End the Legacy, Dedicated to Providing Resources to and Advocating for the Genetic ALS and FTD Community, Presenting to FDA January 12

Philadelphia, PA, January 10, 2023 --(PR.com)-- Individuals impacted by hereditary ALS and FTD announce the establishment of a nonprofit organization dedicated to supporting and advocating for their community, Genetic ALS & FTD: End the Legacy. ALS and FTD are neurodegenerative diseases. ALS affects the motor system and leads to rapidly progressive weakness and death over 2-5 years while FTD affects neurons in the frontal and temporal lobes leading to progressive dementia. These disorders can occur both independently or together in the same individual as well as within the same family. Further, several genetic changes can result in either or both diseases.

This new organization will operate under the ALS Hope Foundation umbrella. The ALS Hope Foundation is dedicated to making a difference to people living with ALS through clinical care, research, and education. Together, these organizations will develop educational programs about familial ALS and FTD as well as establishing support groups for members of the familial ALS and FTD community. In addition, these two organizations will engage the medical community to establish guidelines for care of pre-symptomatic gene carriers in a conference that is in the planning stages.

Additionally, “End the Legacy” will advocate for the hundreds of thousands of people at higher risk for developing Amyotrophic Lateral Sclerosis or FTD through the inheritance of a mutated gene that runs in their family.

“As research reveals more about genetic risk and new treatments become available including treatments directed at genetic changes, those of us who carry genetic changes that increase our risk feel it is time to acknowledge and address this risk. This means education of our community as well as finally moving towards prevention, early treatment, and advocacy for our community,” said founding End the Legacy Chair Jean Swidler, a carrier of the C9orf72 Repeat Expansion.

The first advocacy efforts of End the Legacy will include a presentation of community perspectives to the FDA on January 12th in a private Patient Listening Session for the Pre-Diagnosis Genetic ALS and FTD Community. A webinar presenting the information provided to the FDA will be streamed online January 19 at 8pm EST. www.eventbrite.com/e/502784390647 During the planned presentation, community members impacted by mutations in C9orf72, GRN, Sod1, and Tardpb will discuss their experiences and perspectives losing multiple family members to these diseases and being at risk for them especially related to trial participation and early treatment with approved medications.

Dr Heiman-Patterson and Jean became connected serving as joint co-chairs of an NIH working group of the National Institutes of Health ALS Strategic Plan. Given her long time interest in making a difference to the ALS community and the progress being made in treatment of ALS, Dr. Heiman-Patterson recognized that the time has come to also make a difference to those at genetic risk for ALS. To this end she will be organizing the medical community to discuss guidance in the care of pre-symptomatic gene carriers and has lent support to the efforts of End the Legacy through the ALS Hope Foundation, an organization co-founded by Dr. Heiman-Patterson and dedicated to make a difference to people living with ALS.

“The ALS Hope Foundation is proud to expand our programs through End the Legacy to include education and advocacy for the familial ALS and FTD community and especially those people who carry genetic changes that put them at high risk of developing the disease. This is important and critical to prevention and to making a difference to the entire community. As a physician caring for people living with ALS, I want to also consider how to care for those who are at high risk of developing disease,” said Dr Heiman-Patterson.

About Genetic ALS/FTD:

ALS causes progressive and ultimately fatal paralysis. FTD causes progressive and fatal dementia with many different manifestations, most commonly a behavioral dementia or a progressive aphasia. They have been known to run in some families for generations. The genes responsible for this inheritance became known in the 1990s, and are identified in most ALS and FTD cases where the patient has a clear family history of the disease and in small but significant numbers of ALS and FTD patients who do not report a family history. Most of the genes are autosomal dominant meaning children of patients with the mutation have a 50/50 chance of inheriting it. Most genes have a high, though not complete, penetrance with research ongoing. While there have been several ALS modifying therapies approved and one treatment under consideration at the FDA for the genetically determined SOD1 variant of familial ALS, there is no guidance for when or whether to start these agents in people at high risk for developing ALS as they are carriers of genetic mutations that underlie the disease in their families. Further, there has been a lack of education and support for people who carry genetic mutations for both ALS and FTD. The importance of efforts at education, support and care for presymptomatic gene carriers is underscored by the calculated hundreds of thousands of people in the US that are affected.