MCHS is Myocyte Enhancer Factor 2 Haploinsufficiency Syndrome

The MEF2C gene is a dominant gene, meaning both copies need to be working to produce enough MEF2C protein for normal function. MEF2C Haploinsufficiency Syndrome (MCHS) occurs when one of the copies is mutated or deleted, impairing its function. This can result in the production of only half of the required MEF2C.

We are finding that there are many different types of MEF2C mutations out there. It is our goal to fund research and development that will lead to treatments and a cure for all MEF2C mutations. At this time we have a population of approximately 400 patients globally, with nearly half of our patients in the United States.

The natural history study will assist in the examination of the different types of mutations within our patient group and to understand how this will affect treatment options.

MCHS presents a broad range of symptoms including:

• Global Developmental Delay

• Severely Impaired or Absent Language

• Profound Learning Difficulties

• Epilepsy (seizures)

• Severe Hypotonia

• Stereotypical & Repetitive Movements

• Sleeping Difficulties

• Feeding Difficulties

MCHS is considered a severe form of Autism Spectrum Disorder (ASD).

There are no MEF2C targeted therapeutics currently available; and therefore we must invest in extensive research and development to find treatments and a cure. 

Learn more about this critical research and the ongoing path to therapy development for MCHS: