The purpose of this survey is to increase our understanding of the difficult, confusing, and burdensome “Diagnostic Odyssey” which patients with mitochondrial disease frequently experience.
This study is for individuals diagnosed by a doctor with a mitochondrial disease.
Mitochondrial diseases are rare but very serious genetic disorders caused by defects in the mitochondrial or energy-producing cells in the body. Few treatments are available. Most mitochondrial diseases get worse the older a person gets. Symptoms vary widely. They include developmental delay or regression, muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death.
A previous survey, Odyssey1, provided valuable information on the Diagnostic Odyssey. Odyssey2 will increase our understanding of how long it takes for patients to receive a diagnosis of mitochondrial disease, how this process is changing as new tests are being developed, and the impact of a mitochondrial diagnosis. It asks 7 questions.
- How long from when patients first notice symptoms to when they receive a diagnosis of mitochondrial disease?
- How many physicians do patients usually see before their mitochondrial diagnosis?
- What tests to patients have?
- What other diagnoses (not for mitochondrial disease) do patients receive?
- How does receiving a mitochondrial disease diagnosis affect the patient’s life?
- If the patient learned that their mitochondrial diagnosis was incorrect, what impact do they think would that have?
- Have any of 1-6 changed since Odyssey1?
About this Study
Participants complete an online survey from the North American Mitochondrial Disease Consortium (NAMDC) which is sent to everyone enrolled two patient registries: 1) the Rare Diseases Clinical Research Network (RDCRN) North American Mitochondrial Disease Consortium Contact Registry; and 2) the United Mitochondrial Disease Foundation (UMDF) Mitochondrial Disease Community Registry (MDCR).
The online survey contains between 23 and 37 questions and takes about 20 minutes to complete. It has no questions that request data that identify the individual who is responding. Participants can skip question(s) they do not wish to answer.
Individuals can join Odyssey2 if they meet all of these three requirements:
- They consent online to participate. No forms are required.
- They belong to EITHER the Rare Diseases Clinical Research Network North American Mitochondrial Disease Consortium Contact Registry OR the United Mitochondrial Disease Foundation Mitochondrial Disease Community Registry.
- They report that they or a loved one have received a diagnosis of mitochondrial disease from a doctor. If a loved one, they complete the survey on the loved one’s behalf.
How to participate
A study invitation will be sent to the email address that people provided when they joined either the RDCRN North American Mitochondrial Disease Consortium Contact Registry or the UMDF Mitochondrial Disease Community Registry. Only people who belong to one of the registries at the time of study activation will be able to receive the study invitation email.
If interested in joining the study, the individual should clink the link inside the study email invitation to be brought to the online study consent. Once electronic consent has been given, the link will then direct the individual to the survey.