Hearing and Balance Disorders in Peripheral Neuropathy
Charcot-Marie-Tooth DiseaseThe 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.
A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
Charcot-Marie-Tooth DiseaseHereditary Motor and Sensory Neuropathy IVCharcot-Marie-Tooth 4J (CMT4J) is a rare inherited peripheral neuropathy often characterized by rapidly progressive, asymmetrical upper and lower extremity weakness, muscle atrophy leading to loss of ambulation, respiratory compromise and premature death with no available treatment. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with CMT4J. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale...
Charcot Marie Tooth DiseaseInherited Peripheral NeuropathyThe purpose of this research study is to create and validate two patient reported outcome (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in patients with inherited neuropathies. These questionnaires ask questions about what participants think disability is for themselves or others with inherited neuropathies. These questionnaires are a useful tool when evaluating whether treatments are working in the day to day life of an individual, although there are currently no questionnaires available specifically for people who have Charcot Marie Tooth disease (CMT).
Survey of Current Management of Orthopaedic Complications in CMT Patients
Charcot-Marie-Tooth DiseaseCharcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications in CMT patients and orthopaedic surgery is often required. As yet there are no systematic studies on the management of orthopaedic complications in CMT patients and the current approach varies between centres. This study is a survey with the aim of understanding the current surgical approach to orthopaedic complications in CMT. The target population includes orthopaedic surgeons who perform surgical procedures for foot deformities in CMT patients attending centres participating in the Inherited Neuropathies Consortium (INC).
Follow up and Observation of Charcot Marie Tooth Disease in Families
Charcot-Marie-Tooth DiseaseThe study is aimed to test the hypothesis that there is anticipation in CMT
The Cortical Shield for Facial Bone Reconstruction
Tooth LossTooth Diseases6 moreTo evaluate a novel technique of bone regeneration and simultaneous implant placement in severely damaged sockets.
Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With...
Charcot-Marie-Tooth Type 1A NeuropathyThis exploratory cross-sectional study proposes, firstly, to objectify in a population of Charcot-Marie-Tooth disease type 1A (CMT 1A)if there is a correlation between the recording of electrical parameters and upper limb muscle strength of the thigh and in a second step, to seek a relationship between the measured parameters.
An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients...
Charcot Marie Tooth Disease (CMT)Hereditary Sensory and Motor Neuropathy7 moreThe purpose of this study is to identify the issues that have greatest impact on QOL for patients with Charcot Marie Tooth (CMT) Disease. Patients who have -registered in the Inherited Neuropathies Consortium Contact Registry will be invited to participate.
A Study of Osseotite Certain Prevail Implants Used to Support Short Fixed Bridges With Immediate...
Partial EdentulismTooth DiseaseThis prospective, multicenter study evaluates the performance of the Osseotite Prevail implant when to support a short fixed bridge with immediate occlusal loading, providing the patient with the use of a temporary prosthesis until the final prosthesis is made. Study (null) hypothesis: This is an observational study in which no concurrent control group will be observed. Results of the study will be compared with the performance of other Osseotite implants from published Osseotite multicenter studies.
Development and Validation of a Disability Severity Index for CMT
Charcot Marie Tooth DiseaseIt is necessary for outcome measures to accurately reflect the state of health of a person in order for clinical trials to show benefit. The most commonly used outcome measure for Charcot Marie Tooth Disease (CMT) is the CMT Neuropathy Score, which uses cutoffs of points designated as mild (0-10 points), moderate (11-20) or severe (21-36). These terms are arbitrary. This study is looking to base mild, moderate, and severe on what both people affected with CMT and those who provide for people with CMT consider appropriate.