Clinical Trials and Studies November-December 2005

Article Highlights:
by Margaret Wahl on November 1, 2005 - 2:14pm

QUEST Vol. 12, No. 6

In this article: News research items about CMT1A, FSHMD, myasthenia gravis, SMA, and life satisfaction with disability

Neurotrophin 3 improved sensation in CMT1A

A pilot study of eight people with type 1A Charcot-Marie-Tooth (CMT) disease, a disorder in which signals in the peripheral nervous system are impaired, has found that treatment with neurotrophin 3 (NT3) improved sensory function and nerve regeneration.

Zarife Sahenk
Zarife Sahenk

Neurologist Zarife Sahenk at the Columbus Children’s Research Institute Neuromuscular Program at Ohio State University led the MDA-funded study team. Jerry Mendell, a neurologist and MDA clinic co-director at OSU Hospitals, was also an investigator.

NT3 is a natural neurotrophic (nerve-nourishing) factor.

The investigators, who published their findings online July 6 in Neurology, studied people with a form of CMT that results from an abnormally duplicated PMP22 gene on chromosome 17.

In CMT1A, the function of the PMP22 protein, which normally contributes to an insulating sheath that covers nerves running between muscles and the spinal cord (peripheral nerves), is disrupted, impairing sensory and motor signals.

After establishing that NT3 was apparently effective in mice with PMP22 defects, the research team gave four adults with CMT1A injections of NT3 three times a week for six months. The other subjects received a placebo.

At the end of the study, the placebo group’s scores on a standardized scale of neuropathy-related impairment had worsened, while scores in the treated group had improved.

There were no significant changes in specific sensory or motor tests in the placebo group at six months, but the NT3 group showed improved vibratory sensation assessed by a tuning fork test. Their reflexes also improved. Motor function didn’t improve in either group.

Biopsies of the sural nerve, located in the calf, showed some regeneration of the nerve tissue in the NT3-treated participants.

“We hope that this approach with neurotrophic agents can be applied to peripheral neuropathies, where there are few treatment options,” Sahenk said.

Pregnancy and delivery to be studied in FSHD

Investigators at the University of Rochester (N.Y.) Medical Center are seeking 200 women with facioscapulohumeral muscular dystrophy (FSHD) who are at least 18 years old to participate in a questionnaire-based study to better understand pregnancy and delivery in this disorder.

The questionnaire, which takes about 30 minutes to complete, asks about pregnancy, genetic counseling, fertility, FSHD and other medical issues. Participants are also asked to release obstetrical/gynecological and neurological medical records to the investigators.

URMC is the site of a Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, co-funded by MDA and the National Institutes of Health.

For information, contact Alexis Smirnow in Rochester at (585) 275-4715 or

CellCept being tested in myasthenia gravis

Two multicenter clinical trials are under way to test mycophenolate mofetil (brand name CellCept) in adults with myasthenia gravis (MG). CellCept was developed in the 1990s and is marketed by Roche Pharmaceuticals to reduce the immune response to transplanted organs. This unwanted immune response bears some similarity to the immunologic attack on muscle cells in MG.

For details, see Enter “CellCept” and “myasthenia gravis” into the search box.

SMA researchers need pre-trial patient data

Infant with SMA
Three forms of spinal muscular atrophy can show symptoms in infancy

Researchers who are part of the Pediatric Neuromuscular Clinical Research Network (see are seeking 270 people with types 1, 2 or 3 spinal muscular atrophy (SMA) whose disorder was diagnosed before age 19, for a study to gather data necessary for a future clinical trial.

Participating centers are in Boston, New York and Philadelphia, and several visits to these centers are necessary. Participants will undergo physical exams, lab tests and biopsies.

Contact Jessica Rascoll at (212) 342-5767 or for more information.

Life satisfaction with disability probed

Graduate student Roy Chen at Michigan State University in East Lansing is investigating the relationship between self-acceptance of a disability and life satisfaction. Chen, who has muscular dystrophy, is seeking people who are at least 18 years old, have a progressive neuromuscular disorder, and are willing to fill out a questionnaire online or in hard copy format.

The online survey can be found at For more information or a hard copy of the survey, contact Chen at (517) 355-8091 or

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