Hope for Patients With Rare Diseases
Advocacy Personalized treatments for patients with very rare diseases point to a brighter future.
By the age of three, Talia Duff was still not able to walk on her own, and her family noticed signs her strength was declining. After years of failed treatments, surgeries and unanswered questions, she was finally diagnosed with CMT4J, a very rare form of a neurological disorder called Charcot-Marie Tooth (CMT) disease. There are only about 30 other known cases worldwide, and no cure yet.
But I have hope.
At The Jackson Laboratory (JAX), a nonprofit biomedical research institute, I, along with my team of scientists, develop mouse models of disease to test therapeutics and inform clinical trials for patients like Talia.
So when approached by Talia’s family and the CureCMT4J Foundation in 2016, I was honored to take on the challenge of searching for a cure for her rare disease.
My colleagues and I tested a new gene therapy on mouse models that mimic Talia’s disease. We have made great progress—the mice survived longer, and all of their fine motor functions improved. Now, we’re working with the FDA on a clinical trial design. Talia is 13 years old, and time is of the essence.
An approach that works
This approach is personalized and precise for Talia, but it also holds promising implications for other rare conditions, and more common diseases. And, most important, this approach is working.
Our past research and mouse models supported the development of Spinraza®, the first FDA-approved drug to treat spinal muscular atrophy (SMA), a rare neurodegenerative disease that affects children.
And today, many more therapies for the treatment of rare diseases are in clinical trials, with promising results, on the verge of FDA approval. I believe there are many victories that lie ahead for patients with rare diseases.
A Community Effort
There is no one laboratory that is going to cure a rare disease. That’s why my colleagues and I partner with families, foundations, donors, other scientists worldwide and pharmaceutical and biotech companies to facilitate research into treatments. It’s going to take more than one individual. It’s going to take a community effort. It’s going to take us working together – for Talia, and for patients and families across the globe.