Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

NCT02194010 | Completed

• 2 other identifiers: INC 6610U54NS065712
• Study Type: observational
• Target: 563
• Locations: 2 countries
• Sites: 3

Brief Summary

The 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).

Conditions

Charcot Marie Tooth Disease; Inherited Peripheral Neuropathy

Keywords

Outcome Measure; Patient Reported Questionnaires

Outcome Measures

Primary Outcomes (1)

• Disability Severity Index

  The DSI asks the subject to provide information about how disability is reflected in general by equipment required for mobility. Therefore, the DSI asks the subject if a person in general was wearing AFOs (braces) for mobility, what level of disability would that reflect using both a quantitative measurement of score and a verbal method of scoring (none, mild, moderate, severe). These questions do not apply to the participant themselves, just in general how disabled they believe a person to be based on the mobility assistive devices that that person requires. Then a research team member will complete the last page which specifically asks about what that subject is using for mobility.

  Approximately 30 minutes

Secondary Outcomes (1)

• Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

  Approximately 30 minutes

Study Arms (2)

Participants evaluated at INC sites

Participants being evaluated at the INC sites will participate in both the DSI and HMSN-R-ODS by completing these PROs during their visit.

INC Contact Registry

INC Contact Registry completes the HMSN-R-ODS on web http://rarediseasesnetwork.epi.usf.edu/INC/

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants enrolled in INC protocol 6601 and being seen at a participating site for an evaluation of CMT will be asked if they would like to participate in this protocol. The individuals being recruited will have already signed consent forms and be enrolled in 6601. They will be informed that it is completely voluntary to participate in this protocol, and they can still be enrolled in INC 6601 without participating in this project. Alternative participants who are registered with our INC Patient Registry will be alerted to the form through an email and asked to participate due to their diagnosis of suspected diagnosis of CMT.

You may qualify if:

• individual has an inherited peripheral neuropathy or is suspected to have an inherited peripheral neuropathy
• individual is 10-99 years of age
• individual signs consent or assent form depending on age and requirements
• individual is participating in INC 6601 at one of the participating sites OR is a participant on the INC Patient Registry

You may not qualify if:

• inability to provide informed consent
• outside of age range
• inability to complete questionnaire
• does not understand English
• is not participating in INC 6601 or on the INC Patient Registry

Sponsors & Collaborators

• University of Iowa: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator
• Charcot-Marie-Tooth Association: collaborator
• Muscular Dystrophy Association: collaborator
• University of Rochester: collaborator
• University of South Florida: collaborator

Study Sites (3)

University of Iowa

Iowa City, Iowa, 52242, United States

Location

University of Rochester Medical Center

Rochester, New York, 14627, United States

Location

National Hospital of Neurology and Neurosurgery

London, United Kingdom

Location

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease; Inherited Peripheral Neuropathy

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

• Michael E Shy, MD

  Universit of Iowa

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Neurology

Study Record Dates

• First Submitted: April 2, 2014
• First Posted: July 18, 2014
• Study Start: April 1, 2014
• Primary Completion: February 1, 2019
• Study Completion: February 1, 2019
• Last Updated: February 7, 2019

Record last verified: 2019-02

Locations

GB (1); US (2)