Charcot Marie Tooth DiseaseDSI and HMSNNCT02194010
Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
An observational study of Charcot Marie Tooth Disease and Inherited Peripheral Neuropathy, run by University of Iowa at 3 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Charcot Marie Tooth Disease, Inherited Peripheral Neuropathy
- How many people
- 563 participants
- Where
- 3 sitesin 2 countries
- Study dates
- Apr 2014to Feb 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
United States2 sites
University of Iowa
Iowa City, Iowa, 52242
University of Rochester Medical Center
Rochester, New York, 14627
United Kingdom1 site
National Hospital of Neurology and Neurosurgery
London
About this study
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).
Read the 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.
- Keywords
- Outcome Measure, Patient Reported Questionnaires
- Medical subject headings
- Charcot-Marie-Tooth Disease, Inherited Peripheral Neuropathy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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/ |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Approximately 30 minutes
Secondary outcomes (1)
Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
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.
Measured: Approximately 30 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jul 2014 (estimated)
- Study startApr 2014
- Primary completionFeb 2019
- Study completionFeb 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot Marie Tooth DiseaseStudies of the same condition, open and under way.
- More trials run by University of IowaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 563 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Iowa
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Charcot-Marie-Tooth Association, Muscular Dystrophy Association, University of Rochester, University of South Florida
- Responsible party
- Principal investigator, Michael Shy, University of Iowa
- Investigators
- Michael E Shy, MD, Principal investigator, Universit of Iowa
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02194010
- Sponsor's protocol ID
- INC 6610
- Other IDs
- U54NS065712
- Acronym
- DSI and HMSN
- Status last verified
- Feb 2019
- First submitted
- 2 Apr 2014
- Last updated
- 7 Feb 2019
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Feb 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
- ClinicalTrials.gov ID
- NCT02194010
- Acronym / sponsor ID
- DSI and HMSN / INC 6610
- Keywords
- Outcome Measure, Patient Reported Questionnaires
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 563 participants (actual)
- Lead sponsor
- University of IowaUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Charcot-Marie-Tooth Association, Muscular Dystrophy Association, University of Rochester, University of South Florida
- Study start
- Apr 2014
- Primary completion
- Feb 2019 (actual)
- Study completion
- Feb 2019 (actual)
- First posted
- 18 Jul 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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/ |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
Time frame: Approximately 30 minutes
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Feb 2019.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michael E Shy, MD principal investigator
Universit of Iowa
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot Marie Tooth Disease and Inherited Peripheral Neuropathy, run by University of Iowa at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 Feb 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disability Severity Index (time frame: Approximately 30 minutes). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Feb 2019; AzTrials last refreshed its copy on 7 Nov 2026.