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STUDIES

This site is dedicated to the families and friends of people effected by Emery-Dreifuss Muscular Dystrophy. We want to build a global community to promote supportive communication and education for families, as well as tools to communicate and educate the medical community. Find us on Facebook and our Forum and connect with other families with or effected by EDMD.

GENETIC STUDY FOR EMERY-DREIFUSS MUSCULAR DYSTROPHY


Dr. Peter Kang is conducting a study on the genetic origins of various muscular dystrophies, including Emery-Dreifuss muscular dystrophy, and is open to enrolling subjects at the University of Florida College of Medicine.  


Participation will involve sharing medical records with the study team, as well as selected and optional donation of tissue samples.  Blood and urine samples may be collected for the study, but the only muscle tissues to be collected will be samples already obtained as part of a clinical muscle biopsy.  


Information discovered during the study cannot directly be reported to subjects and clinical care is not involved in the study, but genetic findings may be shared with clinical diagnostic laboratories to facilitate clinical confirmation of potentially relevant results.  


For more information, please contact:

Dr. Peter Kang at pbkang@ufl.edu or 352-273-8921.

EDMD REGISTRY

Investigators at Columbia University have established an online Registry for patients with EDMD. The Registry will enable the research team to answer questions about the disease, such as:


What is the natural course of the disease?

What are the different variations caused by mutations in the EDMD linked genes?

What process and metrics should be incorporated to track quality of patient care?

Does a treatment lead to long term benefits or harm, including delayed complications?


In addition, the Registry will allow the researchers to contact patients

and in the event of clinical progress or relevant clinical research studies.

If you or a family member has EDMD, or mutation in a linked gene

without symptoms, you or family member may join the Registry.

Click here to join or access the Registry: https://www.sac-cu.org/EDMD


Why are studies important?

Studies help doctors, researchers, pharmaceutical companies and patients understand why a condition does what it does to our bodies. Without medical studies we would not know how to treat a broken bone, or the common cold.

What is a medical study?

A medical study is when a researcher collects information from patients who are afflicted with the disease they are studying, in our case EDMD. There are several types of studies that would be of interest to us and we would benefit greatly from participating in. One such study is a genetic study.


Genetic studies allow researchers to collect genetic information from those diagnosed with EDMD. Why is this important? Well if we don’t know every gene that comes up as “mutated” in patients with EDMD then how can we diagnose future patients? And that is not the only important question to answer. What if one gene that creates the condition of EDMD turns out to be the same gene that creates another, well studied, disease? Genetically speaking that may mean that any medical advances in the well studied disease would also be able to be applied to the patients with the same gene mutation. Or perhaps the research being done on the other disease can be used as a base for research for us. You never want to put limits on advancements that can be shared among diseases and knowing is the first step to sharing in that research and medical advancements.


Another type of study, one which I think our group would appreciate having, is what is called a follow study. A follow study is one where medical professionals follow a patient or several patients over years of their life. They are given medical records, test results, can see changes in the progression of the disease and can see what happens to a person over the course of years. Why is this important? Well consider this, if you go to your doctor now with a rash from poison ivy what is your expectation after discussing the treatment plan with your doctor? You may expect them to say, apply an anti-itch ointment and don’s scratch the rash. Why do they tell you these two things? The first, to apply the anti-itch ointment is because they know that these types of rashes will itch. The second? It is because they know that scratching the rash will release the poison from your skin and spread the rash to whatever other part of your body you touch next. How do you think they know this information though? It is because they watched patients with poison ivy rashes and recorded what they saw.  A follow study can bring a wealth of information to a medical professional and provide peace of mind to any one of us that is diagnosed with EDMD.


I know that when my son was first diagnosed his first and most persistent question is “what will happen to me in 5 years?” The doctors now have one consistent answer to this question and it is “we don’t know”. They can make a guess based on what anecdotal evidence they may have or based on other forms of Muscular Dystrophy but the fact is that they simply do not have enough recorded medical information to answer this question for any of us.


With each form of EDMD and the new forms being discovered the process of a follow study is of great importance to our community.


It is our sincere hope that you participate fully in each study we bring to you. All studies are brought to you with the drive and compassion of a mother trying to find a cure, and as a patient myself, as someone searching for the same answers as the rest of our community.

Scroll down to see our current studies!

EMOTIONAL IMPACT STUDY FOR MUSCULAR DYSTROPHY  INCLUDING EMERY-DREIFUSS



You are invited to participate in a research study examining the social and emotional aspects of living with Muscular Dystrophy as a young adult. This is a qualitative investigation that will require between 2 to 5 hours of your time.


The researcher is recruiting individuals with Muscular Dystrophy who meet the following criteria:

are between the ages of 18 and 29

physical symptoms become noticeable after age 9 (termed Juvenile Onset)

living with a slowly progressive form of the disease such as Limb Girdle, Distal, Becker’s, Facioscapulohumeral and Emery-Dreifuss (not the Duchenne or Congenital forms)

have been diagnosed with Muscular Dystrophy for at least one year prior to participation


The study commitment:

Two 60-90 minute interviews within 2 weeks

Interviews will be audio recorded and take place over the phone or in person

All information will be kept confidential and identifying information (e.g., name, where you live) will be changed in the final publication

You will be asked questions about being diagnosed with muscular dystrophy, and how it has affected your life socially and emotionally, how you cope, and what services might be helpful to you

You will be asked to review the first interview transcript to ensure its accuracy


Your participation in this study is completely voluntary, and you can withdraw at any time without penalty or loss of benefits to which you are otherwise entitled. Your participation (or lack thereof) will not influence services provided through the Muscular Dystrophy Association.

This research is being conducted to fulfill requirements for the degree of PhD in Counselor Education and Supervision at Kent State University Graduate School of Education, Health and Human Services in Kent, Ohio.


If you have questions or are interested in participating, please contact Kelsey Jager at kgeorge1@kent.edu or text/call (440) 554-4668.


This project has been approved by the Kent State University Institutional Review Board (approval number 16-297). If you have any questions about your rights as a research participant or complaints about the research, you may call the IRB at (330) 672-2704.

Thank you for your time, and I look forward to hearing from you!