New Tools for Trials in Children with CMT

Two new pediatric scales measuring physical functioning and quality of life are good news for future clinical trials in Charcot-Marie-Tooth

Neurologist Michael Shy and a young CMT patient
Article Highlights:
  • Investigators have developed two new scales for use in clinical trials in children and teenagers with Charcot-Marie-Tooth (CMT) disease.
  • One scale measures physical functioning, and the other measures quality of life.
  • These scales, developed with MDA support, are expected to speed the testing of new treatments for pediatric CMT.

 

by Margaret Wahl on April 23, 2010 - 9:59am

Two scales that can be used to assess disease progression and any response that may occur to a treatment have been developed for children with Charcot-Marie-Tooth (CMT) disease.

One, called the CMT Pediatric Scale, measures physical functioning. The second, called the Pediatric CMT Quality of Life Instrument, measures how the disease affects children's life experience. The two scales eventually will be merged, the investigators say.

Both new measurement instruments were presented April 14, at the 2010 American Academy of Neurology meeting held in Toronto, and both were developed with MDA support.

About the CMT Pediatric Scale

Richard Finkel, a professor of pediatrics at the University of Pennsylvania and co-director of the MDA clinic at Children's Hospital of Philadelphia, presented the CMT Pediatric Scale.

He developed the scale with MDA grantee Michael Shy, a professor of neurology and a member of the Center for Molecular Medicine and Genetics at Wayne State University in Detroit, and others in the United States, United Kingdom, Italy and Australia.

The CMT Neuropathy Scale, a measurement tool for adults with CMT, has been found useful in following the disease course and in clinical trials. Until now, however, there's been a need for accurate outcome measures for children and adolescents with CMT, Finkel said.

The CMT Pediatric Scale includes assessments of foot posture, hand dexterity, sensation, motor function, ankle positioning, hand and foot strength, balance and endurance.

Preliminary data from 20 children ages 3-17 years old suggest it can be completed in 30 to 45 minutes. The tool is undergoing further evaluation and is expected to have broad application in clinical trials in young people with CMT.

About the Quality of Life instrument

Sindhu Ramchandren, a neuromuscular disease specialist in the Department of Neurology at Wayne State, presented the Pediatric CMT Quality of Life instrument, developed in the United States and Australia.

This instrument includes a 60-item questionnaire that can be administered to children with CMT who are 5-18 years old, and two questionnaires for their parents, one for parents of children up to age 5 and the other for parents of children ages 5-18.

The questionnaires cover six major areas that the investigators concluded were relevant to the child with CMT:

  • physical symptoms, such as pain, cramps and fatigue;
  • physical functioning, including fine motor control and balance;
  • social functioning, such as playing with peers;
  • how they believe others perceive their cognitive functioning (since children with CMT are sometimes mistakenly judged to be cognitively impaired because of their physical impairments);
  • emotional distress; and
  • emotional bonding with peers and adults.

The CMT Quality of Life instrument, when combined with the CMT Pediatric Scale, expand the ways in which investigators can measure the effects of treatments they will test in children with CMT.

Meaning for families with CMT

The emergence of specific scales that measure physical functioning and overall quality of life in children and adolescents with CMT is an important step in treatment development for this disease.

When experimental drugs and biologics, such as gene therapy, are developed and tested, regulatory agencies require very careful documentation of their effects. Good functional and quality-of-life scales can pick up even subtle treatment effects, both good and bad, as well as differences in the effects of dosage levels and other variables.

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