As published in a press release by the Hereditary Neuropathy Foundation, a project funded by the National Institutes of Health (NIH), researchers at the University of Rochester, the University of Pennsylvania, and the University of Iowa are recruiting people with type 1A Charcot-Marie-Tooth disease (CMT) to analyze various methods to measure the progression of the disease.  They’ll be finding how effective their current methods and tools are in order to create better studies for clinical trials.

Charcot-Marie-Tooth disease (CMT) is a rare neurological condition, caused by an inherited gene mutation. This causes damage to the peripheral nerves that gradually affects motor and sensory nerves with symptoms like difficulty with fine motor skills, weakness of the foot or leg, lower leg and foot deformities like high arches, weakness in hands, and difficulty walking. There are various therapies and medical devices to hope patients cope with the severe symptoms, but there is no cure.

The current study, funded by the NIH, will study patients across the world in an international collaboration to find how useful the current method is in determining the treatments efficacy. In order to find thorough results, they are recruiting more patients between the ages of 18 and 75 with CMT1A.

Participants will undergo a series of exams and questionnaires to assess their health situation. This includes periodic visits once or twice a year for up to three years, which will be financially compensated by the researchers including travel reimbursements and an honorarium.

The researchers are seeking to measure the progression of the disease by assessing the strength and sensation of symptoms. The patients will be directly surveyed on how the disease impacts them via two questionnaires known as the CMT Health Index and the Overall Neuropathy Limitation Scale (ONLS). They will have their ability to move and balance assessed using the CMT Functional Outcome Measure (CMT-FOM) which tests walking, standing up, and hand movements. They will additionally test nerves in an arm, leg, and other peripheral nerves.

If you are a CMT1A patient interested in taking part in the study, contact for the University of Rochester site with Steffen Behrens-Spraggins at (585) 275-5760 or by email. To take part at the site at the University of Iowa, contact Alexa Bacha at (319) 467-5006 or by email.