UR Medicine / Neurology / Our Divisions / Neuromuscular Disease Center / Multidisciplinary Clinics / Charcot Marie Tooth Clinic / Research

Research Studies

How do I learn more about current open studies?

Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study.

How do I participate in a study?

Each study listed below is enrolling currently at the University of Rochester Medical Center. If you are interested in enrolling or learning more about the studies below please contact Janet Sowden, research coordinator, by phone at (585) 275-1267 or by email at janet_sowden@urmc.rochester.edu.

Studies for Patients

6601: Natural History Evaluation of Charcot Marie Tooth Disease

6602: Genetics of CMT- Modifiers of CMT1A, New Causes of CMT2

6603: Development of CMT Peds Scale for Children with CMT

6610: Disability Severity Index (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

Clinical Studies

6601: Natural History Evaluation of Charcot Marie Tooth Disease

Status: Recruiting

Study Summary

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.

Background

Charcot Marie Tooth disease (CMT) is an umbrella term that covers any inherited peripheral neuropathy. People with CMT have a problem with the nerves that go to the feet and hands that cause muscle and sensation loss, as well as difficulty with balance. There are at least forty genes that, when mutated, cause CMT. The purpose of this study is to look at the natural history of CMT to see how it changes over time. Particular emphasis will be put on studying people with CMT1B, CMT2A, CMT4A, and CMT4C, though all people with CMT are encouraged to participate. Participants are invited back on a yearly basis to determine how the changes are occurring.

About this Study

This is a longitudinal study of individuals with CMT. Those participating in this study will be invited to be re-evaluated every year. There is no cap on the number of participants who can enroll – all people who meet the inclusion criteria are encouraged to participate.

There are many parts to a clinic visit for this study. At the first visit, you will be assessed for eligibility, be provided informed consent, have minimal demographics taken, and a treatment history.
At each visit, we will also assess your medications and take a medical history. You will be asked to:

Have a neurological examination
Have nerve conduction studies performed
Take a questionnaire regarding your feelings about your health

Targeted Enrollment

To be eligible to participate, you must:

Have Charcot Marie Tooth disease (CMT)

You are not eligible to participate if:

You have a peripheral neuropathy caused by a different source (i.e. alcohol, chemotherapy, diabetes, etc.)
The site investigator does not think it is appropriate for you to participate.

6602: Genetics of Charcot Marie Tooth Disease

Status: Recruiting

Study Summary

Background

CMT1A
All people with CMT1A have the same duplication of the PMP22 gene. However, the symptoms that a person with CMT1A experiences can range from mild to severe. We are looking at the DNA and impairment of 1000 people to see if we can find other genetic causes that modify their CMT1A symptoms.

CMT
While many of the genes that cause CMT when mutated have been discovered, there are still many types of CMT for which the genetic cause is unknown. We are looking at small families who have forms of CMT that have not been identified by genetic testing to see if we can find the cause for their CMT.

The research questions are:

Are their genes that influence the symptoms of CMT1A?
Can we identify new causes of CMT using small families with an unknown cause to their CMT?

About this Study

This is a study where we are collecting DNA from subjects once. We are looking to collect DNA and clinical information (as part of study 6601) on 1000 patients with CMT1A. You may be enrolled in study 6601 for an extended period of time, but the involvement for this study (6602) is a one time event. For small families (about 3 people) with unidentified forms of CMT, we will be enrolling 20 families. This is also a one time event. Enrollment includes entry into study 6601, and agreement to take part in 6602. For this study, we require a blood draw, where three tubes of blood will be taken.

