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Mitochondrial nt3243 A>G Mutation in Taiwan

NCT02114554 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2014-04-15

No results posted yet for this study

Summary

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.

Conditions

  • MELAS Syndrome
  • Noninsulin-dependent Diabetes Mellitus With Deafness

Sponsors & Collaborators

  • National Cheng-Kung University Hospital

    collaborator OTHER

  • National Taiwan University Hospital

    lead OTHER

Principal Investigators

  • Pei-Lin Lee, MD, PhD · National Taiwan University Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-01-31
Primary Completion
2015-01-31
Completion
2015-01-31

Countries

  • Taiwan

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02114554 on ClinicalTrials.gov