Nondystrophic MyotoniasNCT00244413
Characteristics of Nondystrophic Myotonias
An observational study of Nondystrophic Myotonias and Myotonia Congenita, run by Richard Barohn, MD at 6 sites in 3 countries.
Trial summary
Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Nondystrophic Myotonias, Myotonia Congenita, Myotonic Disorders
- How many people
- 94 participants
- Where
- 6 sitesin 3 countries
- Study dates
- Feb 2006to Sep 2012
- 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with nondystrophic myotonia
Who may be able to join
- Clinical symptoms or signs suggestive of myotonia
- Presence of myotonic potentials on electromyography (EMG)
- Persistence of symptoms and signs after discontinuation of medications that produce myotonia; such medications include fibric acid derivatives, hydroxymethylglutaryl CoA reductase inhibitors, chloroquine, and colchicine
- Absence of features suggestive of myotonic dystrophy, including ptosis, temporal wasting, mandibular weakness, cataracts occurring before age 50, and evidence of multisystem defects (cardiac conduction defects, hypogonadism)
Who cannot join
- Any other neurologic condition that might affect the assessment of the study measurements
Trial locations and contacts
6 sites in 3 countries.
6 sites in 3 countries
United States4 sites
Brigham & Women's Hospital, Department of Neurology
Boston, Massachusetts, 02115
University of Texas Southwestern Medical Center
Dallas, Texas, 75390-9036
University of Kansas Medical Center, Department of Neurology
Kansas City, Kansas, 66160
University of Rochester School of Medicine and Dentistry, Department of Neurology
Rochester, New York, 14642
Canada1 site
London Health Sciences Centre, University Hospital
London, Ontario
United Kingdom1 site
Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology
London, WC1N 3BG
About this study
Official title: Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study
Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.
Read the detailed description
Nondystrophic myotonias are muscle disorders caused by abnormal muscle cell membrane proteins that affect the control of muscle fiber contraction. These disorders are extremely rare, and little is known about how to best treat the various subtypes of NDM. The purpose of this study is to characterize the clinical features and symptoms of NDM as well as to pair this data with specific NDM subtypes. In turn, this may lead to the development of improved treatments. The study will also establish clinical endpoints for use in future studies.
This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend a one-day outpatient study visit. Various baseline measurements will be collected, including demographics, medical history, and quality of life measures. Blood samples will be taken to evaluate laboratory values and genetic factors. Participants will undergo manual muscle testing (MMT), clinical myotonia assessments, and functional movement assessments. Routine nerve conduction studies and electromyography (EMG) will also be performed in order to test for the presence of myotonia in specific muscles. Annual follow-up evaluations will occur 1 and 2 years following the first study visit.
- Keywords
- Myotonia, Paramyotonia Congenita, Thomsen's Disease
- Medical subject headings
- Myotonia Congenita, Myotonic Disorders, Myotonia
What is being measured
The primary outcome is the main question the study is designed to answer.
Examine the frequency applicable events related to Nondystrophic Myotonia
We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.
Measured: Baseline - 3 yrs
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Oct 2005 (estimated)
- Study startFeb 2006
- Primary completionSep 2012
- Study completionSep 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Nondystrophic MyotoniasStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 94 participants (actual)
Sponsor and investigators
- Lead sponsor
- Richard Barohn, MD
- Sponsor type
- University, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network
- Responsible party
- Sponsor-investigator, Richard Barohn, MD, University of Kansas Medical Center
- Investigators
- Richard Barohn, MD, Principal investigator, University of Kansas Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00244413
- Sponsor's protocol ID
- 10263
- Status last verified
- Mar 2013
- First submitted
- 24 Oct 2005
- Last updated
- 6 Mar 2013
- Results posted
- No
Publications
Torbergsen T, Hodnebo A, Brautaset NJ, Loseth S, Stalberg E. A rare form of painful nondystrophic myotonia. Clin Neurophysiol. 2003 Dec;114(12):2347-54. doi: 10.1016/s1388-2457(03)00275-x.
PubMed 14652094Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol. 2002;88:235-52. No abstract available.
PubMed 11908229Cannon SC. Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Kidney Int. 2000 Mar;57(3):772-9. doi: 10.1046/j.1523-1755.2000.00914.x.
PubMed 10720928Cannon SC. From mutation to myotonia in sodium channel disorders. Neuromuscul Disord. 1997 Jun;7(4):241-9. doi: 10.1016/s0960-8966(97)00430-6.
