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

Charcot-Marie-Tooth Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02979145
• Other study ID #: 6611
• Status: Recruiting
• Phase: N/A
• First received: November 29, 2016
• Last updated: November 29, 2016
• Start date: October 2016

Study information

• Verified date: November 2016
• Source: Sydney Children's Network
• Contact: n/a
• Is FDA regulated: No
• Health authority: Australia: Human Research Ethics CommitteeUnited Kingdom: Research Ethics CommitteeUnited States: Institutional Review BoardItaly: Ethics Committee
• Study type: Observational

Clinical Trial 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).

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 information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. primary completion date: December 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: N/A to 4 Years

Eligibility

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 Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• Charcot-Marie-Tooth Disease
• Hereditary Sensory and Motor Neuropathy
• Nerve Compression Syndromes
• Tooth Diseases

Intervention

Other:
• No intervention involved

Locations

Country	Name	City	State
Australia	The Children's Hospital at Westmead	Sydney	New South Wales
Italy	C. Besta Neurological Institute	Milan
United States	University of Iowa Health Care	Iowa City	Iowa
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (22)

Lead Sponsor

Collaborator

Sydney Children's Network

Besta Neurological Institute, Cedars-Sinai Medical Center, Children's Hospital of Philadelphia, Dubowitz Neuromuscular Centre, Harvard/Massachusetts General Hospital, Johns Hopkins University, National Hospital of Neurology and Neurosurgery, National Institutes of Health - Intramural Branch (Bethesda), Nemours Children's Hospital, Stanford University, Universiteit Antwerpen, University of Connecticut, University of Iowa Health Care, University of Miami, University of Michigan, University of Minnesota - Clinical and Translational Science Institute, University of Pennsylvania, University of Rochester, University of Utah, University of Washington, Vanderbilt University

Countries where clinical trial is conducted

United States,  Australia,  Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	CMT Infant Scale Part 1	The CMT Infant Scale physical assessment	1 year	No
Primary	The CMT Infant Scale Part 2	The CMT Infant Scale lower limb and gross motor items	1 year	No
Primary	The CMT Infant Scale Part 3	The CMT Infant Scale upper limb and fine motor items	1 year	No
Secondary	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	No

External Links

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