Targeted Enrollment

To be eligible to participate, you must:

For the CMT1A Gene Modifier Study:

Have genetically confirmed CMT1A, or have a first or second degree family member who has genetically confirmed CMT1A and have nerve conduction velocities in the demyelinating range

For the New Causes of CMT Project:

You have a neuropathy on nerve conduction studies or a clinically diagnosed genetic neuropathy

AND

You or a first or second degree family member have had negative genetic testing for MFN2 if you have an axonal form of CMT (nerve conductions greater than 38 m/s in the arms), or negative genetic testing for PMP22 duplication, deletion, sequencing, MPZ, and GJB1 if a demyelinating form of CMT is present (<38 m/s)

AND

More than one additional family member is also willing to participate. One family member must be at least a second degree relative of one of the other participants (grandparent, uncle, aunt, niece, nephew, or half-sibling). Only one family member can be a first degree relative (parent, child, sibling).
- Participation involves the other family members also agreeing to participate, enrolling in study 6601 – Natural History Evaluation of Charcot Marie Tooth disease, and provided a blood sample for DNA extraction

You are not eligible to participate if:

You have a known neuropathy from a non-genetic source, such as chemotherapies, diabetes, or alcohol
For the New Causes of CMT study, only full families of at least 3 people who match the inclusion criteria will be eligible.
For the New Causes of CMT study, if a known genetic cause of the CMT in the family has been found, that family is not eligible.

6603: Development of CMT Peds Scale for Children with CMT

Status: Recruiting

Study Summary

Background

Information about how different forms of CMT affect children is not readily available because there are not good methods to measure impairment of children with CMT. The purpose of this project is to develop and test such a method and to then test this scale to ensure that it is an effective measurement of impairment of CMT in children, that the children tolerate it well, that different investigators using this method obtain similar results and that changes over time with the scale allow measurement of progression of CMT in the children.
The 3 research aims are:

To develop and test a specific pediatric CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials for different types of CMT. The evaluation is not invasive and involves activities such as running, jumping, balancing and puzzle activities. Currently the CMTPeds evaluation takes about a half hour.
We propose to evaluate younger children (<3 yrs of age) with the Brief Assessment of Motor Function (BAMF) assessment
We propose to test the sensitivity of the CMT Peds Scale to detect any changes in impairment due to CMT by evaluating children by the score over a two year period
To determine how relevant changes are that we measure in the CMTPeds scale to the children we wish to compare changes in the CMTPeds scale with an additional brief scale that assesses childhood quality of life (Children’s Quality of Life scale CHQ-PF50.)

About this Study

This is a longitudinal study of 500 children (<21 yrs of age) with various forms of CMT, divided into CMT1, CMT2, and CMT4. Patients will be seen for a total of 4 times at six month intervals. The evaluations will take place at one of the INC RDCRC sites that have specialized pediatric neurology expertise. Those include Wayne State University, the Children’s Hospital of Philadelphia (CHOP), the Dubowitz Neuromuscular Center (London) and The Children’s Hospital of Westmead (Australia). For each visit the child will be asked to complete either the BAMF or CMTPeds scale as well as the quality of life scale (with parent participation).

Targeted Enrollment

To be eligible to participate, you must:

Be an individual with one of the following:

Children (<21 years of age)
Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4.

You are not eligible to participate if:

Known diagnosis of acquired neuropathy including toxic (e. g. medication related
neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory
(AIDP or CIDP) polyneuropathies; neuropathy related to leukodystrophy,
congenital muscular dystrophy
Patients with severe general medical conditions.
Entirely normal conduction velocities of upper and lower limbs as this suggests that
the subject may not have a neuropathy.
Asymptomatic children not previously diagnosed as having CMT1, CMT2, or
CMT4.

6610: Disability Severity Index (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)

Status: Recruiting

Study Summary

Background

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.

Targeted Enrollment

To be eligible to participate, you must:

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 protocol INC 6601 (if you want to participate in this study through your INC clinical center)

OR
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 you:

Are unable to provide informed consent.
Are unable to complete the questionnaire(s).
Do not understand English.

How to participate

In order to participate in a study, you must personally contact the research coordinator Janet Sowden by phone (585) 275-1267 or by e-mail at janet_sowden@urmc.rochester.edu.

Join the Contact Registry for: Charcot Marie Tooth disease (CMT) to receive updates on future research.