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

NCT02979145 | Unknown

• 1 other identifier: 6611
• Study Type: observational
• Target: 200
• Locations: 3 countries
• Sites: 4

Brief 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).

Conditions

Charcot-Marie-Tooth Disease

Outcome Measures

Primary Outcomes (3)

• 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 Outcomes (1)

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

  6 months - 1 year

Study Arms (2)

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

Interventions

No intervention involved OTHER

Controls; Patients with CMT

Eligibility Criteria

• Age: Up to 4 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

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

Study Sites (4)

University of Iowa Health Care

Iowa City, Iowa, 52242, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104-1771, United States

NOT YET RECRUITING

The Children's Hospital at Westmead

Sydney, New South Wales, 2145, Australia

RECRUITING

C. Besta Neurological Institute

Milan, 20133, Italy

RECRUITING

Related Links

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

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Allied Health (Paediatrics)

Study Record Dates

• First Submitted: November 29, 2016
• First Posted: December 1, 2016
• Study Start: October 1, 2016
• Primary Completion: December 1, 2017
• Last Updated: December 1, 2016

Record last verified: 2016-11

Locations

US (2); IT (1); AU (1)