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

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

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).

Study Overview

• Status: Unknown
• Conditions: Charcot-Marie-Tooth Disease
• Intervention / Treatment: Other: No intervention involved

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.

• Study Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

Study Locations

• Australia
  • New South Wales
    • Sydney, New South Wales, Australia, 2145
      • Recruiting
      • The Children's Hospital at Westmead
      • Contact: Melissa Mandarakas, MPhty; Phone Number: +61 2 98451904; Email: melissa.mandarakas@sydney.edu.au
• Italy
  • Milan, Italy, 20133
    • Recruiting
    • C. Besta Neurological Institute
    • Contact: Isabella Moroni; Phone Number: +39-02 2394 3001; Email: isabella.moroni@istituto-besta.it
• United States
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • Recruiting
      • University of Iowa Health Care
      • Contact: Shawna Feely, MS, CGC; Phone Number: 319-353-8400; Email: Shawna-Feely@uiowa.edu
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104-1771
      • Not yet recruiting
      • Children's Hospital of Philadelphia
      • Contact: Timothy Estilow, OT; Email: ESTILOW@email.chop.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 4 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients who are 4 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMTInfant Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.

Description

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).

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with CMT; 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
Controls; 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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Sydney Children's Hospitals Network
• Collaborators: Johns Hopkins University; Children's Hospital of Philadelphia; University of Pennsylvania; University of Miami; University of Michigan; University of Iowa; National Institutes of Health (NIH); University of Washington; Vanderbilt University; Stanford University; University of Minnesota; Cedars-Sinai Medical Center; University of Utah; University of Rochester; University of Connecticut; Universiteit Antwerpen; Nemours Children's Hospital; Dubowitz Neuromuscular Centre; Carlo Besta Neurological Institute; National Hospital of Neurology and Neurosurgery; Harvard/Massachusetts General Hospital

Publications and helpful links

Helpful Links

• 6611: Charcot-Marie-Tooth disease Infant Scale Recruitment Website

Study record dates

Study Major Dates

• Study Start: October 1, 2016
• Primary Completion (Anticipated): December 1, 2017

Study Registration Dates

• First Submitted: November 29, 2016
• First Submitted That Met QC Criteria: November 29, 2016
• First Posted (Estimate): December 1, 2016

Study Record Updates

• Last Update Posted (Estimate): December 1, 2016
• Last Update Submitted That Met QC Criteria: November 29, 2016
• Last Verified: November 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Stomatognathic Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Tooth Diseases; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy
• Other Study ID Numbers: 6611