Sheffield Institute for
Translational Neuroscience


Accelerating the development of treatments for Charcot-Marie-Tooth Disease

Acetylon Pharmaceuticals, Inc., joins the long-standing collaboration between SITraN researcher Dr Andy Grierson and the Hereditary Neuropathy Foundation (HNF). The aim of the collaboration is to develop treatments for Charcot-Marie-Tooth disease (CMT), the most common inherited disorder of the peripheral nervous system which affects close to 3 million people worldwide. Acetylon, a leader in the development of selective histone deacetylase (HDAC) inhibitors for the treatment of cancer and other critical human diseases, will provide a therapeutic compound that will be tested in a preclinical zebrafish model of CMT developed by Dr Grierson at the University of Sheffield for its potential in the treatment of CMT.

P1080757.JPGDr Grierson’s drug screening research for CMT is supported by the Hereditary Neuropathy Foundation (HNF) as part of their Therapeutic Research In Accelerated Discovery (TRIAD) programme, which fosters collaboration among academics, government and industry to accelerate potential treatments for CMT. The zebrafish model of CMT2A, developed by Dr Grierson, at the Bateson Centre is used as a platform to test therapeutic compounds that may lead to potential treatments for people affected by CMT2A, the second most common form of CMT.

Dr Grierson said “The zebrafish model offers a unique opportunity for preclinical testing in CMT2A, the most common form of axonal CMT. With support from HNF we have refined and validated this model. Through this new partnership we will discover whether HDAC6 inhibition is a viable therapeutic approach”.

Charcot-Marie-Tooth (CMT) is a progressive disease. Early signs include high arched feet, curled toes, and claw-like hands. Many of these signs begin subtly and may go undiagnosed for years, leading to legs and arms becoming deformed and difficult to use. Severe, chronic pain is common, and there is no cure. To date, over 80 mutated genes associated with CMT have been identified, with more being discovered each year. The most common form of CMT is CMT1A, for which a treatment is currently being tested in a Phase 3 clinical trial. CMT2A, caused by a mutation in MFN2, is the second most common form of CMT.

The Hereditary Neuropathy Foundation (HNF) is a non-profit organization whose mission is to increase awareness and accurate diagnosis of Charcot-Marie-Tooth disease (CMT) and related inherited neuropathies. The charity supports patients and families with critical information to improve quality of life, and supports research that will lead to treatments and cures.

“HNF recognizes the sense of urgency to get treatments to patients and families as quickly as possible”, said Sean Ekins, Chief Science Officer of HNF. “Whenever possible, we try to connect companies with researchers who are pushing the envelope to find potential treatments for CMT. Whether it is a focus on drug development, high throughput screens with FDA approved drugs, or novel compounds that could lead to new targets, we are constantly searching for ways to help accelerate this process.”  

HNF and partner organization Hannah’s Hope Fund co-sponsor the Global Registry for Inherited Neuropathies (GRIN) to collect clinical and genetic information on patients diagnosed with the various forms of inherited neuropathies in order to advance therapy development for these debilitating disorders. To join the patient registry, visit For further information, visit

About Acetylon

Acetylon Pharmaceuticals, Inc., based in Boston, Massachusetts, is a leader in the development of novel small molecule drugs targeting epigenetic mechanisms for the enhancement of therapeutic outcomes in cancer and other critical human diseases. The Company’s epigenetic drug discovery platform has yielded a proprietary portfolio of optimized, orally-administered Class I and Class II histone deacetylase (HDAC) selective compounds. Alteration of HDAC regulation through selective HDAC inhibition is thought to be applicable to a broad range of diseases including cancer, sickle cell disease and beta-thalassemia, and autoimmune and neurodegenerative diseases. Acetylon’s lead drug candidate, ricolinostat (ACY-1215), is a selective HDAC6 inhibitor currently in Phase 2 clinical development for the treatment of multiple myeloma. In 2013, the Company announced a strategic collaboration agreement with Celgene Corporation, which includes an exclusive option for the future acquisition of Acetylon by Celgene. Acetylon’s scientific founders are affiliated with Harvard University, the Dana-Farber Cancer Institute, the Massachusetts General Hospital, and Harvard Medical School.