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Workshop Recap: The Promise of Gene Therapy Approaches to Rare Diseases

By September 27, 2018December 18th, 2023Science & Research

WORKSHOP RECAP: The Growing Promise of Gene Therapy Approaches to Rare Diseases

On Aug 20-21, 2018 the National Center for Advancing Translational Sciences (NCATS) and FDA’s Center for Biologics Evaluation and Research (CBER) hosted a workshop on gene therapy in Bethesda, MD. Titled ‘The Growing Promise of Gene Therapy Approaches to Rare Diseases’, the workshop was attended by experts from academia and industry, NIH and FDA staff, representatives from several rare disease foundations, and other stakeholders. The two-day event was filled with presentations and panel discussions on advancements and challenges in preclinical and clinical development of gene therapy products, vector manufacturing processes, public-private partnerships including with research foundations, business models, patient access especially in very low prevalence diseases, and reimbursement models.


The preclinical session began with a presentation by Dr. John Chiorini, National Institute of Dental and Craniofacial Research, on gene therapy for radiation-induced salivary gland loss of function in head and neck cancer patients. Dr. Chiorini summarized data that showed that single-dose delivery of aquaporin 1 gene to radiation-damaged salivary glands of model animals resulted in long-term restoration of saliva secretion. A clinical trial was subsequently initiated and improved salivary gland output was seen in half of the patients enrolled. Observations from this trial were used to change the gene delivery vehicle, and a second clinical trial is currently ongoing.

Dr. Leonela Amoasii, University of Texas Southwestern Medical Center, showed how their research group is using CRISPR/Cas9 genome editing technology to rectify the molecular defects in Duchenne muscular dystrophy, a progressive muscle degeneration disorder occurring in boys. A one-time injection of CRISPR in canine models corrected dystrophin expression in peripheral muscles, diaphragm, and heart muscles. Further validations of the technique are ongoing and Dr. Amoasii is optimistic that the study can eventually address molecular defects in 80% of DMD patients.

Dr. Harry Malech, National Institute of Allergy and Infectious Diseases, concluded the preclinical session by presenting several case studies to illustrate the importance of myeloablative conditioning in hematopoietic stem cell gene therapy.


In the clinical session, Dr. Jerry Mendell from Nationwide Children’s Hospital presented results of their gene therapy clinical trial for spinal muscular atrophy (SMA), a rare life-threatening neuromuscular disorder. A single intravenous infusion of the therapy vector in infants with SMA significantly alleviated the symptoms and improved survival. Phase III clinical trials for this therapy are ongoing.

Dr. Chester Whitley, University of Minnesota, gave an overview of the development and progress of gene therapy for lysosomal diseases, which was followed by a talk by Dr. Doug Martin from Auburn University on GM1 gangliosidosis, an inherited lysosomal storage disease.

Dr. Florian Eichler, Harvard Medical School, summarized results from the Starbeam study, an ongoing gene therapy clinical trial for cerebral adrenoleukodystrophy that involves transplanting a patient’s own engineered stem cells..


The second day of the workshop began with a panel discussion on academia-industry partnerships, portfolio management, and patient engagement. The diverse panel, comprised of representatives from venture capital firms, universities, regulatory agencies, and foundations, discussed the approaches for creating companies out of academic findings with the eventual goal of bringing those discoveries to the patient. The session on patient access and business models included two compelling presentations from a patient’s perspective, showing the social, economic, and emotional impact an illness can have on a patient’s family and also the broader society. The session ended with Dr. Marianne Lopez’s talk on value-based payment reforms and how they would be especially significant in gene therapy, whose long-term benefits and risks can be varied and unpredictable.


In the final session titled ‘No Disease Left Behind’, Dr. Barry Byrne, Dr. Steven Gray, and Dr. Scott Dorfman talked about gene therapy efforts in three very low prevalent diseases, Barth syndrome, giant axonal neuropathy, and Usher syndrome, respectively. Their talks especially highlighted the crucial role that nonprofit foundations / a nonprofit mission can play in advancing research and care in the rare disease sector. Dr. Keith Wonnacott of Pfizer gave a regulatory perspective on the development of products for rare diseases. He also commented on the FDA’s recently released guidelines on gene therapy, and emphasized how they indicate FDA’s commitment to facilitate the advancements in gene therapy.

The video recordings of the workshop are available here:

Day 1:

Day 2:



Recognizing the advances in gene therapy and their potential in rare diseases, CTF has announced the initiation of a research program in gene-based therapeutic approaches for the treatment of NF1. This initiative will support two proof of principle in vitro studies to investigate the feasibility of genome editing techniques, such as those based on CRISPR-Cas9, to correct pathogenic mutations in NF1 gene. The ultimate goal of this initiative is to explore the development of genome editing as a potential therapeutic tool for NF1. Details of the initiative can be found at