Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease

CoQ10 is an integral part of the electron transport chain in the mitochondria, or the energy
production centers of cells. Within recent years, there has been expanding interest in the
potential benefits of CoQ10 supplementation on a variety of neuromuscular diseases, some of
which involve mitochondrial dysfunction, such as CMT. Daily supplementation may have
cytoprotective and neuroprotective properties, which may improve symptoms of weakness,
fatigue, and pain, as well as increase quality of life (QOL) among persons with CMT.

With regards to within group comparisons we hypothesize that daily supplementation of CoQ10
taken as a 300 milligram wafer twice a day for 3 months will produce a statistically
significant reduction in weakness, fatigue, and pain, along with a significant improvement in
QOL as indicated from scores in both standardized physiological and scale measures.

The addition of serum level analysis will help to contextualize clinical results. We
hypothesize the ratios of the oxidized and reduced forms of CoQ10 will be modified upon
supplementation.

Inclusion Criteria:

- Subjects must have a diagnosis of CMT, confirmed by review of medical records by the
study physician

- Subjects can be of either gender

- Subjects must be between the ages of 18 and 75

- Subjects must be able to complete all assessments at the designated time intervals

- Subjects must review and sign the informed consent statement according to Conemaugh
Memorial Medical Center's (CMMC) Institutional Review Board (IRB) guidelines

- Subjects must receive approval from their primary care physician (PCP) to enroll in
the study

- Regarding weakness, fatigue, and pain, subjects must experience at least two of the
three symptoms on most days over the past month

- Regarding weakness, fatigue, and pain, subjects must report experiencing maximum
levels of >/= 3.0 centimeters (cm) on the 10 cm visual analog scale (VAS) for any two
of the three symptoms over the past month

- Female subjects must be willing to practice stable birth control during involvement in
the study

- Subjects must agree to be randomized

Exclusion Criteria:

- Subjects having another general medical condition, which might confound the assessment
of weakness, fatigue, and pain due to CMT

- Subjects taking warfarin or Coumadin

- Subjects who are pregnant, verified by a urine pregnancy test*

- Subjects having a cognitive impairment scoring < 20 on the Mini-Mental State Exam

- Subjects who are currently using CoQ10 supplementation or have used it in the past 6
months

- Subjects with a history of chronic liver disease or other condition causing
malabsorption

- Drug intake that could modify lipid absorption (such as statins)

- Subjects who consume >3 alcoholic drinks per day on more than one occasion per month

- Subjects with abnormal liver function tests as defined through a Hepatic -Function
Panel or a Liver Function Panel

- Women of childbearing age who have had at least one menstrual cycle within the
past 12 months and who have not undergone a sterilization procedure will undergo
a urine pregnancy test at visits 1-10 regardless of group assignment in order to
maintain the single blind. The urine samples will be processed at CMMC's lab