| 1 |
NCT00244413 |
Completed |
Characteristics of Nondystrophic Myotonias |
- Nondystrophic Myotonias
- Myotonia Congenita
- Myotonic Disorders
|
|
Observational
|
|
- Richard Barohn, MD
- Office of Rare Diseases (ORD)
- Rare Diseases Clinical Research Network
- University of Kansas Medical Center
|
Other / NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Examine the frequency applicable events related to Nondystrophic Myotonia
|
94 |
All |
6 Years and older (Child, Adult, Older Adult) |
NCT00244413 |
10263 |
|
February 2006 |
September 2012 |
September 2012 |
October 26, 2005 |
March 6, 2013 |
|
- University of Kansas Medical Center, Department of Neurology
Kansas City, Kansas, United States - Brigham & Women's Hospital, Department of Neurology
Boston, Massachusetts, United States - University of Rochester School of Medicine and Dentistry, Department of Neurology
Rochester, New York, United States - (and 3 more...)
|
|
| 2 |
NCT02398786 |
Recruiting |
Myotonic Dystrophy Family Registry |
- Myotonic Dystrophy
- Congenital Myotonic Dystrophy
- Myotonic Dystrophy 1
- (and 13 more...)
|
- Other: Patient-entered data
|
Observational
|
|
- Myotonic Dystrophy Foundation
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Patient reported outcomes
|
3000 |
All |
Child, Adult, Older Adult |
NCT02398786 |
MDF001 |
MDFR |
February 2013 |
February 2020 |
February 2020 |
March 26, 2015 |
September 3, 2018 |
|
- Myotonic Dystrophy Foundation
San Francisco, California, United States
|
|
| 3 |
NCT00082108 |
Recruiting |
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry |
- Myotonic Dystrophy
- Facioscapulohumeral Muscular Dystrophy
- Muscular Dystrophy
- (and 6 more...)
|
|
Observational
|
|
- University of Rochester
- National Institute of Neurological Disorders and Stroke (NINDS)
|
Other / NIH |
- Observational Model: Other
- Time Perspective: Prospective
|
- Patient reported outcomes
|
3000 |
All |
Child, Adult, Older Adult |
NCT00082108 |
NIAMS-104
U54NS048843 |
|
September 2000 |
June 2023 |
June 2023 |
April 30, 2004 |
October 4, 2018 |
|
- University of Rochester Medical Center, Department of Neurology
Rochester, New York, United States
|
|
| 4 |
NCT02336477 |
Completed |
Mexiletine and Non Dystrophic Myotonias |
- Non-dystrophic Myotonias
- Paramyotonia Congenita
- Myotonia Congenita
|
- Drug: Mexiletine
- Drug: placebo
|
Interventional
|
Phase 3 |
- Assistance Publique - Hôpitaux de Paris
|
Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- score of stiffness severity on a self-assessment scale (100 mm VAS)
- standardized EMG measures after repetitive short exercise test at cold and long exercise test
- chair test: time needed to stand up from a chair, walk around it and sit down again
- (and 3 more...)
|
24 |
All |
18 Years to 65 Years (Adult, Older Adult) |
NCT02336477 |
P091101 |
MYOMEX |
June 2011 |
January 2014 |
January 2014 |
January 13, 2015 |
January 13, 2015 |
|
- Groupe Hospitalier Pitié Salpetriere
Paris, France
|
|
| 5 |
NCT02251457 |
Completed |
Study of Ranolazine in Myotonia Congenita, Paramyotonia Congenita and Myotonic Dystrophy Type 1 |
- Myotonia Congenita
- Paramyotonia Congenita
- Myotonic Dystrophy 1
|
|
Interventional
|
Phase 1 |
- Ohio State University
- Gilead Sciences
|
Other / Industry |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Questionnaires: Short Form Health Survey (SF-36) and Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
- Muscle tasks
- Electromyography (EMG) Myotonia
- Electrocardiogram (ECG)
|
35 |
All |
18 Years to 100 Years (Adult, Older Adult) |
NCT02251457 |
IN-US-259-1605 |
|
August 2014 |
December 18, 2017 |
December 18, 2017 |
September 29, 2014 |
March 5, 2019 |
|
- The Ohio State University Wexner Medical Center
Columbus, Ohio, United States
|
|
| 6 |
NCT00004802 |
Completed |
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders |
- Paralysis, Hyperkalemic Periodic
- Hypokalemic Periodic Paralysis
- Paramyotonia Congenita
|
|
Interventional
|
Phase 3 |
- National Center for Research Resources (NCRR)
- Ohio State University
- Office of Rare Diseases (ORD)
|
NIH / Other |
- Allocation: Randomized
- Masking: Double
- Primary Purpose: Treatment
|
|
64 |
All |
10 Years to 75 Years (Child, Adult, Older Adult) |
NCT00004802 |
199/11958
OSU-92H0173 |
|
June 1992 |
|
|
February 25, 2000 |
June 24, 2005 |
|
|
|
| 7 |
NCT01939561 |
Completed |
Lamotrigine as Treatment of Myotonia |
- Dystrophia Myotonica Type 1
- Myotonia Congenita
- Paramyotonia Congenita
- (and 2 more...)
