7419: Diagnostic Odyssey Survey 2 (Odyssey2)

Status: No Longer Recruiting

Summary

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.

For Diseases

This study is for individuals diagnosed with a mitochondrial disease by a doctor.

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.

Background

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.

  1. How long from when patients first notice symptoms to when they receive a diagnosis of mitochondrial disease?
  2. How many physicians do patients usually see before their mitochondrial diagnosis?
  3. What tests to patients have?
  4. What other diagnoses (not for mitochondrial disease) do patients receive?
  5. How does receiving a mitochondrial disease diagnosis affect the patient’s life?
  6. If the patient learned that their mitochondrial diagnosis was incorrect, what impact do they think would that have?
  7. Have any of 1-6 changed since Odyssey1?

This study is no longer recruiting patients.