Summary
For Diseases:
- All mitochondrial diseases (suspected or confirmed)
*Enrolling in the NAMDC clinical patient registry is not the same as enrolling in the RDCRN Contact Registry.
Background
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. 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 choose 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 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, you may be asked to give a DNA sample through blood, saliva, or cheek cells. Your specimen and genetic materials may be used in mitochondrial disease research.
Additional Information
- 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.
- After the initial enrollment, updates on your medical history will be collected during your regular clinic visits in an annual basis.
- Deceased mitochondrial disease patients are eligible.
How to participate
You may participate in one of two ways:
- In person at one of the 17 NAMDC enrolling centers NAMDC Centers
- NAMDC is not currently accepting remote enrollments via our web-based platform. To participate, please approach one of our 17 enrolling NAMDC centers throughout North America, or check back later at https://namdc.org.
Administrative Core
Columbia University Irving Medical Center
Contact:
Principal Investigator: Michio Hirano, MD
212-305-1048
mh29@columbia.edu
NAMDC Project Manager: Janet DeRosa, MPH
212-342-2336
namdc@columbia.edu
Summary
The goal of this study is to find the best way to help people with primary mitochondrial disease deal with the stress of their condition, and to help these people be better able to "bounce back," or be resilient. In order to do this, the investigators are going to test two interventions (an intervention means that it aims to change something): Promoting Resilience in Stress Management (PRISM) and clinical-focused narrative (CFN) intervention.
Description
The investigators are going to test two interventions in this pilot study. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention. These interventions involve talking with the researcher about several specific topics.
Participants will join six virtual study visits. They will be assigned to the PRISM group or the CFN group. During the first study visit, participants will learn about the study and will fill out consent forms if they want to participate. In the next four visits, participants will receive one of the study interventions (PRISM or CFN). Some interventions will be supported with a digital app for participants to track progress and review what was talked about in the intervention. The sixth virtual study visit will be a discussion group that happens a couple months after participants finish the intervention.
Participants will also be sent several surveys to complete. One set of surveys is sent just once after the participant enrolls in the study. Another set of surveys is sent after the participant enrolls and again after the participant finishes the interventions.
The study team will review participants' medical records to confirm they have primary mitochondrial disease and to review the genetic diagnosis. If participants do not have copies of their own medical records or if the study team does not already have access to them, the study team will ask participants to sign a release form to obtain a copy of the medical records and/or genetic testing report.
How to participate
In order to participate in a study, you may contact any of the participating sites.