|
- Drug: Lamotrigine
- Drug: Placebo
|
Interventional
|
Phase 3 |
- Grete Andersen, MD
- Rigshospitalet, Denmark
|
Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- change from baseline in Myotonia Behavior Scale (MBS)
- Change from baseline in evaluation of Myotonia
- average in use of escape medicine
- change from baseline in the SF-36 questionnaire
|
27 |
All |
18 Years and older (Adult, Older Adult) |
NCT01939561 |
2013-MY
2013-003309-24 |
|
November 2013 |
November 2015 |
November 2015 |
September 11, 2013 |
April 25, 2016 |
|
- Copenhagen Neuromuscular Center, department of Neurology, Rigshospitalet
Copenhagen, Denmark
|
|
| 8 |
NCT02375087 |
Unknown † |
Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? |
|
|
Observational
|
|
- University Hospital, Grenoble
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Cardiac arythmia related to hypoxia and respiratory events
- A temporal link between Sleep desordered breathing events and the developpement of arrythmias
- To assess during the entire night the increase in sympathetic activity (LF/HF ratio) in response to abnormal respiratory events during sleep and the relationship between sympathetic activity and prevalence of arrhythmias
- (and 2 more...)
|
70 |
All |
18 Years and older (Adult, Older Adult) |
NCT02375087 |
"STAR" |
STAR |
May 2014 |
May 2017 |
September 2017 |
March 2, 2015 |
November 11, 2016 |
|
|
|
| 9 |
NCT02880735 |
Recruiting |
Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy |
- Myotonic Dystrophy 1
- Steinert Disease
|
- Device: Non Invasive Ventilation.
|
Interventional
|
Not Applicable |
- National Institute of Respiratory Diseases, Mexico
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Ventilatory Response to Chemical Stimuli
- Health Related Quality of Life Measured by Short Form 36 (SF-36)
- Dyspnoea evaluated by the modified scale of the Medical Research Council (mMRC)
- Sleep Quality assessed by The Pittsburgh Sleep Quality Index (PSQI)
|
27 |
All |
18 Years and older (Adult, Older Adult) |
NCT02880735 |
C46-15 |
|
September 2016 |
December 2018 |
April 2019 |
August 26, 2016 |
July 11, 2018 |
|
- National Institute Of Respiratory Diseases
Mexico, Mexico
|
|
| 10 |
NCT03784586 |
Recruiting |
Sudden Cardiac Death Stratification in Myotonic Dystrophy Type 1 Patients |
- Myotonic Dystrophy 1
- Sudden Cardiac Death
|
|
Observational
|
|
- University of Campania "Luigi Vanvitelli"
|
Other |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- All-cause mortality
- Sudden cardiac death
|
51 |
All |
18 Years to 75 Years (Adult, Older Adult) |
NCT03784586 |
01_MD1 |
ACADEMY 1 |
February 1, 2012 |
January 31, 2020 |
January 31, 2020 |
December 24, 2018 |
September 19, 2019 |
|
- Vincenzo Russo
Naples, Italy
|
|
| 11 |
NCT03211923 |
Enrolling by invitation |
Muscle Relaxation in Myopathies With Positive Muscle Phenomena |
- Nemaline Myopathy Type 6
- Myotonic Dystrophy Type 2
- McArdle Disease
|
- Diagnostic Test: Transcranial magnetic stimulation (TMS)
|
Observational
|
|
|
Other |
- Observational Model: Case-Control
- Time Perspective: Cross-Sectional
|
- Normalized peak relaxation rate
- Force decline at 150ms
- Relaxation times (RT)
- Maximal muscle strength
|
30 |
All |
18 Years and older (Adult, Older Adult) |
NCT03211923 |
NL57301.091.16 |
|
January 5, 2017 |
December 31, 2019 |
December 31, 2019 |
July 7, 2017 |
October 1, 2019 |
|
|
|
| 12 |
NCT02930408 |
Terminated |
Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects |
|
- Procedure: electrocardiogram
- Procedure: Echocardiography
|
Interventional
|
Not Applicable |
- Poitiers University Hospital
|
Other |
|
- Ventricular Ejection Fraction Left 3D
- Global longitudinal systolic Strain
- Strain of the dispersion index
|
70 |
All |
18 Years to 99 Years (Adult, Older Adult) |
NCT02930408 |
STEINECHO |
|
January 2014 |
July 2015 |
|
October 12, 2016 |
October 12, 2016 |
|
|
|
| 13 |
NCT02708784 |
Unknown † |
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica- |
- Glycogen Storage Disease Type 2
- Dystrophia Myotonica
|
|
Observational
|
|
|
Other |
- Time Perspective: Cross-Sectional
|
- Muscle strength in Newton*meter
- Muscle to fat ratio
- Volume ratio
- (and 2 more...)
