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

NCT ID: NCT02979145

Last Updated: 2016-12-01

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-10-31

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.

Conditions

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Charcot-Marie-Tooth Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No intervention involved

Intervention Type OTHER

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.

No intervention involved

Intervention Type OTHER

Interventions

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No intervention involved

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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)


* 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

* 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.
Maximum Eligible Age

4 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of Iowa

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

University of Pennsylvania

OTHER

Sponsor Role collaborator

University of Rochester

OTHER

Sponsor Role collaborator

National Hospital of Neurology and Neurosurgery

UNKNOWN

Sponsor Role collaborator

Dubowitz Neuromuscular Centre

OTHER

Sponsor Role collaborator

University of Miami

OTHER

Sponsor Role collaborator

Carlo Besta Neurological Institute

OTHER

Sponsor Role collaborator

Johns Hopkins University

OTHER

Sponsor Role collaborator

Vanderbilt University

OTHER

Sponsor Role collaborator

University of Washington

OTHER

Sponsor Role collaborator

Nemours Children's Hospital

OTHER

Sponsor Role collaborator

National Institutes of Health (NIH)

NIH

Sponsor Role collaborator

Stanford University

OTHER

Sponsor Role collaborator

Cedars-Sinai Medical Center

OTHER

Sponsor Role collaborator

Harvard/Massachusetts General Hospital

UNKNOWN

Sponsor Role collaborator

University of Michigan

OTHER

Sponsor Role collaborator

University of Minnesota

OTHER

Sponsor Role collaborator

University of Utah

OTHER

Sponsor Role collaborator

University of Connecticut

OTHER

Sponsor Role collaborator

Universiteit Antwerpen

OTHER

Sponsor Role collaborator

Sydney Children's Hospitals Network

OTHER

Sponsor Role lead

Responsible Party

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Joshua Burns

Professor of Allied Health (Paediatrics)

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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University of Iowa Health Care

Iowa City, Iowa, United States

Site Status RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status NOT_YET_RECRUITING

The Children's Hospital at Westmead

Sydney, New South Wales, Australia

Site Status RECRUITING

C. Besta Neurological Institute

Milan, , Italy

Site Status RECRUITING

Countries

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United States Australia Italy

Facility Contacts

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Shawna Feely, MS, CGC

Role: primary

Timothy Estilow, OT

Role: primary

Melissa Mandarakas, MPhty

Role: primary

Isabella Moroni

Role: primary

Related Links

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https://www.rarediseasesnetwork.org/cms/inc/6611

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

Other Identifiers

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6611

Identifier Type: -

Identifier Source: org_study_id