Skip to main content
HHS Logo U.S. Department of Health & Human Services Divider arrow NIH logo National Institutes of Health Alt desc
Therapeutics for Rare and Neglected Diseases

Gene Therapy Platform for Rare Diseases

Genetic Therapies for Rare Diseases

There are approximately 7,000 identified rare diseases, yet only a few hundred have treatments are approved. Gene therapy is particularly relevant to rare disease patients, as more than 80 percent of rare diseases have a known monogenic (single-gene) cause. Traditional small molecule drugs often work by minimizing symptoms rather than curing the disease. When treating a chronic condition, this can mean frequent administration of the drug or drugs required to manage the condition. In contrast, gene therapy has the potential to correct underlying genetic defects, offering a cure rather than simply managing symptoms. Moreover, successful gene therapy may require only a single dose to confer lifelong improvement rather than requiring a lifetime of ongoing treatment.

Developing a Gene Therapy "Toolbox"

Scientists have been researching gene therapies for decades, but the U.S. Food and Drug Administration only recently approved the first gene therapy for patients in 2017. As a new modality of treatment, gene therapy presents unique technical and regulatory challenges. To help accelerate the field of gene therapy, the TRND program has initiated a suite of pilot projects in collaboration with biotechnology and academic groups.

Projects are designed to address specific obstacles in gene therapy development. New technologies to scale up gene-vector manufacturing and to deliver the transgene to the right tissue at the right time and dosage are being developed. TRND’s goals are to develop these technologies and disseminate the best practices to achieve regulatory approval for new gene therapies. By building a toolbox of technologies and information, TRND aims to improve the speed of development and reduce costs for gene therapy in general.

Technologies Under Development


  • Plug-and-play manufacturing processes for AAV (adeno-associated virus) serotypes
  • Compendium of standard analytical and bioanalytical methods
  • Cell suspension technology
  • Cell potentiation technology


  • Devices to deliver therapeutic vector to the CNS (central nervous system)
  • Platform vectors to deliver groups of transgenes to targeted tissues

Projects In Platform

Therapeutic Area

Vector Technology


AADC Deficiency


Agilis Biotherapeutics

Pompe Disease


Duke University

Duchenne Muscular Dystrophy


Solid Biosciences; University of Missouri



  • Brook PJ, Yang NN, Austin CP. Gene therapy: the view from NCATS. Hum Gene Ther. 2016 Jan;27(1):7–13.
  • Kodippili K, Hakim CH, Pan X, Yang HT, Yue Y, Zhang Y, et al. Dual AAV gene therapy for Duchenne muscular dystrophy with a 7-kb mini-dystrophin gene in the canine model. Hum Gene Ther. 2017 Aug 4. doi: 10.1089/hum.2017.095.
  • Nance ME, Hakim CH, Yang NN, Duan D. Nanotherapy for Duchenne muscular dystrophy. Wiley Interdiscip Rev Nanomed Nanobiotechnol. 2017 Apr 11. doi: 10.1002/wnan.1472.
  • Han SO, Ronzitti G, Arnson B, Leborgne C, Li S, Mingozzi F, Koeberl D. Low-dose liver-targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction. Mol Ther Methods Clin Dev. 2017 Jan 11;4:126–36. doi: 10.1016/j.omtm.2016.12.010.
  • Hwu WL, Muramatsu S, Tseng SH, Tzen KY, Lee NC, Chien YH, et al. Gene therapy for aromatic L-amino acid decarboxylase deficiency. Sci Transl Med. 2012 May 16;4(134):134ra61. doi: 10.1126/scitranslmed.3003640.

Related Information