|
60 |
All |
18 Years and older (Adult, Older Adult) |
NCT02708784 |
PsDM15RMBH |
|
September 2015 |
August 2016 |
September 2016 |
March 15, 2016 |
March 15, 2016 |
|
- Department of Neurology, Aarhus University Hospital
Aarhus C, Denmark - MR centre, Skejby University Hospital.
Aarhus N, Denmark
|
|
| 14 |
NCT03764150 |
Recruiting |
Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years |
- Myotonic Dystrophy, Steinert
|
|
Observational
|
|
- University Hospital, Lille
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Change of measurement of spirometry
- Change respiratory force
- Change CO2 response (Read test)
- (and 4 more...)
|
160 |
All |
18 Years and older (Adult, Older Adult) |
NCT03764150 |
2009_04/0923
2009-A00588-49 |
Steinert |
June 30, 2010 |
September 2019 |
September 2019 |
December 4, 2018 |
December 4, 2018 |
|
- Hôpital Calmette, CHRU
Lille, France
|
|
| 15 |
NCT01242007 |
Completed |
Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients |
|
|
Interventional
|
Not Applicable |
- University of Nancy
- Central Hospital, Nancy, France
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Diagnostic
|
- Evidence of lung function impairment
- predictive factors of lung function impairment
|
58 |
All |
18 Years and older (Adult, Older Adult) |
NCT01242007 |
UNBC-11102010 |
|
April 2008 |
June 2010 |
June 2010 |
November 16, 2010 |
November 16, 2010 |
|
- University Hospital of Nancy
Vandoeuvre-lès-Nancy, France
|
|
| 16 |
NCT01931644 |
Recruiting |
At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions |
- All Diagnosed Health Conditions
- ADD/ADHD
- Alopecia Areata
- (and 58 more...)
|
|
Observational
|
|
|
Industry |
- Observational Model: Cohort
- Time Perspective: Cross-Sectional
|
- Biospecimen & Clinical Data Collection
|
20000 |
All |
18 Years to 100 Years (Adult, Older Adult) |
NCT01931644 |
SAN-BB-01 |
|
July 2013 |
August 2025 |
December 2040 |
August 29, 2013 |
October 8, 2019 |
|
- Sanguine Biosciences
Los Angeles, California, United States
|
|
| 17 |
NCT03867435 |
Recruiting |
Assessing Clinical Endpoints and Biomarkers in Myotonic Dystrophy Type-1 and Type 2 (ASCEND-DM) |
- Myotonic Dystrophy Type-1
- Myotonic Dystrophy Type-2
|
|
Observational
|
|
- National Institute of Neurological Disorders and Stroke (NINDS)
- National Institutes of Health Clinical Center (CC)
|
NIH |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- to characterize baseline status and disease progression over two years in the handgrip strength by dynamometry of DM1 and DM2 patients.
