NCT00244413

Brief 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. The purpose of this study is to better characterize the clinical features and symptoms of NDM.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
94

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Feb 2006

Longer than P75 for all trials

Geographic Reach
3 countries

6 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 24, 2005

Completed
2 days until next milestone

First Posted

Study publicly available on registry

October 26, 2005

Completed
3 months until next milestone

Study Start

First participant enrolled

February 1, 2006

Completed
6.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2012

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2012

Completed
Last Updated

March 6, 2013

Status Verified

March 1, 2013

Enrollment Period

6.6 years

First QC Date

October 24, 2005

Last Update Submit

March 5, 2013

Conditions

Nondystrophic MyotoniasMyotonia CongenitaMyotonic Disorders

Keywords

MyotoniaParamyotonia CongenitaThomsen's Disease

Outcome Measures

Primary Outcomes (1)

  • Examine the frequency applicable events related to Nondystrophic Myotonia

    We will measure by an interactive voice response to measure stiffness, pain, weakness, and fatigue.

    Baseline - 3 yrs

Eligibility Criteria

Age6 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with nondystrophic myotonia

You may qualify if:

  • 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)

You may not qualify if:

  • Any other neurologic condition that might affect the assessment of the study measurements

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

University of Kansas Medical Center, Department of Neurology

Kansas City, Kansas, 66160, United States

Location

Brigham & Women's Hospital, Department of Neurology

Boston, Massachusetts, 02115, United States

Location

University of Rochester School of Medicine and Dentistry, Department of Neurology

Rochester, New York, 14642, United States

Location

University of Texas Southwestern Medical Center

Dallas, Texas, 75390-9036, United States

Location

London Health Sciences Centre, University Hospital

London, Ontario, Canada

Location

Center for Neuromuscular Disease, Institute of Neurology and National Hospital for Neurology

London, WC1N 3BG, United Kingdom

Location

Related Publications (6)

  • 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.

    PMID: 14652094BACKGROUND

  • Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol. 2002;88:235-52. No abstract available.

    PMID: 11908229BACKGROUND

  • Cannon 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.

    PMID: 10720928BACKGROUND

  • Cannon 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.

    PMID: 9196906BACKGROUND

  • Moxley RT 3rd. The myotonias: their diagnosis and treatment. Compr Ther. 1996 Jan;22(1):8-21. No abstract available.

    PMID: 8654027BACKGROUND

  • Brown 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.

    PMID: 9137561BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples

MeSH Terms

Conditions

Myotonia CongenitaMyotonic DisordersMyotonia

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNeuromuscular ManifestationsNeurologic ManifestationsSigns and SymptomsPathological Conditions, Signs and Symptoms

Study Officials

  • Richard Barohn, MD

    University of Kansas Medical Center

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Gertrude and Dewey Zeigler Professor of Neurology and Chair

Study Record Dates

First Submitted

October 24, 2005

First Posted

October 26, 2005

Study Start

February 1, 2006

Primary Completion

September 1, 2012

Study Completion

September 1, 2012

Last Updated

March 6, 2013

Record last verified: 2013-03

Locations

US(4)GB(1)CA(1)