NCT02114554|Unknown
Mitochondrial nt3243 A>G Mutation in Taiwan
Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan
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Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan
Sponsor study identifier
observational
40
1 country
1
Study Start
January 2014
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
January 2015
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
January 2015
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
January 2015
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
January 2014
Date type not reportedThis date has not been verified as actual or estimated.
February 9, 2014
Actual (reported)April 15, 2014
Actual (reported)January 2015
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
January 2015
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
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.
Patients with mitochondrial DNA nt3243 A\>G mutation detected at National Taiwan University Hospital.
National Taiwan University Hospital
Taipei, 100, Taiwan
Pei-Lin Lee, MD, PhD
National Taiwan University Hospital
First Submitted
February 9, 2014
First Posted
April 15, 2014
Study Start
January 2014
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
January 2015
Estimated (date passed)Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
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This estimate has passed. The registry has not confirmed an actual date for this milestone.
Study Completion
January 2015
Estimated (date passed)This estimate has passed. The registry has not confirmed an actual date for this milestone.
Last Updated
April 15, 2014
Record last verified: 2014-04
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