PubMed 9196906Moxley RT 3rd. The myotonias: their diagnosis and treatment. Compr Ther. 1996 Jan;22(1):8-21. No abstract available.
PubMed 8654027Brown RH Jr. Ion channel mutations in periodic paralysis and related myotonic diseases. Ann N Y Acad Sci. 1993 Dec 20;707:305-16. doi: 10.1111/j.1749-6632.1993.tb38061.x. No abstract available.
PubMed 9137561
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study
- ClinicalTrials.gov ID
- NCT00244413
- Acronym / sponsor ID
- 10263
- Keywords
- Myotonia, Paramyotonia Congenita, Thomsen's Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 94 participants (actual)
- Lead sponsor
- Richard Barohn, MDUniversity, hospital or other
- Collaborators
- Office of Rare Diseases (ORD), Rare Diseases Clinical Research Network
- Study start
- Feb 2006
- Primary completion
- Sep 2012 (actual)
- Study completion
- Sep 2012 (actual)
- First posted
- 26 Oct 2005 (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.
Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.
Detailed description
Nondystrophic myotonias are muscle disorders caused by abnormal muscle cell membrane proteins that affect the control of muscle fiber contraction. These disorders are extremely rare, and little is known about how to best treat the various subtypes of NDM. The purpose of this study is to characterize the clinical features and symptoms of NDM as well as to pair this data with specific NDM subtypes. In turn, this may lead to the development of improved treatments. The study will also establish clinical endpoints for use in future studies.
This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend a one-day outpatient study visit. Various baseline measurements will be collected, including demographics, medical history, and quality of life measures. Blood samples will be taken to evaluate laboratory values and genetic factors. Participants will undergo manual muscle testing (MMT), clinical myotonia assessments, and functional movement assessments. Routine nerve conduction studies and electromyography (EMG) will also be performed in order to test for the presence of myotonia in specific muscles. Annual follow-up evaluations will occur 1 and 2 years following the first study visit.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with nondystrophic myotonia
Key inclusion criteria (4 listed)
- Clinical symptoms or signs suggestive of myotonia
- Presence of myotonic potentials on electromyography (EMG)
- Persistence of symptoms and signs after discontinuation of medications that produce myotonia; such medications include fibric acid derivatives, hydroxymethylglutaryl CoA reductase inhibitors, chloroquine, and colchicine
- Absence of features suggestive of myotonic dystrophy, including ptosis, temporal wasting, mandibular weakness, cataracts occurring before age 50, and evidence of multisystem defects (cardiac conduction defects, hypogonadism)
Key exclusion criteria (1 listed)
- Any other neurologic condition that might affect the assessment of the study measurements
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
Examine the frequency applicable events related to Nondystrophic Myotonia
Time frame: Baseline - 3 yrs
We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2013.
- Background: PubMed 14652094Torbergsen T, Hodnebo A, Brautaset NJ, Loseth S, Stalberg E. A rare form of painful nondystrophic myotonia. Clin Neurophysiol. 2003 Dec;114(12):2347-54. doi: 10.1016/s1388-2457(03)00275-x.
- Background: PubMed 11908229Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol. 2002;88:235-52. No abstract available.
- Background: PubMed 10720928Cannon SC. Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. Kidney Int. 2000 Mar;57(3):772-9. doi: 10.1046/j.1523-1755.2000.00914.x.
- Background: PubMed 9196906Cannon SC. From mutation to myotonia in sodium channel disorders. Neuromuscul Disord. 1997 Jun;7(4):241-9. doi: 10.1016/s0960-8966(97)00430-6.
- Background: PubMed 8654027Moxley RT 3rd. The myotonias: their diagnosis and treatment. Compr Ther. 1996 Jan;22(1):8-21. No abstract available.
- Background: PubMed 9137561Brown RH Jr. Ion channel mutations in periodic paralysis and related myotonic diseases. Ann N Y Acad Sci. 1993 Dec 20;707:305-16. doi: 10.1111/j.1749-6632.1993.tb38061.x. No abstract available.
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.
Richard Barohn, MD principal investigator
University of Kansas Medical Center
6 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nondystrophic Myotonias and Myotonia Congenita, run by Richard Barohn, MD at 6 sites in 3 countries.
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 4 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: finished, as of the sponsor's last update on 6 Mar 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, Canada, United Kingdom. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Examine the frequency applicable events related to Nondystrophic Myotonia (time frame: Baseline - 3 yrs). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00244413, which also lists 6 linked publications.
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 6 Mar 2013.