People with CMT2C to share daily disease burden with FDA

The U.S. Food and Drug Administration (FDA) will hear directly from people living with Charcot-Marie-Tooth disease type 2C (CMT2C) during an upcoming virtual meeting organized by the Charcot-Marie-Tooth Association (CMTA).

The 90-minute patient listening session, scheduled for Oct. 20, will give patients, caregivers, and medical experts an opportunity to describe what it is like to live with CMT2C.  Topics typically discussed include which symptoms are more challenging, how the disease changes over time, and what improvements would be meaningful to patients.

The FDA then uses feedback from these meetings to inform regulatory decisions and public education efforts. Because CMT2C is so rare and research is limited, the agency has less evidence than usual to guide its decisions. According to the CMTA, this is why perspectives from the CMT2C community are essential.

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The CMT2C session will bring together people with the disease at different stages of life, from a young child to adults.

Charcot-Marie-Tooth disease is a group of inherited disorders that affect the peripheral nerves, which carry signals between the brain and spinal cord and the rest of the body. CMT2C, also called TRPV4-associated CMT, is caused by mutations in the TRPV4 gene. In addition to the typical CMT symptoms, people with CMT2C may experience hearing loss, vocal cord damage, voice changes, and weakness of the diaphragm, a key muscle for breathing. The CMTA estimates that CMT2C affects about 2,500 people in the U.S.

The CMTA also announced last month that it is investing $110,500 in a partnership with La Jolla Labs to develop an antisense oligonucleotide (ASO) treatment for CMT2A, the most common form of CMT2. The project pairs the CMT expertise of John Svaren, PhD, board chair of the CMTA Strategy to Accelerate Research (CMTA-STAR) Advisory Board, with La Jolla Labs’ expertise in developing ASO-based medicines.

CMT2A is caused by mutations in the MFN2 gene. Researchers are exploring whether increasing production of a related protein, mitofusin 1 (MFN1), could compensate for the damaging effects of faulty MFN2. The planned ASO treatment is designed to increase MFN1 expression in nerve cells, helping them produce more MFN1 protein.

“We are excited to apply our mission and expertise to CMT and look forward to fostering collaboration with the CMT research community to identify potential therapeutics for CMT2A patients,” Tamar Grossman, PhD, CEO of La Jolla Labs, said in the CMTA press release.

“The published science tells us this strategy can work for CMT2A, and La Jolla Labs brings exactly the expertise needed to develop it,” said Katherine Forsey, PhD, CMTA’s chief research officer. “Targeted genetic approaches such as this are a key part of CMTA’s research strategy.”