MELAS Syndrome Clinical Trial
Official title:
Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases. Syndromes associated with this mutation include mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fibers (MERRF), and chronic progressive external ophthalmoplegia (CPEO). Clinical analyses of mitochondrial DNA nt3243A>G mutation from Taiwan remain scarce. The present study aims to investigate the clinical features and prognostic factors of patients with mt3243A>G mutation in Taiwan.
Status | Recruiting |
Enrollment | 40 |
Est. completion date | January 2015 |
Est. primary completion date | January 2015 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | N/A and older |
Eligibility |
Inclusion Criteria: -Patients with mitochondrial DNA nt3243 A>G mutation Exclusion Criteria: -Patients without confirmed mitochondrial DNA nt3243 A>G mutation |
Observational Model: Case-Only, Time Perspective: Retrospective
Country | Name | City | State |
---|---|---|---|
Taiwan | National Taiwan University Hospital | Taipei |
Lead Sponsor | Collaborator |
---|---|
National Taiwan University Hospital | National Cheng-Kung University Hospital |
Taiwan,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Prognostic factors for poor outcome | Poor outcome includes death and development of poor performance (a modified Rankin scale 4 or higher). Univariate and multivariate analyses will be utilized to study whether specific clinical presentations (for instance, the presence of stroke, seizure, diabetes, etc.) and degree of heteroplasmy are associated with poor outcome. | Within follow-up period, which is estimated to be 5 years in average. | No |
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