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A new type of Charcot-Marie-Tooth (CMT) has recently been identified caused by mutations in the SORD gene. This is likely the most common recessive type of CMT; and the best part is that drugs are likely available that have been developed, in principle, for diabetic peripheral neuropathy.

Under the leadership of Dr. Stephan Züchner, a world renowned geneticist and neurologist at the University of Miami, one of HNFs Center of Excellence along with his team, including Drs. Andrea Cortese, Grace Zhai, and Adriana Rebelo have made the groundbreaking discovery. This study was substantially supported by the Inherited Neuropathies Consortium led by Dr. Michael Shy at the University of Iowa. He and other Researchers think that at least 3,000 – 5,000 people in the United States—and more than 60,000 worldwide—have this type of CMT.

Dr. Züchner’s research has shown that drugs approved for other diseases that target this SORD gene may show promise as a viable treatment for CMT. If so, it would be possible to accelerate the clinical trial timeline and skip straight to Phase 2 since the drugs have already gone through Phase 1 testing for other diseases and indications.

HNF is also supporting the development of a SORD rat model for testing the new drugs for additional validation studies prior to human trials. These efforts are well under way and we will keep you posted as the project develops. 

“We are so excited for Dr. Züchner’s discovery and the potential of a therapy that we are supporting the collaboration by funding the development of a SORD rat model to support more research to validate these drugs prior to human trials.” – Allison Moore, CEO of HNF

“This remarkable discovery has been possible because of CMT patients participating in our genetic studies, ” said Dr. Züchner. “For the next phase we are committed to offering free SORD gene testing to screen undiagnosed CMT patients in the hopes of more patients receiving a confirmed CMT diagnosis as well as identifying more patients in preparation of clinical trials.”

If you are interested in participating, please reach out at [email protected] org and join the patient registry, Global Registry for Inherited Neuropathies (GRIN). The criteria for screening are:

1) you have received a diagnosis of CMT, but genetic testing did not reveal with certainty the responsible gene; 

2) your parents never had CMT symptoms and 

3) you may have a sibling also affected with CMT symptoms.

 

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