The CMT North American Database
Since its inception, the CMTA has had a deep commitment to promoting research that would lead to better diagnosis, treatment, and eventually a cure for Charcot-Marie-Tooth. Before we can move forward to improved treatments and a cure, however we must have a better understanding of CMT.
The CMT North American Database project was initiated to help us do just this. We consider it so important that we have already contributed $184,000 to its development and maintenance, and it remains one of our funding priorities.
We hope you will take the time to read about the database, and, if you qualify for inclusion, we hope you will take the time and effort to enroll and contribute your data.
What is the CMT North American Database?
The database is a standardized collection of data about a large number of people with all types of CMT. It will include detailed information about their medical, genetic and family histories.
Why is a CMT Database needed?
CMT is a complex and still not fully understood disease. At present, there is no standardized protocol for diagnosing and evaluating CMT patients, and most physicians usually see only small numbers of patients, so people are evaluated using different criteria.
The problem is even greater for research scientists, who do not usually evaluate patients. They depend on descriptions of others to determine the range of disability caused by the different types and sub-types of CMT. They also need reliable information about this disease from a large number of people.
The primary goal of having a central repository of standardized information on CMT patients is to provide qualified researchers with detailed information about large numbers of uniformly evaluated patients, thus giving them a more accurate picture of the range of disability caused by all forms of CMT.
The potential of such a database is enormous. It will…
- Allow people throughout North America, many of whom do not live near research centers, to participate in a major CMT research project without leaving their homes.
- Provide researchers studying the types of CMT where the gene defect is known access to large numbers of uniformly evaluated patients, and aid them in learning the clinical effects of particular genes and how they vary in different people.
- Help researchers trying to identify mutations causing CMT, in which the genetic cause is not yet known, by providing reliable patient information on large numbers of candidate patients. Having this information in the database would help to identify these genes faster.
- Determine the frequency of the type and range of disability of the disease when new genetic forms of CMT are identified.
- Present researchers with a better understanding of the normal progress of the disease in people's lives. This will aid in the development of treatments. It is possible that certain treatments may be more helpful when they are given at a certain time in a person's life, or at a certain levels of disability. Knowing the normal progress of the disease would help to determine how successful a treatment might be.
- Place at their disposal a large number of carefully evaluated patients who could be involved in clinical trials when drugs become available. Some treatments may work for one type of CMT but not for another. Large numbers of patients will be needed to determine the effects of treatments on all types of CMT.
- Lastly, researchers in Europe and Australia are beginning to put together databases for patients. This will allow us to work with our international colleagues, and patients in the North American database will be able to be compared to other people throughout the world.
The following are just a few of the questions that a broad, reliable database can answer:
- What are the effects of various medications on people with CMT?
- What are the effects of pregnancy on CMT? Although many women with CMT have no problems during pregnancy, some do see a worsening of their symptoms. Exactly how many women have problems and what other factors contribute to the problems is not known. Information on women will help to answer these questions.
- What is the effectiveness of various surgeries on people with CMT? What are the long-term effects? Are there common problems that occur?
- What are the effects of different types of rehabilitation (physical therapy, occupational therapy, foot and ankle braces) on CMT? Are there ways of preventing problems such as foot and hand deformities?
- What are the effects of anesthesia on people with CMT?
All of these questions require information about large numbers of people with CMT, and can only be answered by using the information gleaned from a reliable database.
About the Database
Eligibility. The database will contain clinical, genetic, and family history on patients in North America with CMT. All patients must give explicit permission to have their information entered in the database, and people with all types of CMT are eligible for inclusion. However, it is extremely helpful if patients have had their diagnoses confirmed by genetic testing. The database is currently being administered by the CMT Group at Wayne State University (WSU) in Detroit, Michigan. All forms should be sent to WSU and the staff there is available to answer any questions you may have.
Confidentiality. In all respects, confidentiality about patients and their families will be strictly maintained. Although administered by the CMT Group at WSU, the actual database is stored in the department of Medical and Molecular Genetics at Indiana University in Indianapolis, Indiana. The group at Indiana has many years of experience in maintaining very large databases, and they have a state of the art security system with many safeguards in place to maintain patient confidentiality.
Release of Information. Although the groups at WSU and Indiana University are involved with running and storing the database, neither group can determine whether researchers are qualified to have access to database information. An Independent Review Board of physicians (IRB) must approve all studies using information from the database. If a study is approved that seeks to analyze information already collected, the data provided will have no identifying information and all patient records will remain anonymous. Some researchers may, however, request identifying information to in order to follow up with patients or seek their participation in a study. In this case, staff from Indiana University will contact the patients in order to obtain their consent. In no case will identifying information be released without a patient's prior written consent. (Click here for more detailed information on the access and use of the database by researchers.)
This project is meant to aid all researchers invesigating the cause and treatment of CMT, and we hope you will participate if eligible. Thank you. Click here for information on how to enroll.
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