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Inherited Myokymia: A Clinical and Genetic Study of a Family

The recruitment status of this study is unknown because the information has not been verified recently.
Verified November 2010 by China Medical University Hospital.
Recruitment status was  Recruiting
Sponsor:
Information provided by:
China Medical University Hospital
ClinicalTrials.gov Identifier:
NCT01250704
First received: November 29, 2010
Last updated: NA
Last verified: November 2010
History: No changes posted
  Purpose

Neuromyotonia (NMT), so called Isaac's syndrome, is a rare disorder in which hyperexcitability of peripheral motor nerves leads to intermittent muscle contractions. It is characterized by muscle twitching at rest (visible myokymia), cramps, hyperhidrosis, paraesthesiae, mild muscle weakness. and impaired muscle relaxation, or pseudomyotonia. Electromyographic recording is a key diagnostic tool in detecting myokymia and neuromyotonia. Pathophysiology of neuromyotonia is claimed to be related immune disorder, autoimmune anti-voltage-gated potassium-channel antibodies and genetic mutation in potassium channel. KCNA1 (Kv1.1) mutation was mostly reported in a autosomal dominant trait. In the present study, we report a family affected with myokymia,worsening with elevated body temperature, febrile illness or spicy food. How the change in temperature influence clinical features of channelopathies is an interesting topic. Variant clinical severity of family members are recorded. The index patient has possible autoimmune mechanism involvement because of his clinical feature of myasthenia gravis with thymoma and hyperthyroidism. Further analyzing the genetic mutation in potassium channelopathy may provide researchers some pathophysiological insight into the Isaac's syndrome.


Condition
A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Inherited Myokymia: A Clinical and Genetic Study of a Family

Resource links provided by NLM:


Further study details as provided by China Medical University Hospital:

Biospecimen Retention:   Samples With DNA

Genomic DNA was extracted from each patient's peripheral blood leukocytes using Genomaker DNA extraction kit (Blossom, Taipei, Taiwan). The complete KCNA1 coding region, including the intron/exon boundaries, was amplified according to the procedure reported by Imbrici et al


Estimated Enrollment: 18
Study Start Date: April 2010
Estimated Primary Completion Date: March 2011 (Final data collection date for primary outcome measure)
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.

Criteria

Inclusion Criteria:

  • The disease was initially diagnosed of Isaacs syndrome by two neurologist(Dr Tsai and Dr Yang). We will recruit family members of diseased patient and normal subjects for clinical, electromyographic and genetic studies.

Exclusion Criteria:

  • none
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01250704

Contacts
Contact: Yi-ting Hsu, MD 886-4-22062121 ext 5039 formosa1005@yahoo.com.tw

Locations
Taiwan
China Medical University Hospital Not yet recruiting
Taichung, Taiwan, 404
Contact: Chon-Haw Tsai, MD, PhD    886-4-22062121 ext 5030    windymovement@yahoo.com.tw   
Principal Investigator: Yi-Ting Hsu, MD         
Principal Investigator: Chon-Haw Tsai, MD,PhD         
Principal Investigator: Yu-Wan Yang, MD,MS         
Principal Investigator: FUU-JEN Tsai, MD, PhD         
China medical university hospital Recruiting
Taichung, Taiwan, 404
Contact: Yi-ting Hsu, MD    886-4-22062121 ext 5039    formosa1005@yahoo.com.tw   
China medical university hospital Recruiting
Taichung, Taiwan, 404
Sponsors and Collaborators
China Medical University Hospital
Investigators
Study Director: Yi-Ting Hsu, MD China Medical University Hospital
  More Information

No publications provided

Responsible Party: Department of Medical Research, China Medical University Hospital
ClinicalTrials.gov Identifier: NCT01250704     History of Changes
Other Study ID Numbers: DMR99-IRB-190
Study First Received: November 29, 2010
Last Updated: November 29, 2010
Health Authority: Taiwan: Department of Health

Keywords provided by China Medical University Hospital:
Neuromyotonia, Isaac's syndrome; Peripheral nerve hyperexcitability; Myokymia; Potassium channelopathy

Additional relevant MeSH terms:
Myokymia
Isaacs Syndrome
Syndrome
Disease
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Neurologic Manifestations
Neuromuscular Diseases
Neuromuscular Manifestations
Pathologic Processes
Peripheral Nervous System Diseases
Signs and Symptoms

ClinicalTrials.gov processed this record on October 20, 2014