Status: No Longer Recruiting
Mitochondrial diseases comprise a group of relatively rare (about 1 in 5,000) but very serious genetic disorders. They are caused by defects in mitochondria, the powerhouses of human cells. Symptoms vary widely and include muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive and have poor prognoses and few available treatments.
Research into mitochondrial diseases has been hampered by their low incidence and under-diagnosis by clinicians, which has hindered recruitment of patients for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help alleviate these problems and has generated Research Diagnostic Criteria for mitochondrial diseases. This study will obtain opinions of participating NAMDC physicians towards the NAMDC Diagnostic Criteria and the NAMDC Research Diagnosis generated by the criteria.
About this Study
A survey has been developed to gauge the opinions of participating NAMDC physicians towards the NAMDC Diagnostic Criteria and the NAMDC Research Diagnosis generated by these criteria. The survey is in three parts. The pre-reveal survey assesses general attitudes towards the NAMDC Diagnostic Criteria, and will be completed prior to the distribution of Diagnostic Criteria-generated diagnoses. The individual patient survey evaluates specific reactions to Diagnostic Criteria-generated diagnoses which differ from the physicians own, and will be completed after the physician has received those diagnoses. The post-reveal survey concerns general attitudes towards the Diagnostic Criteria subsequent to the receipt of the Diagnostic Criteria-generated diagnoses.
The survey will be administered once to each physician participating in NAMDC who meets the inclusion criteria, in conjunction with the distribution of the first batch of NAMDC Research Diagnoses.
Both the conduct of the survey and the distribution of the Diagnostic Criteria-generated diagnoses will be accomplished via the secure NAMDC website. As participants in NAMDC, each physician already has a unique user account. For those physicians agreeing to participate in the study, administration of the survey will be an integrated part of the delivery of the Diagnostic Criteria-generated diagnoses.