Clinical trial NCT01203085: Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
Official title: Development and Validation of CMT Pediatric Scale for Children With Charcot Marie Tooth
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Charcot Marie Tooth Disease
Lead sponsor: University of Iowa
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
name: Muscular Dystrophy Association
name: University of Rochester
name: Children's Hospital of Philadelphia
name: University College London Hospitals
name: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
name: Sydney Children's Hospitals Network
name: Nemours Children's Clinic
First posted: 2010-09-16
Enrollment: 500
Sex: ALL
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients who are 21 years of age and under who are also enrolled in the 6601 study and have performed all tasks to complete the CMT Peds Scale will be recruited for participation. Participation entails allow the information collected in the 6601 study be used for validation in the current study.

Brief summary: The primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.

Detailed description: This project is to develop a new CMT Pediatric Scale (CMTPeds) for Children with CMT. Although there is a validated score (the CMTNS) which measures disease severity for CMT, it is not always applicable to children due to their limited ability to relay information about their symptoms. The CMTPeds scale is being developed and validated in order to measure disease severity in children and have outcome measures available for future clinical trials. Children (defined as 21 and under) being evaluated will be asked to perform functional tasks such as using stairs, walking in a hallway, and performing hand function tests. This information will be used to validate the CMTPeds score. It is important to have validated instruments to measure disease severity in childhood so these can be used with clinical treatment trials are available.

Eligibility criteria: Inclusion Criteria:

All patients MUST be seen in person at one of the participating centers for enrollment in this study.

* Children (\< 21 years of age)
* Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4

Exclusion Criteria:

* Known diagnoses of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory \[acute inflammatory demyelinating polyradiculoneuropathy (AIDP) or chronic inflammatory demyelinating polyneuropathy (CIDP)\] polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy; and patients with severe general medical conditions.
* Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.

Primary outcomes:
measure: CMT Peds Scale Part 1: Symptoms
timeFrame: 1 year
measure: CMT Peds Score Part 2: Foot and Ankle Involvement
timeFrame: 1 year
measure: CMT Peds Scale Part 3: Hand dexterity
timeFrame: 1 year
measure: CMT Peds Scale Part 4: Hand strength
timeFrame: 1 year
measure: CMT Peds Scale Part 5: Foot Strength
timeFrame: 1 year
measure: CMT Peds Score Part 6: Sensation
timeFrame: 1 year
measure: CMT Peds Scale Part 7: Balance
timeFrame: 1 year
measure: CMT Peds Scale Part 8: Motor Function
timeFrame: 1 year
Secondary outcomes:
measure: Evaluate CMT Pediatric Scale (CMT Peds Scale) in CMT natural history study
timeFrame: 6 months to 1 year
Other outcomes:
Locations:
city: Palo Alto
country: United States
facility: Stanford University
state: California
city: Hartford
country: United States
facility: University of Connecticut/Connecticut Children's Medical Center
state: Connecticut
city: Orlando
country: United States
facility: Nemours Children's Clinic
state: Florida
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
city: Rochester
country: United States
facility: University of Rochester
state: New York
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Sydney
country: Australia
facility: Children's Hospital of Westmead
state: New South Wales
city: Milan
country: Italy
facility: C. Fondazione IRCCS Istituto Neurologico Carlo Besta
city: London
country: United Kingdom
facility: National Hospital of Neurology and Neurosurgery
state: England
city: London
country: United Kingdom
facility: Dubowitz Neuromuscular Centre
state: UK
Study officials:
affiliation: University of Iowa
name: Michael E Shy, MD
role: PRINCIPAL_INVESTIGATOR
References: