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Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)

Conditions
Charcot-Marie-Tooth Disease
Registration Number
NCT02979145
Lead Sponsor
Sydney Children's Hospitals Network
Brief Summary

The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).

Detailed Description

Most forms of CMT begin in childhood and progress throughout a person's lifetime. Current research suggests that treatment to slow disease progression may be most effective if introduced early in a patient's life before muscle weakness and sensation loss develop, as it may be easier to slow disease progression than to reverse disability that is already in place. Clinical outcome measures have been developed for adults (CMT Neuropathy Score) and for children 3 years of age and older (CMT Pediatric Scale). However, no CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. It is the goal of this study to develop and validate the CMT Infant Scale (CMTInfS) to meet this need.

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
200
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
CMT Infant Scale Part 11 year

The CMT Infant Scale physical assessment

The CMT Infant Scale Part 21 year

The CMT Infant Scale lower limb and gross motor items

The CMT Infant Scale Part 31 year

The CMT Infant Scale upper limb and fine motor items

Secondary Outcome Measures
NameTimeMethod
Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study6 months - 1 year

The sections of the CMT Infant Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all infant patients every 6 months to one year.

Trial Locations

Locations (4)

University of Iowa Health Care

🇺🇸

Iowa City, Iowa, United States

Children's Hospital of Philadelphia

🇺🇸

Philadelphia, Pennsylvania, United States

The Children's Hospital at Westmead

🇦🇺

Sydney, New South Wales, Australia

C. Besta Neurological Institute

🇮🇹

Milan, Italy

University of Iowa Health Care
🇺🇸Iowa City, Iowa, United States

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