NT-3 Levels and Function in Individuals With CMT

NCT05011006 | Not Yet Recruiting

• 1 other identifier: 19-0353
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

This study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.

Conditions

Charcot-Marie-Tooth Disease; Peripheral Neuropathy; Chronic Inflammatory Demyelinating Polyneuropathy

Keywords

NT-3; CMT1A; Neuropathy

Outcome Measures

Primary Outcomes (9)

• Assess change in Manual Muscle Testing (MMT)

  Weakness in the major motor groups can be documented by using manual muscle testing. This exam allows the symmetry of strength, along with distribution and degree of weakness to be assessed. The Medical Research Council lists the major motor groups as: neck flexion, hip extension, knee flexion, ankle plantar flexion, and hip abduction. Depending on the clinical circumstances, the exam can be individualized. The Medical Research Council provides a scale ranging from 0-5. Inter-rater reliability will be documented by all evaluators of the trial. A rating of 5 indicates full range of motion, whereas a rating of 0 indicates no movement.

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in 100 Meter Timed Test (100m):

  Directions for study procedures will be provided in a way the subject can understand (i.e. verbal and/or written instruction, demonstration, practice, etc.). Once the subject is comfortable with study procedures, they will complete the 100m test one time. Patients will be asked to run a set course of 25 meters for 4 laps for a total distance of 100 meters. The time to complete in seconds will be recorded.

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in Timed Functional Testing:

  Timed Functional Testing can include time to ascend/descend 4 standard-sized stairs, time to rise from the floor (from NSAD), and the 10-meter run (from the NSAD).

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in PROMIS Upper Extremity Function and Mobility Scales:

  The PROMIS Upper Extremity Function and Mobility instruments are patient-reported outcomes (PRO) that utilize a patient reported and/or parent proxy scale based on the patient's age that measures an individual's perceived upper extremity function and mobility.

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in Abilities Captured Through Interactive Video Evaluation (ACTIVE)

  ACTIVE is a video game that utilizes the Microsoft Kinect camera to measure functional reaching volume while the patient is motivated to squish spiders or collect gems.

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in CMT Pediatric Scale (CMTPedS)

  The CMTPedS is a clinician-administered scale that rates patient performance on various functional activities involving the upper extremities, lower extremities, balance, and gait. The CMTPedS generates a linear score of disability ranging from 0 (not affected) to 44 (severely affected).

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in Timed Up and Go

  The Timed Up and Go test (TUG) is a simple test used to assess a person's mobility and requires both static and dynamic balance. It uses the time that a person takes to rise from a chair, walk three meters, turn around, walk back to the chair, and sit down.

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in Forced Vital Capacity

  Forced expiratory volume (FEV) measures how much air a person can exhale during a forced breath. Forced vital capacity (FVC) is the total amount of air exhaled during the FEV test.

  Compare baseline to Year 1 and Year 2 visits.

• Assess change in Exploratory Gait Evaluation

  We may attempt to quantify gait using vibration sensors, activity monitors, or a portable walkway providing temporal spatial gait analysis.

  Compare baseline to Year 1 and Year 2 visits.

Interventions

NT3 blood draw DIAGNOSTIC_TEST

blood draw

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Male and female subjects, from 7 years of age and over with a definitive diagnosis of acquired peripheral neuropathy or genetically determined CMT neuropathy

You may qualify if:

• Males or females from 7 years of age or older
• Diagnosis of acquired peripheral neuropathy (PN) such as due to diabetes, chemo-induced, autoimmune chronic inflammatory demyelinating polyneuropathy (CIDP) established by a report of electrical studies or with a known genetic CMT diagnosis. Definitive diagnosis of PN is established with a report of electrical studies, EMG/nerve conduction studies.2
• Perform assessments to the best of their ability with reliable results as deemed by the evaluator.
• Ability to attend scheduled appointments
• Ability to provide informed consent (or assent for ages 9-18)

You may not qualify if:

• Current pregnancy per medical history
• Has a medical condition or extenuating circumstances that, in the opinion of the investigator, might compromise the subject's wellbeing, safety, or clinical interpretability

Sponsors & Collaborators

• Zarife Sahenk: lead

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease; Peripheral Nervous System Diseases; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Polyradiculoneuropathy; Autoimmune Diseases of the Nervous System; Demyelinating Diseases; Autoimmune Diseases; Immune System Diseases; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Zarife Sahenk, MD., PhD.

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Dawn Scott, RN

CONTACT

614722-2715; Dawn.Scott@nationwidechildrens.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: March 4, 2020
• First Posted: August 18, 2021
• Study Start (Estimated): November 13, 2027
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): June 1, 2030
• Last Updated: June 24, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)