- CSF RNA biomarkers, genetic mofiers of disease severity
- muscle strength, myotonia, physical function of limbs, MRI changes of muscle fat %, cognition, brain MRI changes, diaphragm function, muscle RNA biomarkers, sleep, speech, swallow, bowel function
|
180 |
All |
11 Years to 70 Years (Child, Adult, Older Adult) |
NCT03867435 |
190065
19-N-0065 |
|
October 23, 2019 |
January 1, 2023 |
January 1, 2023 |
March 8, 2019 |
October 18, 2019 |
|
- National Institutes of Health Clinical Center
Bethesda, Maryland, United States
|
|
| 18 |
NCT02831504 |
Active, not recruiting |
PhenoDM1 (Myotonic Dystrophy Type 1 Natural History Study) |
- Myotonic Dystrophy Type 1
|
|
Observational
|
|
- Newcastle-upon-Tyne Hospitals NHS Trust
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Strength and function
- Cognitive assessment
- Quality of Life using patient-reported outcomes
- (and 4 more...)
|
213 |
All |
18 Years and older (Adult, Older Adult) |
NCT02831504 |
7491 |
PhenoDM1 |
August 2015 |
October 31, 2018 |
October 31, 2018 |
July 13, 2016 |
March 29, 2018 |
|
- Newcastle-upon-Tyne Hospitals NHS Trust
Newcastle Upon Tyne, Tyne And Wear, United Kingdom - University College London Hospitals NHS Foundation Trust, National Hospital for Neurology and Neurosurgery
London, United Kingdom
|
|
| 19 |
NCT02729597 |
Completed |
Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study |
- Myotonic Dystrophy 1
- Myotonic Dystrophy 2
|
- Other: medical history
- Other: neurological clinical examination
- Other: neuropsychological testing
- Other: brain MRI
|
Observational
|
|
- University Hospital, Bonn
- Forschungszentrum Juelich
- Life and Brain Center Bonn
- The Marigold Foundation
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Change in diffusivity indices as assessed by brain MRI with diffusion tensor imaging (DTI) sequences
- Gray matter changes assessed by magnetic resonance imaging (MRI)-voxel-based morphometry (VBM)
- Quantification of white matter lesions using age-related white matter changes (ARWMC) rating scale
- (and 20 more...)
|
49 |
All |
18 Years to 70 Years (Adult, Older Adult) |
NCT02729597 |
DM-1-2 |
|
May 2007 |
December 2014 |
August 2015 |
April 6, 2016 |
April 6, 2016 |
|
|
|
| 20 |
NCT03603171 |
Recruiting |
Clinical Outcome Measures in Myotonic Dystrophy Type 2 |
- Myotonic Dystrophy Type 2
|
- Diagnostic Test: DM1-ActivC
- Diagnostic Test: R-PAct
- Diagnostic Test: Beck depression inventory
- (and 16 more...)
|
Observational
|
|
- Prof. Dr. Benedikt Schoser
- Klinikum der Universitaet Muenchen
|
Other |
- Observational Model: Case-Control
- Time Perspective: Prospective
|
- Quick motor function test (QMFT)
- DM1-ActivC
- R-PAct
- (and 16 more...)
|
60 |
All |
18 Years to 90 Years (Adult, Older Adult) |
NCT03603171 |
KlinikumUM |
COMEDY-2 |
July 1, 2018 |
July 31, 2019 |
March 31, 2020 |
July 27, 2018 |
August 1, 2019 |
|
- Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Munich, Bavaria, Germany
|
|
| 21 |
NCT03692312 |
Not yet recruiting |
Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy |
- Congenital Myotonic Dystrophy
|
- Drug: Tideglusib
- Drug: Placebo
|
Interventional
|
Phase 2
Phase 3 |
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Change in Clinician-Completed Congenital DM1 Rating Scale (CDM1-RS)
- Change in Clinical Global Impression- Improvement Scale (CGI-I) scores
- Change in Top 3 Caregiver Concerns Visual Analogue Scale (VAS) score
- (and 4 more...)
|
56 |
All |
6 Years to 16 Years (Child) |
NCT03692312 |
AMO-02-MD-2-003
2016-004623-23 |
|
October 2018 |
October 2019 |
November 2019 |
October 2, 2018 |
October 2, 2018 |
|
- Stanford University
Palo Alto, California, United States - University of Iowa Hospitals
Iowa City, Iowa, United States - University of Rochester Medical Center
Rochester, New York, United States - (and 2 more...)
