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

Study Overview
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Brief Summary
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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
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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.

Official Title
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Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT

Conditions
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Charcot-Marie-Tooth Disease

Intervention / Treatment
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* Other: No intervention involved


Participation Criteria
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Eligibility Criteria
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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).

Ages Eligible for Study
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Maximum Age: 4 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with CMT<br>Two groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms. | Other: No intervention involved<br> <br> |
| Controls<br>Healthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-≤4 years without a diagnosis of CMT or any of the other study exclusion criteria. | Other: No intervention involved<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| CMT Infant Scale Part 1 | The CMT Infant Scale physical assessment | 1 year | 
| The CMT Infant Scale Part 2 | The CMT Infant Scale lower limb and gross motor items | 1 year | 
| The CMT Infant Scale Part 3 | The CMT Infant Scale upper limb and fine motor items | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 6 months - 1 year |