Gene therapy for rare diseases

Gene therapies provide hope of a one-time treatment for numerous rare diseases that currently have no specific therapeutic options. Recent advances in genetic engineering and recombinant viral vector development have ignited interest in the field, with several gene therapy products gaining approval.  However, despite these successes, challenges in the field remain. This Collection explores recent improvements and applications of viral vector platforms for gene therapy delivery, with a focus on rare diseases.

In the first article, Gao and colleagues provide an overview of adeno-associated virus (AAV) vectors, discuss current trends and challenges in the field of AAV vector-mediated gene therapy and highlight key milestones that have enabled the transition of this platform to the bedside. In the second article, Cavazzana and colleagues assess the potential of using retroviral vectors for the genetic modification of haematopoietic stem and progenitor cells as an alternative to allogeneic transplantation in the treatment of rare inherited diseases, review clinical trial findings and address ongoing challenges in the field. In the final article, Tambuyzer and colleagues assess the respective strengths and limitations of the main therapeutic modalities — including gene therapy — as platforms for rare disease treatments, highlighting key characteristics, clinical successes and approvals.

AveXis, a Novartis company, is the world’s leading gene therapy company, redefining the possibilities for patients and families affected by life-threatening genetic diseases through our innovative gene therapy platform.

Founded in 2013 and headquartered in Bannockburn, IL, the goal of AveXis’ cutting-edge science is to address the underlying, genetic root cause of diseases. AveXis pioneered foundational research, establishing AAV9 as an ideal vector for gene transfer in diseases affecting the central nervous system, laying the groundwork to build a best-in-class, transformational gene therapy pipeline.

AveXis received its first U.S. Food and Drug Administration approval in May 2019 for the treatment of spinal muscular atrophy (SMA). AveXis is also developing therapies for other genetic diseases, including Rett syndrome, a genetic form of amyotrophic lateral sclerosis (ALS) SOD1 and Friedreich’s ataxia

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uniQure is delivering on the promise of gene therapy -- single treatments with potentially curative results. 

We are leveraging our modular and validated technology platform to rapidly advance a pipeline of proprietary and partnered gene therapies to treat patients with hemophilia, Huntington’s disease and other severe genetic diseases.

We are advancing a focused pipeline of innovative gene therapies. We are currently conducting a pivotal phase 3 trial in our lead indication, hemophilia B, and have initiated a phase 1/2 trial in Huntington’s disease.  Our pipeline of adeno-associated virus (AAV)-based gene therapies has been developed using an innovative technology platform, supported by industry-leading proprietary commercial-grade manufacturing capabilities.


Voyager Therapeutics, Inc develops gene therapies for people living with severe neurological diseases. These include Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis (ALS), Friedrich’s ataxia, Alzheimer’s disease and other genetically defined neurological disorders. Voyager is a leader in adeno-associated virus (AAV) vector engineering, manufacturing and delivery to the nervous system. Our work begins with a commitment to patients, their families and care providers. We apply our expertise in research, development and manufacturing in unlocking the potential of gene therapies to advance the treatment options for fatal or life-limiting neurological disorders. Founded by scientific and clinical leaders in the fields of AAV gene therapy, expressed RNA interference and neuroscience, Voyager is headquartered in Cambridge, Massachusetts. For more information on Voyager, please visit the Company’s website at