The FDA has granted both Orphan Drug Designation and Rare Pediatric Disease Designation for Tikun Therapeutics Inc.’s rAAV2-U1a-hELP1, a recombinant adeno-associated virus expressing the human ELP1 gene for the treatment of optic neuropathy in familial dysautonomia (FD), and for BPN-36964, a small molecule splicing modulator for systemic treatment of familial dysautonomia.

FD is a severe orphan disease that is present at birth and characterized by sensory and autonomic dysfunction. Classic hallmarks include reduced pain and temperature sensation, impaired swallowing and cardiovascular instability. As patients enter their teen years, they also develop a progressive loss of vision and balance. The disease is autosomal recessive, and results from inheritance of a point mutation in the gene ELP1; over 99.5% of patients are homozygous for the original founder mutation.

There are no approved disease-modifying therapeutics that rectify the FD genetic mutation, nor prevent the progressive neurodegeneration that occurs as FD children mature. Tikun Therapeutics is driving the development of two therapeutics:

• a gene replacement therapy, AAV2-U1a-hELP1
• a small molecule splicing modulator,  BPN-36964

“We are excited to receive these designations from the FDA, which emphasize the potential of both rAAV2-U1a-hELP1 and BPN-36964 to make a meaningful impact on the lives of FD patients and their families,” said Adam Sachs, President and CEO of Tikun Therapeutics and a long time biopharmaceutical executive and father of an FD patient. “This recognition highlights the commitment and dedication of our research scientists to advance treatments for this ultra rare and devastating disease.”

“Having two different therapeutic mechanisms with distinct delivery routes for treating FD is tremendously promising. While many symptoms of the disease are present at birth, it has become very clear that we can reduce, and perhaps prevent altogether the progressive blindness and balance disorder that patients develop as they enter their teens,” said Frances Lefcort, CSO of Tikun Therapeutics.