|
|
| 22 |
NCT02312011 |
Completed |
A Safety andTolerability Study of Multiple Doses of ISIS-DMPKRx in Adults With Myotonic Dystrophy Type 1 |
- Myotonic Dystrophy Type 1
|
- Drug: IONIS-DMPKRx
- Drug: Placebo
|
Interventional
|
Phase 1
Phase 2 |
- Ionis Pharmaceuticals, Inc.
|
Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Triple (Participant, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Safety (The number of participants with adverse events)
- Tolerability (The number of participants with adverse events)
- Plasma Pharmacokinetics (Cmax, Tmax)
- Urine Pharmacokinetics (Amount of drug excreted in the urine)
|
48 |
All |
20 Years to 55 Years (Adult) |
NCT02312011 |
ISIS 598769-CS2 |
|
December 2014 |
July 2016 |
August 2016 |
December 9, 2014 |
June 25, 2018 |
|
- Stanford University Medical Center
Stanford, California, United States - University of Florida
Gainesville, Florida, United States - University of Kansas Medical Center
Kansas City, Kansas, United States - (and 5 more...)
|
|
| 23 |
NCT04003363 |
Recruiting |
The United Kingdom National Registry for Myotonic Dystrophy |
|
|
Observational
|
|
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Patient questionnaire
- Clinician questionnaire
|
750 |
All |
Child, Adult, Older Adult |
NCT04003363 |
18/NE/0289 |
|
May 2012 |
December 2020 |
December 2020 |
July 1, 2019 |
July 1, 2019 |
|
- John Walton Muscular Dystrophy Research Centre
Newcastle Upon Tyne, United Kingdom
|
|
| 24 |
NCT04052958 |
Not yet recruiting |
DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1 |
|
- Device: IMT - inspiratory muscle training
|
Interventional
|
Not Applicable |
- Klinikum der Universitaet Muenchen
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Supportive Care
|
- Safety of recurrent inspiratory muscle training
- Efficacy of recurrent inspiratory muscle strength training in 15 patients with type 1 myotonic dystrophy measured by MIP.
- Efficacy of recurrent inspiratory muscle endurance training in 15 patients with type 1 myotonic dystrophy measured by MIP.
- (and 18 more...)
|
45 |
All |
18 Years and older (Adult, Older Adult) |
NCT04052958 |
Version 1.2 (26. Juni 2019) |
DM-IMT |
August 15, 2019 |
December 15, 2020 |
December 15, 2021 |
August 12, 2019 |
August 12, 2019 |
|
- Friedrich-Baur-Institute, Dep. of Neurology Klinikum der Universitaet Muenchen Munich, Germany
Munich, Bavaria, Germany
|
|
| 25 |
NCT03981575 |
Recruiting |
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) |
|
|
Observational
|
|
- Virginia Commonwealth University
- University of Rochester
- The Methodist Hospital System
- (and 6 more...)
|
Other / NIH |
- Observational Model: Other
- Time Perspective: Other
|
- Change in ambulation over 24 months as measured by the 10 meter walk (m/s).
- Change in respiratory function over 24 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
- Percent splicing of DM1-affected splice events
|
650 |
All |
18 Years to 70 Years (Adult, Older Adult) |
NCT03981575 |
HM20014419
DMCRN |
|
January 1, 2019 |
January 1, 2024 |
April 15, 2025 |
June 11, 2019 |
June 11, 2019 |
|
- Standford University
Stanford, California, United States - University of Florida
Gainesville, Florida, United States - University of Iowa
Iowa City, Iowa, United States - (and 11 more...)
|
|
| 26 |
NCT04018820 |
Completed |
Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 |
|
|
Interventional
|
Not Applicable |
- Élise Duchesne
- Fondation du Grand défi Pierre Lavoie
- Université de Sherbrooke
|
Other |
- Intervention Model: Sequential Assignment
- Masking: None (Open Label)
- Primary Purpose: Supportive Care
|
- Changes in maximal isometric muscle strength of the knee extensors
- Changes in maximal isometric muscle strength of the knee flexors
- Changes in maximal isometric muscle strength of the hip flexors
- (and 18 more...)
