April Newsletter

The Pharmaceutical Development Committee (PDC) has been working on a variety of programs to advance the development of therapies for APBD. Its focus has been on advising and building connections with promising academic research programs for APBD as well as establishing connections with biotech companies developing therapies either directly for APBD or for similar diseases with treatments that would benefit APBD patients. 
One example of the PDC’s collaborative effort with the research community was its role in driving last year’s Biomarker Workshop, which included members of the Foundation’s Scientific Advisory Board and outside experts on biomarker research who discussed potential biomarkers for future clinical studies for APBD.
The PDC has also established strong working relationships with five different Biotech companies working on a variety of potential therapies for APBD. The therapies are all unique and range from gene therapy to correct the errant GBE gene to drugs that can reduce Polyglucosan Body formation.  Through collaboration with our researchers, the PDC facilitates sharing important information key to drug development for these Biotech companies. This includes offering established information on APBD such as animal models from our academic partners at Columbia University, bio-samples collected from patients, disease prevalence, and impact studies (such as Quality of Life). Building these relationships, the PDC hopes to bring meaningful therapies to APBD patients in the very near future.

For more detailed information on these promising programs see our webpage for “What We’re Working On.”


Catherine Fanning
Chair of APBD Research Foundation Pharmaceutical Development Committee
APBD Patients -- Research Alert! 

We are looking for US-based APBD patients with the “intronic GBE1 mutation” for clinical evaluation and for potential future clinical research studies.

This “intronic GBE1 mutation” has the technical name of 
"GBE1-IVS15 + 5289_5297delGTGTGGTGGinsTGTTTTTTACATGACAGGT." Individuals with this mutation may have also been told they have "compound heterozygous" mutations. In the early years of APBD research, they may have been told that they were "manifesting heterozygotes."

People with APBD who have or suspect they have this mutation should contact Harriet Saxe, our Volunteer for Patient Outreach, by this Friday, April 30, 2021. 

Harriet's email address is intronic@apbdrf.org. Let her know of your interest or, if you are assisting a family member who has APBD, let her know of your loved one's interest. Harriet will work with you to gather the needed information.

Join our APBD Tour de Friends Virtual Team in our sixth participation in the Million Dollar Bike Ride for rare disease research. Help fund research projects aimed at much-needed treatments for APBD.

 -- For "Registration Type,” select Register WITHOUT fundraising
(Use promo code MDBR2021 for a special reduced rate!)
-- For "Event Information,” select the APBD Tour de Friends team 

You can bike, spin, scooter, rollerblade, push a stroller, sit in your favorite spot, promenade your pet, or simply donate to help.

Thank you for your support!

From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals in an effort to build community and collaboration. Our upcoming events include:

Patient Chat: Engaging a Remotely-Based Personal Trainer
Guest Speaker: Bob Nelson, MS, LMT, CPT
April 28, 2021, 8pm ET/5pm PT

Caregiver/ Family Chat
May 13, 2021, 8:30pm ET/5:30pm PT

Patient Chat: APBD and Nutrition
Guest Speaker: Yael Kuperman, RD, PhD (Weizmann Institute of Science, Israel)
May 20, 2021, 2:15pm ET/11:15am PT

To learn more about these Chats and to participate, email us at info@apbdrf.org