Hearing and Balance Disorders in Peripheral Neuropathy

NCT05827419 | Terminated

• 1 other identifier: TM001
• Study Type: observational
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

The long term goal of this proposal is to precisely characterize the auditory and vestibular abilities of children with Charcot-Marie-Tooth (CMT) and how these abilities evolve during the progression of the disorder. This information will be used to refine the management methods for hearing loss and vestibular disorders in these patients. Given that the phenotypic severity is variable within the CMT patient population, we predict that not all CMT patients will present with auditory and vestibular dysfunction. We will therefore collect specimens (i.e., buccal swabs and saliva) from study participants so that their DNA can be isolated and used to determine the genetic basis for auditory and vestibular dysfunction in peripheral neuropathies.

Conditions

Charcot-Marie-Tooth Disease

Outcome Measures

Primary Outcomes (3)

• Prevalence of auditory disorders in children diagnosed with Charcot-Marie-Tooth Characteristics.

  We will evaluate how many children with CMT have present hearing loss. The presence of hearing loss will be based on the results of the following tests (passed or failed): otoacoustic emissions, auditory brainstem responses, auditory event related potentials, audiometry and speech perception

  2 years

• Prevalence of vestibular disorders in children diagnosed with Charcot-Marie-Tooth

  We will evaluate how many children with CMT have present vestibular disorder. The presence of vestibular disorder will be based on the results of the following test (passed or failed): video head impulse test

  2 years

• Progression of hearing loss

  We will follow subjects longitudinally to evaluate the progression of hearing loss. The degree of hearing loss will be monitor over time to evaluate if changes are noticed. All tests listed in Outcome 1 will be repeated and compared to initial values to define the presence or absence of changes in the degree of hearing loss.

  2 years

Eligibility Criteria

• Age: 5 Years - 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Children and young adults between the ages of 5 and 21 years diagnosed with Charcot-Marie-Tooth will be included.

You may qualify if:

• Individuals diagnosed with Charcot-Marie Tooth

Sponsors & Collaborators

• Nemours Children's Clinic: lead

Study Sites (1)

Nemours

Wilmington, Delaware, 19803, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Saliva and buccal swabs

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 Officials

• Thierry Morlet, PhD

  Nemours

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 25, 2018
• First Posted: April 25, 2023
• Study Start: June 1, 2018
• Primary Completion: March 10, 2023
• Study Completion: March 10, 2023
• Last Updated: April 25, 2023

Record last verified: 2018-10

Locations

US (1)