Rare Disease and Regenerative Medicine

Rare Disease and Regenerative Medicine

Rare Disease and Regenerative Medicine

Rare diseases are disorders that affect fewer than roughly five in 10,000 people worldwide. These diseases are typically genetic in nature and often can be debilitating. Taken as a whole, there are nearly 7,000 different rare diseases currently identified. This adds up to a total patient population of roughly 30 million people in the U.S. and an estimated 350 million people worldwide.

Congress passed the Orphan Drug Act of 1983 to help spur research in rare disease treatment. The act allows companies to designate a potential therapy with orphan status if it is being tested for the treatment of a rare disease. This designation provides regulatory benefits such as Fast Track status, which reduces delays within the FDA review process, guaranteed market exclusivity, as well as financial incentives in the form of research grants and tax credits to companies actively pursuing therapies in the rare disease space.

Significant progress in the fields of gene and cell therapy have opened up the possibility of durably treating and potentially curing many of these rare genetic diseases. The premise behind these therapies is relatively straightforward: patients with the rare disease gene are producing too much of, not enough of, or a diseased version of a particular protein or chemical, and the therapy is intended to add in or replace the proper version of that gene.

  • 80% of rare diseases have identified genetic origins

Current therapeutic approaches include gene and cell therapy:

  • In gene therapy, a delivery vehicle (often an engineered virus) will deliver a correct version of the gene of interest or will silence the diseased gene in a patient’s cells.
  • In cell therapy, an engineered cell line is used to introduce a properly functioning gene in order to deliver the intended therapeutic effect.

Examples of ARM Members Active in Rare Diseases

AGTC is currently investigating AAV delivered gene therapy for X-linked retinoschisis, alpha-1 antitrypsin deficiency and achromatopsia. 

Abeona Therapeutics
Abeona is engaged in clinical trials in both the United States and Europe for the treatment of Sanfilippo Syndrome type A and B, a rare lysosomal storage disorder, using an AAV vector for gene therapy.

Audentes Therapeutics
Audentes Therapeutics currently has IND-enabling research into a variety of gene therapy targets, including X-linked myotubular myopathy and Crigler-Najjar syndrome type 1.

bluebird bio
bluebird bio’s chief technology, a lentivirus vector for the delivery of targeted gene therapy, is currently being evaluated in clinical studies for the treatment of Chronic Childhood Adrenoleukodystrophy (CCALD). The same technology is also in clinical trials for the treatment of beta-thalassemia major and severe sickle cell disease.

Capricor Therapeutics
Capricor’s lead product candidate, CAP-1002, is an investigational cell therapy being used for the treatment of cardiomyopathy caused by Duchenne muscular dystrophy.

Editas Medicine
While Editas currently does not have ongoing trials, their groundbreaking work in CRISPR/Cas9 and TALEN technology will allow them to move into trials in the near future on Leber congenital amaurosis, a rare ocular disease.

Fibrocell has combined their autologous fibroblast technology with a collaborator, Intrexon Corporation, to create a gene therapy product for the treatment of chronic dysphonia, currently in clinical trials.

GSK has a strong pipeline of rare disease therapeutics. Using an ex-vivo stem cell therapy approach, GSK received approval from the European Commission for Strimvelis as a treatment for adenosine deaminase severe combined immune deficiency (ADA-SCID).  Through their strategic collaboration with San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), this approach is being used for two further development programmes: Metachromatic Leukodystrophy (MLD) and Wiskott-Aldrich Syndrome (WAS) which are both currently in clinical trials.

Juventas Therapeutics
Juventas is currently working on a non-viral gene therapy platform using stromal cell-derived-factor-1 for a variety of indications in the treatment of damaged tissues.

Lysogene’s lead therapy candidate, LYS-SAF302, is currently in clinical trials using their proprietary rAAV vector for the treatment of Sanfilippo type A.

Sangamo Therapeutics
Sangamo Therapeutics, a pioneer in the field of zinc finger nucleases (ZFNs), is currently exploring a phase I trial for a ZFN gene insert in the treatment of hemophilia B. The company is also exploring the zinc finger platform for the treatment of various other diseases.

REGENXBIO is currently exploring gene therapy treatment options for homozygous familial hypercholesterolemia, a severe genetic disorder causing uncontrolled high cholesterol and associated heart disease, using their NAV vector, an engineered version of the adeno-associated virus (AAV).

Voyager Therapeutics
Voyager Therapeutics currently has several programs in their pipeline using an AAV vector for gene therapy of Friedreich’s Ataxia, Monogenic ALS, Huntington’s disease and spinal muscular atrophy.


Reviewed by January 2016, Karen Kozarsky, Ph.D., Vector BioPartners