disease) - Overview 11
Leber Congenital Amaurosis (LCA) - Overview 11
Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) - Overview 11
Usher Syndrome - Overview 11
Retinitis Pigmentosa (Retinitis) - Overview 11
Therapeutics Development 12
Juvenile Macular Degeneration (Stargardt Disease) 12
Leber Congenital Amaurosis (LCA) 16
Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) 20
Usher Syndrome 23
Retinitis Pigmentosa (Retinitis) 26
Therapeutics Assessment 33
Juvenile Macular Degeneration (Stargardt Disease) 33
Leber Congenital Amaurosis (LCA) 41
Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) 48
Usher Syndrome 55
Retinitis Pigmentosa (Retinitis) 62
Companies Involved in Therapeutics Development 71
Juvenile Macular Degeneration (Stargardt Disease) 71
Leber Congenital Amaurosis (LCA) 74
Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) 77
Usher Syndrome 81
Retinitis Pigmentosa (Retinitis) 83
Dormant Projects 96
Juvenile Macular Degeneration (Stargardt Disease) 96
Leber Congenital Amaurosis (LCA) 96
Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) 96
Usher Syndrome 97
Retinitis Pigmentosa (Retinitis) 97
Discontinued Products 99
Retinitis Pigmentosa (Retinitis) 99
Product Development Milestones 100
Juvenile Macular Degeneration (Stargardt Disease) 100
Leber Congenital Amaurosis (LCA) 108
Leber’s Hereditary Optic Neuropathy (LHON) (Leber optic atrophy) 117
Usher Syndrome 123
Retinitis Pigmentosa (Retinitis) 124
Appendix 137
Methodology 137
Coverage 137
Secondary Research 137
Primary Research 137
Expert Panel Validation 137
Contact Us 137
Disclaimer 138