MedDataX Logo

Inherited Myokymia: A Clinical and Genetic Study of a Family

NCT ID: NCT01250704

Last Updated: 2010-12-01

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

18 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-04-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

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

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

Neuromyotonia, Isaac's syndrome; Peripheral nerve hyperexcitability; Myokymia; Potassium channelopathy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

China Medical University Hospital

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

China Medical University Hospital

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Yi-Ting Hsu, MD

Role: STUDY_DIRECTOR

China Medical University Hospital

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

China medical university hospital

Taichung, Taiwan, Taiwan

Site Status RECRUITING

China Medical University Hospital

Taichung, , Taiwan

Site Status NOT_YET_RECRUITING

China medical university hospital

Taichung, , Taiwan

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Taiwan

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Yi-ting Hsu, MD

Role: CONTACT

Phone: 886-4-22062121

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Chon-Haw Tsai, MD, PhD

Role: primary

Yi-ting Hsu, MD

Role: primary

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

DMR99-IRB-190

Identifier Type: -

Identifier Source: org_study_id