Dr. Jodi Wolff, who is known for her expertise on the disease and her patient advocacy work, will represent Santhera on the council. She is the company’s director of patient advocacy and medical science liaison.
The council promotes collaboration with industry and helps the foundation pursue key initiatives.
Its members work with the foundation on “key priorities within the three pillars of the Mitochondrial Disease Roadmap, consisting of: diagnosis, therapeutic development and patient care,” Charles A. Mohan Jr., the foundation’s chief executive officer, said in a press release. “We are excited to have Santhera participate. Their valuable insight and advice will help guide us in developing faster non-invasive diagnostics and potential therapies for mitochondrial patients as well as develop a model for enhanced patient care. We look forward to the continuation of our productive and mutually beneficial working relationship.”
Raxone (idebenone) treats Leber’s hereditary optic neuropathy (LHON), more commonly known as mitochondrial eye disease. Raxone is a synthetic short-chain benzoquinone and a co-factor for the enzyme NAD(P)H: quinone oxidoreductase (NQO1).
The European Union granted Santhera authorization to market Raxone for adults and adolescents in September 2015. It was the first time treatment Europe had approved a treatment mitochondrial eye disease.
The U.S. Food and Drug Administration has yet to approve the therapy. The European Union is also looking at Raxone as a possible treatment for Duchenne muscular dystrophy.
LHON is a genetic disease that causes blindness. It is most common in young men, usually starting in the teens or early 20s. The disease is characterized by a sudden loss of vision in one eye. It often spreads to the other eye, resulting in total blindness.
Mitochondrial eye disease is caused by DNA mutations in cell structures known as mitochondria. Because they convert food to energy, scientists have dubbed mitochondria the cell’s powerhouses.
Mitochondrial defects lead to less energy production and an increase in molecules that can damage the body. One of results can be loss of sight.