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

• ClinicalTrials.gov Identifier: NCT02194010
• Recruitment Status: Completed
• First Posted: July 18, 2014
• Last Update Posted: February 7, 2019
• Sponsor: University of Iowa
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS); Charcot-Marie-Tooth Association; Muscular Dystrophy Association; University of Rochester; University of South Florida
• Information provided by (Responsible Party): Michael Shy, University of Iowa

Tracking Information

• First Submitted Date: April 2, 2014
• First Posted Date: July 18, 2014
• Last Update Posted Date: February 7, 2019
• Study Start Date: April 2014
• Actual Primary Completion Date: February 2019 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: July 16, 2014)

Disability Severity Index [ Time Frame: Approximately 30 minutes ]

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.

• Original Primary Outcome Measures: Same as current

Current Secondary Outcome Measures (submitted: July 16, 2014)

Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS) [ Time Frame: Approximately 30 minutes ]

The HMSN-R-ODS is a functional score about the subject asking about their daily activities and overall health. Questions are grouped in various sections and include: Changing and holding body positions; walking and movement; movement by transport; carrying, moving, or handling objects; self-care; household activities and duties; taking care (daily tasks) - general; meeting other people; work, study, and hobbies. These questions relate specifically to the subject and ask how they can perform these various activities with little to severe difficulty.

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
• Official Title: Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
• 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).

Detailed Description

Charcot Marie Tooth Disease (CMT) is a group of disorders that cause a peripheral neuropathy, impairing the long nerves that go to the feet and hands. Due to the problems with the peripheral nerves, people with CMT have muscle weakness and sensory loss that impairs their physical abilities. CMT affects approximately 1 in 2500 people and is caused my mutations in over 70 different genes. Models exist for many sub-types of CMT that have led to an increased understanding of the biological basis for these disorders. These advances have also made rational therapies for CMT a realistic possibility. However, clinical trials have been limited in CMT by a combination of lack of natural history data for many subtypes, a lack of outcome measures that can detect change in a short period for slowly progressive forms of CMT, and a lack of outcome measures for young children with CMT.

In order to develop treatments based on the biological advances in the inherited neuropathies, it is necessary to have measured the natural history of the various disorders. It is only by knowing the natural history that one understands the onset of clinical symptoms, the rate of progression, and the ultimate prognosis of these diseases. For these reasons, the INC has dedicated much of its effort to develop sensitive outcome instruments, including PRO tools, to measure the natural history of CMT. It is the investigators goal to establish such an instrument for overall impairment for use in both natural history analysis and clinical trials. To develop and validate this instrument, the investigators will be asking people who have CMT to complete two questionnaires, the DSI and the HMSN-R-ODS. These relate to overall symptom impairment due to CMT. These instruments may be used to help us understand the overall progression of CMT and will ultimately help with clinical trials when they are available for the various forms of CMT.

• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• 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.

Condition

• Charcot Marie Tooth Disease
• Inherited Peripheral Neuropathy

• Intervention: Not Provided

Study Groups/Cohorts

• 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/

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: February 6, 2019): 563
• Original Estimated Enrollment (submitted: July 16, 2014): 415
• Actual Study Completion Date: February 2019
• Actual Primary Completion Date: February 2019 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 10 Years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: United Kingdom, United States

Administrative Information

• NCT Number: NCT02194010
• Other Study ID Numbers: INC 6610; U54NS065712 ( U.S. NIH Grant/Contract )
• Has Data Monitoring Committee: No
• U.S. FDA-regulated Product: Not Provided
• IPD Sharing Statement: Not Provided
• Responsible Party: Michael Shy, University of Iowa
• Study Sponsor: University of Iowa

Collaborators

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

Investigators

• Principal Investigator: Michael E Shy, MD; Universit of Iowa

• PRS Account: University of Iowa
• Verification Date: February 2019