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, as soon as possible, but no later than 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.
Wishing you well,
APBD Research Foundation