The Intersection of Gene Therapy and Rare Disease

By: Joseph La Barge, CEO of Apertura Gene Therapy

The Orphan Drug Act, which is now celebrating its 40th anniversary, defines a rare disease as a disease or condition that affects less than 200,000 people in the U.S. In this country alone, there are more than 7,000 known rare diseases affecting more than an estimated 30 million people, yet less than 10% of these rare diseases have an available FDA-approved treatment. While these diseases are designated as “rare,” the collective population of people living with a rare disease characterizes one of the largest underserved patient communities across the globe.

Observed annually on the last day of February, Rare Disease Day is February 29 – the rarest day on the calendar. This globally-coordinated movement works toward equity in social opportunity, healthcare and access to diagnosis and therapies for people living with a rare disease. To learn more or get involved, visit the official Rare Disease Day website.

Joseph La Barge
CEO of Apertura Gene Therapy

The intersection of gene therapy and rare disease holds tremendous promise, as more than 80% of rare diseases have a known monogenic (single-gene) cause.

The intersection of gene therapy and rare disease holds tremendous promise, as more than 80% of rare diseases have a known monogenic (single-gene) cause1. These chronic conditions typically necessitate a lifetime of frequent administration of a drug or drugs to manage symptoms, whereas a successful gene therapy may only require a single dose to produce lifelong symptom improvement. Although the typical investment in the discovery and development of a gene therapy, in addition to the ultimate drug cost, is high, the potential patient impact is extraordinary.

I recently had the pleasure of sitting down with Danny Levine, host of Global Genes’ podcast RARECast, which focuses on the intersection of rare disease with business, science and policy. We discuss the evolution of the gene therapy field, current limitations in AAV gene therapy development and my mission and role as CEO of Apertura. You can listen to the podcast here. Global Genes is one of many rare disease patient advocacy groups building awareness and fostering community for patients, caregivers, scientists, biopharma companies and healthcare professionals alike working with a single goal in mind: to improve outcomes of people living with a rare disease.

As I discussed with Danny, at Apertura we believe gene therapy holds enormous potential in treating rare diseases, but like every new therapeutic modality, we need to constantly innovate to advance the field. We are leveraging a pair of platform technologies developed at the Broad Institute of MIT and Harvard and Harvard Medical School, applying our engineering efforts to innovate inside and outside AAV capsids. By combining these two platforms, we aim to address some of the current challenges in gene therapy and ultimately unlock opportunities to provide treatments for patients in need – including those living with debilitating rare diseases.

With the patient as our guiding north star, Apertura is committed to growing the field of gene therapy by advancing our own pipeline of gene therapies as well as harnessing our platforms in collaboration with corporate and academic partners, patients, disease foundations and patient advocacy groups.

On this anniversary of the Orphan Drug Act, Rare Disease Day and every day, Apertura is expanding the promise of gene therapy by opening opportunities for treating a broad range of debilitating diseases with limited options. Together, we can drive the next breakthroughs across an entire spectrum of genetic disorders to treat as many patients as possible.

Visit Apertura’s website to learn more about our team, mission, and technology.

  1. National Institutes of Health, National Center for Advancing Translational Sciences. (2022, March 18). Gene Therapy Platform for Rare Diseases. https://ncats.nih.gov/trnd/projects/gene-therapy