A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's SyndromeNCT01250704
Inherited Myokymia: A Clinical and Genetic Study of a Family
An observational study of A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome, run by China Medical University Hospital at 3 sites in Taiwan.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
- How many people
- 18 participants
- Where
- 3 sitesTaiwan
- Study dates
- Apr 2010to Mar 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.
Who may be able to join
- 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.
Who cannot join
- none
Trial locations and contacts
3 sites in 1 country.
Taiwan3 sites, 3 recruiting
- Recruiting
China medical university hospital
Taichung, Taiwan, 404
- Not yet recruiting
China Medical University Hospital
Taichung, 404
Chon-Haw Tsai, MD, PhD, 886-4-22062121 ext. 5030, windymovement@yahoo.com.tw
Yi-Ting Hsu, MD
- Recruiting
China medical university hospital
Taichung, 404
Yi-ting Hsu, MD, 886-4-22062121 ext. 5039, formosa1005@yahoo.com.tw
About this study
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.
- Conditions
- A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
- Keywords
- Neuromyotonia, Isaac's syndrome; Peripheral nerve hyperexcitability; Myokymia; Potassium channelopathy
- Medical subject headings
- Isaacs Syndrome, Myokymia
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Dec 2010 (estimated)
- Study startApr 2010
- Primary completionMar 2011 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's SyndromeStudies of the same condition, open and under way.
- More trials run by China Medical University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 18 participants (estimated)
Sponsor and investigators
- Lead sponsor
- China Medical University Hospital
- Sponsor type
- University, hospital or other
- Investigators
- Yi-Ting Hsu, MD, Study director, China Medical University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01250704
- Sponsor's protocol ID
- DMR99-IRB-190
- Status last verified
- Nov 2010
- First submitted
- 29 Nov 2010
- Last updated
- 1 Dec 2010
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 1 Dec 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Inherited Myokymia: A Clinical and Genetic Study of a Family
- ClinicalTrials.gov ID
- NCT01250704
- Acronym / sponsor ID
- DMR99-IRB-190
- Conditions
- A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome
- Keywords
- Neuromyotonia, Isaac's syndrome; Peripheral nerve hyperexcitability; Myokymia; Potassium channelopathy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 18 participants (estimated)
- Lead sponsor
- China Medical University HospitalUniversity, hospital or other
- Study start
- Apr 2010
- Primary completion
- Mar 2011 (estimated)
- First posted
- 1 Dec 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- We interview and examine the family members directly at our hospital and home visit or indirectly by telephone visit.
Key inclusion criteria (1 listed)
- 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.
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Dec 2010.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Yi-Ting Hsu, MD study director
China Medical University Hospital
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of A Study of Clinical and Genetic Mutations in a Family of Neuromyotonia, so Called Isaac's Syndrome, run by China Medical University Hospital at 3 sites in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 1 Dec 2010. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yi-ting Hsu, MD (886-4-22062121 ext. 5039, formosa1005@yahoo.com.tw), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Dec 2010; AzTrials last refreshed its copy on 8 Nov 2026.