6610: Disability Severity Index (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Individuals with inherited peripheral neuropathies, also known as Charcot Marie Tooth disease (CMT), have a problem with the nerves that go from the spinal cord to the feet and hands which can cause muscle weakness. It can also cause individuals with CMT to not feel as much in their arms and legs because of the damage to the nerves. Because these nerves travel out to the edges (periphery) of the body these disorders are called peripheral neuropathies. In CMT these peripheral neuropathies are caused by mutations or alterations in our DNA genes, which means the disease can be passed from one generation to another (such as from parents to their children) within a family.
The purpose of this research study is to develop and validate two activity and functional scales (HMSN-R-ODS and DSI) for disability in patients with inherited neuropathies that are based on self-reported information from participants who have inherited neuropathies. These self-reported assessments (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 self-reported assessments available specifically for people who have CMT.
Participation in this study will occur both through participating INC clinical centers and the INC Contact Registry.
The research questions are:
- Determine how results from these questionnaires compare with the standard measures we use in the Inherited Neuropathies Consortium (INC) to measure impairment or disability caused by CMT.
- Determine whether HMSN-R-ODS questionnaire scores (this is the 146 question document) are similar in participants from the INC Contact Registry and participants from INC clinical centers for the same forms of CMT.
- Determine whether the HMSN-R-ODS questionnaire scores are similar when completed approximately a month apart by the same individuals.
- Calculate changes in the two scores over time to determine whether they can be used to measure disease progression over several years.
About this Study
This is an observational study. Approximately 415 people with CMT who are enrolled in the 'A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C' (INC 6601) will take part in this study conducted by investigators in the Inherited Neuropathies Consortium (INC). An additional 415 people will take part in this study electronically through the INC Contact Registry. Approximately 100 people will be asked to repeat the questionnaires 40 days after the initial completion in order for investigators to evaluate changes in responses over a short period of time.
The questionnaires in this study are considered Patient Reported Outcome (PRO) measures. These questionnaires are filled out by participants and do not involve an examination or treatment. The study questionnaires may range from 19 to 160 questions and focus on your ability to do a number of physical activities. The questionnaires include a series of questions which are meant to evaluate how CMT affects your ability to perform specific physical tasks and activities. There are questions about your overall physical health, physical activities, everyday activities, and which tasks or physical activities may be difficult for you. You can skip any question that you wish.
If you participate in this study at an INC clinical center:
During this study, you will be asked during your clinic visit to complete two questionnaires (HMSN-R-ODS and DSI) about your physical abilities. Each year for up to 5 years, you may be asked to complete these questionnaires again. You may also be asked to complete one of the questionnaires again approximately 40 days after first completing it. You may be asked to complete the questionnaire during your clinic visit or you may be asked to complete the questionnaire at home and then return it to the clinic in a self-addressed and stamped envelope. If the completed questionnaire is not received, you or your parent may receive a reminder phone call 6-8 weeks after your clinic visit. This will be the only follow-up call you will receive about mailing in your questionnaire. Study investigators will also look at the information you have provided as a part of the protocol 'A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C' (INC Protocol # 6601).
If you participate in this study online through the INC Contact Registry:
Individuals enrolled in the INC Contact Registry will receive an email invitation to complete an online questionnaire (HMSN-R-ODS) about your physical abilities. Each year for up to 5 years, you may be asked to complete the questionnaire again. You may also be asked to the questionnaire again approximately 40 days after first completing it. We will send you reminder emails to help you remember to complete the questionnaire.
To be eligible to participate, you must be an individual with one of the following:
- Have an inherited peripheral neuropathy.
- Sign an informed consent or assent form (depending on local ethics committee requirements).
- Be age 10 years old or older.
- Be also participating in A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C' (INC Protocol # 6601) (if you want to participate in this study through your INC clinical center)
- Be a member of the INC Contact Registry (if you want to participate in this study through the INC Contact Registry).
You are not eligible to participate if:
- Are unable to provide informed consent.
- Are unable to complete the questionnaire(s).
- Do not understand English.