Pietro Fratta, MD, PhD

Pietro Fratta, MD, PhD

University College London

Disease Areas

Neuroscience, Musculoskeletal, Rare/Orphan


A Muscle-Targeted Gene Therapy for Kennedy's Disease, A Rare Neuromuscular Disease

Scholar Profile

2021 Harrington UK Rare Disease Scholar

Kennedy’s Disease (KD), or Spinal Bulbar Muscular Atrophy, is a rare, slowly progressing adult onset neuromuscular disorder characterized by the degeneration of neurons within the
spinal cord and brainstem, accompanied by atrophy of skeletal muscle. Only males are affected, developing progressive weakness and wasting of muscles in arms and legs, as well as in the facial region, resulting in difficulty with swallowing and speech. There are
currently no effective treatments.

A genetic disease, KD is caused by an abnormal expansion of DNA in the androgen receptor gene (AR) found on the X chromosome. Studies have shown that silencing the androgen receptor gene in muscles is able to fully rescue the disease. However, this approach may reduce AR in other tissues and organs, inducing significant side effects.

“We are developing a virally-delivered gene therapy approach where the AR gene is silenced only in muscles,” Dr. Fratta says. “Thus, benefits would be provided to the neuromuscular symptoms while avoiding the threat of side-effects. This method would require just one dosage, which is a godsend for such a long-term condition.”

As Dr. Fratta’s lab is among the largest KD clinics in the world, they are also working on providing biomarkers and outcome measures that will allow for more effective clinical trials with this disease.

"Our Harrington team is brilliant — and so involved, following the project step by step."

Source: Article from 2020-2021 Annual Publication

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish.


This website uses cookies to improve your experience while you navigate through the website. Out of these cookies, the cookies that are categorized as necessary are stored on your browser as they are essential for the working of basic functionalities of the website. These cookies do not store any personal information.


We also use third-party cookies that help us analyze and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these cookies. But opting out of some of these cookies may have an effect on your browsing experience. It is mandatory to procure user consent prior to running these cookies on your website.

Sign Up

Become a part of our community and receive periodic communications with news and updates, as well as notifications of grant funding opportunities.