New Tools for Trials in Children with CMT

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New Tools for Trials in Children with CMT

http://quest.mda.org/news/new-tools-trials-children-cmt

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

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 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.