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Tikun Therapeutics Receives FDA Orphan Drug and Rare Pediatric Disease Designations to Treat Familial Dysautonomia

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Tikun drives both a gene replacement therapy and a small molecule splicing modulator to treat familial dysautonomia

NEW YORK, NY, January 22, 2025 / Biotech Newswire / -- Tikun Therapeutics Inc. is pleased to announce that the FDA has granted both Orphan Drug Designation and Rare Pediatric Disease Designation for 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.

Tikun Therapeutics is an early-stage Public Benefit Corporation (PBC) wholly owned by the Familial Dysautonomia Foundation, supported by both grants and donations and focused on driving drug development for the ultra rare and progressive genetic disease familial dysautonomia (FD).

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: (1) a gene replacement therapy, AAV2-U1a-hELP1, and (2) a small molecule splicing modulator,  BPN-36964. Each therapeutic has its advantages with the small molecule oral treatment being able to efficiently pass the blood-brain barrier and correct ELP1 mRNA splicing throughout the entire body. In an FD mouse model, small molecule splicing modulators like BPN-36964 have been shown to correct ELP1 mRNA splicing, increase the amount of ELP1 protein, and prevent the progressive neuronal degeneration seen in FD. BPN-36964 is being developed in collaboration with Professor Susan Slaugenhaupt’s laboratory at Massachusetts General Hospital.

While the gene replacement therapy vector can also be used systemically, the initial focus is to specifically prevent the severe progressive optic neuropathy that virtually all FD patients develop. Optic neuropathy in FD is due to the death of retinal ganglion cells (RGCs) that occurs as children mature. There is currently no treatment and patients typically lose their vision during their second or third decade of life, dramatically reducing their quality of life. Because RGCs are accessible via an injection into the eye, the goal is to treat FD patients with a single injection. The vector was developed in the laboratory of Dr. Frances Lefcort (Montana State University) where it was demonstrated that intravitreal injection of the vector into the eyes of an FD mouse model could significantly reduce the death of retinal ganglion cells.

“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.

The FDA Office of Orphan Products Development grants orphan drug designation to support the development of medicines for rare disorders that affect fewer than 200,000 people in the U.S. This designation represents a significant milestone and qualifies a company for several key benefits, including seven years of market exclusivity upon approval, tax credits for clinical trial costs, exemptions from certain FDA clinical trial fees and essential support in clinical trial design. These incentives enable companies to bring innovative treatments to market more efficiently, ultimately benefitting patients with rare diseases.

Companies awarded a rare pediatric disease designation may be eligible to receive a rare pediatric disease priority review voucher from FDA when the designated drug is approved for the associated indication in the pediatric population. The voucher can be redeemed to receive a priority review for any subsequent marketing application, or may be sold or transferred. This program is intended to encourage the development of new drugs for the treatment of rare pediatric diseases.

 

About Tikun Therapeutics Inc.
Tikun Therapeutics is wholly owned by the Familial Dysautonomia Foundation. The Familial Dysautonomia Foundation, Inc. was formed in 1951 by desperate parents searching for a way to help their children living with familial dysautonomia. Today, the Foundation works for the benefit of all people afflicted with FD by supporting medical care and scientific research, as well as conducting social service and public awareness programs. The Foundation continues to be the main source of funding for the world’s only FD treatment center in New York, as well as a key collaborator with clinics in Israel, while also providing access to vital medical care and equipment that alleviates the daily struggles of individuals living with this devastating disorder.

 

Contact

Tikun Therapeutics Inc.
c/o The Dysautonomia Foundation
315 W. 39th Street #701
New York, New York 10018
+1 212.279.1066
This email address is being protected from spambots. You need JavaScript enabled to view it. 
Tikun website: tikuntherapeutics.com 
FD Foundation website: Famdys.org

 

Keywords: Orphan Drug Designation; Rare Disease Designation; Rare Diseases; Dysautonomia, Familial; Optic Nerve Diseases; Genetic Therapy; North America; Tikun Therapeutics; FDA; Rare Pediatric Disease; Familial dysautonomia (FD); Gene replacement therapy; Small molecule splicing modulator; rAAV2-U1a-hELP1; Recombinant adeno-associated virus; Human ELP1 gene; Optic neuropathy; BPN-36964; Sensory and autonomic dysfunction; ELP1 gene mutation; Autosomal recessive disorder; Retinal ganglion cells (RGCs); Intravitreal injection; Neurodegeneration; Massachusetts General Hospital; Professor Susan Slaugenhaupt; Dr. Frances Lefcort; Montana State University; Adam Sachs; Familial Dysautonomia Foundation; Rare pediatric disease priority review voucher; Market exclusivity; Public Benefit Corporation (PBC); Progressive blindness; Balance disorder; Ultra rare disease; Biopharmaceutical development

Source: Biotech Newswire