Dr. Reilly and UK Vitamin C for CMT1A Grant

[Guest guest]

http://www.muscular-dystrophy.org/research/grants/charcotmarieto.html

Group/Researcher: Dr M Reilly

Value of Grant: Year 1 - £71,939 (USA equivalent $138,954.59)

Charcot Marie Tooth (CMT), also called Hereditary Motor and Sensory

Neuropathy, is the commonest inherited disorder of nerves and

muscles affecting 1 in 2500 in the UK. The condition is caused by a

defect in the peripheral nerves and therefore impacts upon the

movement and feeling in the arms and legs.

CMT type 1A is the commonest form of CMT accounting for 60-90% of

individuals with CMT. It is caused by a duplication of part of

chromosome 17 involving the gene that codes for a protein

called " peripheral myelin protein 22 " (PMP22). This duplication

means that affected individuals have an extra copy of this gene and

thus produce the protein in excessive amounts. PMP22 is part of the

myelin sheath - the coat around nerve fibres that acts as an

insulator. Currently, it is not fully understood why having more of

this protein causes CMT1A. There is currently no cure for CMT and

possible treatments can only address the symptoms of the disease.

A recent study in an animal model of CMT1A has demonstrated that

treatment with ascorbic acid (AA, commonly known as vitamin C)

improved the condition. As vitamin C is freely available and is

safe, it is very important to test whether it has the same effect in

humans with CMT1A.

Dr Reilly is conducting a placebo-controlled clinical trial to

assess whether vitamin C is helpful as a treatment for CMT1A in

humans. The trial will last 2 years and during this time half the

participants will receive vitamin C daily and the other half will

receive a placebo - an inactive tablet that looks and tastes the

same as vitamin C. The trial will also be double blinded which means

that neither the doctor nor the individual with CMT1A knows who is

receiving vitamin C and who has the placebo. During this time all

participants will be closely monitored and assessed every six months

using measurement scales specifically designed for CMT to compare

individuals taking vitamin C with those taking placebo. This trial

is part of a larger, international, multi-centre trial that is also

ongoing in Italy. Combining the data will allow a more accurate

interpretation of the results.

If the outcome of this trial is positive, and vitamin C can be shown

to improve symptoms of CMT1A, then an effective and low-cost therapy

will be available for this common neuromuscular disease.