7401: North American Mitochondrial Disease Consortium Patient Registry and Biorepository
- All mitochondrial diseases (suspected or confirmed)
Mitochondrial diseases are caused by dysfunction of the mitochondria, which are specialized compartments that are present in every cell of the body except red blood cells. Mitochondria generate more than 90% of the energy that the body needs to sustain life and support growth. When they fail, less and less energy is generated within the cell. This injures the cell and can cause its death. If this process is repeated throughout the body, whole organ systems begin to fail, and the life of the person in whom this is happening is severely compromised. Mitochondrial diseases primarily affect children, but adult onset is becoming more and more common.
Mitochondrial diseases are probably the most diverse human disorders at every level: clinical, biochemical, and genetic. Some affect only the nervous system but most affect many body systems, including the brain, heart, liver, skeletal muscles, kidney, and the endocrine and respiratory systems. Although mitochondrial disorders vary in severity, they are usually progressive, and often crippling. They can cause paralysis, seizures, mental retardation, dementia, hearing loss, blindness, weakness and premature death.
Because of the range of symptoms and the frequent involvement of multiple body systems, mitochondrial diseases can be a great challenge to diagnose. Even when accurately diagnosed, they pose an even more formidable challenge to treat, as there are very few therapies and most are only partially effective.
About this Study
The first objective of this study is to establish a clinical registry of patients with suspected or confirmed mitochondrial diseases. We are collecting medical and family history, diagnostic test results, and prospective medical information for these patients and, using agreed procedures developed by the leading research clinicians in the field, providing, for the first time, standardized diagnoses of these complex disorders for the patients. The clinical information we collect from the participants will be used to learn about the spectrum of mitochondrial disorders and their prevalence. We will also develop studies which allow us to better understand how these diseases progress, which we do not understand well enough. When we begin clinical trials for mitochondrial diseases, patients enrolled in the registry who are identified as potentially eligible will be offered enrollment. Patients will only be included in studies if they give their consent in advance.
The second objective of this study is to establish a biorepository for specimens and DNA from patients with mitochondrial diseases, in order to make materials easily available to consortium researchers.
This study does not involve study visits or any medical procedures or tests. It uses information already in your medical records. Your participation involves consenting to have this medical information included in the clinical patient registry. You may chose to participate in the registry alone, or to have your specimens included in the biorepository.
If you participate in the clinical patient registry, you will have a conversation with a NAMDC doctor or other researcher about the study and you will be asked to sign consent and privacy forms. You will then have a brief interview about your medical history, diagnosis, and family history. You may be asked to complete a few brief forms describing your illness. Any additional medical information that is needed will be collected from your doctor. If your doctor is one of the NAMDC doctors, he or she may collect information for the study during your regular visits. In the future, NAMDC will continue to collect medical information about you.
All participants in the clinical patient registry will receive a certified NAMDC research diagnosis. This will be sent to any medical professionals you indicate; or you may opt to keep it private. All information in the NAMDC registry will be private unless you give express permission for researchers who are conducting studies to contact you.
If you participate in the biorepository, in general, no new specimens will be collected other than what your doctor requires for your care. In some cases, you may be asked to give a DNA sample through saliva or cheek cells. Your specimen and genetic materials may be used in mitochondrial disease research.
- To be eligible to participate, you must have or be suspected of having a mitochondrial disease.
- Patients of all ages are eligible; children between 7 and 17 years of age who are capable of understanding a basic explanation of the study will be asked to assent to being included. Patients will be expected to travel to study sites for annual evaluations.
- Deceased mitochondrial disease patients are eligible.
How to participate
In order to participate, you may:
- Enroll in the RDCRN Contact Registry. A NAMDC researcher will contact you. ( *Note that enrolling in the RDCRN contact registry is not the same as enrolling in the NAMDC clinical patient registry.)
- Contact the NAMDC central coordinator:
Columbia University, New York, NY
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.