Mitochondrial nt3243 A>G Mutation in Taiwan

NCT02114554 | Unknown

• 1 other identifier: 201307058RINB
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

MELAS; MIDD; Heteroplasmy

Outcome Measures

Primary Outcomes (1)

• 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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with mitochondrial DNA nt3243 A\>G mutation detected at National Taiwan University Hospital.

You may qualify if:

• Patients with mitochondrial DNA nt3243 A\>G mutation

You may not qualify if:

• Patients without confirmed mitochondrial DNA nt3243 A\>G mutation

Sponsors & Collaborators

• National Taiwan University Hospital: lead
• National Cheng-Kung University Hospital: collaborator

Study Sites (1)

National Taiwan University Hospital

Taipei, 100, Taiwan

RECRUITING

MeSH Terms

Conditions

MELAS Syndrome; Noninsulin-dependent diabetes mellitus with deafness

Condition Hierarchy (Ancestors)

Mitochondrial Encephalomyopathies; Mitochondrial Myopathies; Muscular Diseases; Musculoskeletal Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Neuromuscular Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases

Study Officials

• Pei-Lin Lee, MD, PhD

  National Taiwan University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Han-Chung Hsiue, MD

CONTACT

886-23123456; hanchunghsiue@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 9, 2014
• First Posted: April 15, 2014
• Study Start: January 1, 2014
• Primary Completion: January 1, 2015
• Study Completion: January 1, 2015
• Last Updated: April 15, 2014

Record last verified: 2014-04

Locations

TW (1)