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

Sydney Children's Hospitals Network200 enrolled

Overview

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).

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.

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Charcot-Marie-Tooth Disease

Interventions

No intervention involvedOTHER

Eligibility

Sex: ALLMax age: 4 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria (patients with CMT): * Patient is ≤4 years of age * Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form. * Patient has known or probable inherited neuropathy * Patient participates in the INC Natural History Study (INC 6601) Inclusion Criteria (controls): * Participant is ≤4 years of age * Parent(s) or guardians have agreed for the child to take part in the study and have signed an informed consent form. * Participant does NOT have an inherited neuropathy as determined by the investigator * Participant is an unaffected friend or family member of a patient with CMT (patient does not have to be included in the study) Exclusion Criteria (patients with CMT): * Patient has a known condition of acquired neuropathy including toxic (e.g. medication related), metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) neuropathies, a neuropathy related to leukodystrophy, or a congenital muscular dystrophy. * Patient has a severe general medical condition, as determined by the site Principal Investigator. * Patient has known normal nerve conductions of upper and lower limbs. This will be considered as exclusion criteria because it documents that the child does not have a large-fibre neuropathy. However, patients will not be required to have nerve conduction studies (NCS) or electromyography (EMG).

Locations (4)

University of Iowa Health Care

Iowa City, Iowa, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

NOT_YET_RECRUITING

The Children's Hospital at Westmead

Sydney, New South Wales, Australia

RECRUITING

Outcomes

Primary Outcomes

CMT Infant Scale Part 1

The CMT Infant Scale physical assessment

Time frame: 1 year

The CMT Infant Scale Part 2

The CMT Infant Scale lower limb and gross motor items

Time frame: 1 year

The CMT Infant Scale Part 3

The CMT Infant Scale upper limb and fine motor items

Time frame: 1 year

Secondary Outcomes

Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study

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.

Time frame: 6 months - 1 year

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.