There are approximately 7000 rare diseases each affecting fewer than 200,000 Americans. Most rare disorders are caused by gene mutations, manifest in childhood, include neurological problems, and progress rapidly resulting in death in the first several decades of life. Examples include fragile X and Rett syndromes, some childhood epilepsies, Batten diseases, and several types of ataxias, In most instances there are no treatments that slow or reverse the disease process. In this episode I talk with Professor Erika Augustine who is the Associate Chief Science Officer and Director of the Clinical Trials Unit at the Kennedy – Krieger Institute which is devoted to research on and treatment of neurological conditions caused by genetic disorders, birth complications, or traumatic injuries with a focus on children and adolescents. Dr. Augustine talks about the scope of the problems faced by patients with a rare disorder, their families, neurologists, government agencies, and the pharmaceutical industry. To exemplify both the challenges and progress towards effective treatments Dr. Augustine focuses on Batten diseases caused by mutations that impair lysosome functions and cause severe progressive neurological deficits that begin early in life. An effective treatment for one of the Batten diseases was recently approved by the FDA providing one of the first successes in moving from basic research to the clinic.

LINKS:

Dr. Augustine’s biography in Wikipedia:

https://en.wikipedia.org/wiki/Erika_F._Augustine

Kennedy – Krieger Institute:

https://www.kennedykrieger.org/?gad_source=1&gclid=CjwKCAjwl6-3BhBWEiwApN6_ksQGX9fZCTAZpUSzJNw4sHdr2EyRmm_d3tYPHzQpAEOpBuC0uDGZVRoCSGQQAvD_BwE

Batten Diseases Clinical Trials:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7736171/pdf/nihms-1641434.pdf

Enzyme replacement therapy for CLN2 Batten disease: https://www.pedneur.com/action/showPdf?pii=S0887-8994%2820%2930149-1

Gene therapy for rare neurological disorders:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527017/pdf/fnmol-14-695937.pdf