|
11 |
Male |
30 Years to 65 Years (Adult, Older Adult) |
NCT04018820 |
2017-005 |
|
July 1, 2017 |
June 22, 2018 |
June 22, 2018 |
July 15, 2019 |
July 17, 2019 |
|
- Groupe de recherche interdisciplinaire sur les maladies neuromusculaires
Saguenay, Quebec, Canada
|
|
| 27 |
NCT04001920 |
Completed |
Effects of a Multiple Component Training Program on Muscles in Adults With Myotonic Dystrophy Type 1 |
|
|
Interventional
|
Not Applicable |
- Cynthia Gagnon
- Fondation du Grand défi Pierre Lavoie
- Université de Sherbrooke
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Supportive Care
|
- Change in maximal muscle strength in the knee extensors measured by quantified muscle testing
- Change in 6 minute walking test disance
- Changes in functional capacity measured by the UQAM-YMCA test
- (and 10 more...)
|
11 |
All |
20 Years to 60 Years (Adult) |
NCT04001920 |
2013-008 |
|
July 23, 2013 |
December 13, 2013 |
December 13, 2013 |
June 28, 2019 |
June 28, 2019 |
|
- Groupe de recherche interdisciplinaire sur les maladies neuromusculaires
Saguenay, Quebec, Canada
|
|
| 28 |
NCT03959189 |
Recruiting |
Safety, Tolerability and Pharmacokinetics of ERX-963 in Adults With Myotonic Dystrophy Type 1 |
- Myotonic Dystrophy, Type 1 (DM1)
- Myotonic Dystrophy
|
- Drug: ERX-963
- Drug: Placebo
|
Interventional
|
Phase 1 |
- Expansion Therapeutics, Inc.
|
Industry |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Double (Participant, Investigator)
- Primary Purpose: Treatment
|
- Incidence of Adverse Events, Serious Adverse Events, and drug-related Adverse Events [Safety and Tolerability] after a single dose of ERX-963 vs. placebo
- Assess the effect of ERX-963 on the Stanford Sleepiness Scale score
- Assess the effect of ERX-963 on the Psychomotor Vigilance Task (PVT)
- Assess the effect of ERX-963 on the One-back task
|
12 |
All |
18 Years to 60 Years (Adult) |
NCT03959189 |
ERX-963-001 |
|
June 17, 2019 |
December 2019 |
December 2019 |
May 22, 2019 |
October 9, 2019 |
|
- Stanford Neurosciences Health Center
Palo Alto, California, United States - Sleep Medicine Specialists of South Florida
Miami, Florida, United States - University of Iowa
Iowa City, Iowa, United States
|
|
| 29 |
NCT03589677 |
Completed |
Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life |
- Myotonic Dystrophy Type 1 (DM1)
|
|
Observational
|
|
- IRCCS San Camillo, Venezia, Italy
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Study of quality of life with INQoL test in DM1 patients
- Brain MRI neuroimaging in DM1 patients
- Study of circulating myomiRNAs in DM1 patients before and after rehabilitation
|
50 |
All |
20 Years to 60 Years (Adult) |
NCT03589677 |
IRCCSSanCamillo |
BrainDM |
July 3, 2012 |
June 4, 2015 |
June 4, 2015 |
July 18, 2018 |
July 18, 2018 |
|
|
|
| 30 |
NCT03059264 |
Recruiting |
Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy |
- Congenital Myotonic Dystrophy
|
|
Observational
|
|
- Virginia Commonwealth University
- Neuromuscular Omnicomprehensive Clinical Center, Milan Italy
- University of Western Ontario, Canada, Children's Health Research Institute
|
Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Grip Strength
- Congenital and Childhood Onset Myotonic Dystrophy Health Index (CCMDHI)
- 6-minute walk
- (and 2 more...)
|
150 |
All |
up to 15 Years (Child) |
NCT03059264 |
HM20014211 |
TREAT_CDM |
December 14, 2016 |
December 31, 2019 |
December 31, 2019 |
February 23, 2017 |
October 22, 2018 |
|
- Virginia Commonwealth University
Richmond, Virginia, United States - Pediatric Neuromuscular Research, Children's Hospital - LHSC
London, Ontario, Canada - Centro Clinico Nemo
Milano, Italy
|
|
| 31 |
NCT02858908 |
Completed |
Study of Tideglusib in Adolescent and Adult Patients With Myotonic Dystrophy |
|
|
Interventional
|
Phase 2 |
|
Industry |
- Allocation: Non-Randomized
- Intervention Model: Sequential Assignment
- Masking: Single (Participant)
- Primary Purpose: Treatment
|
- Incidence of Adverse events (AEs), including serious adverse events (SAEs), between baseline to end of study.
|
16 |
All |
12 Years to 45 Years (Child, Adult) |
NCT02858908 |
AMO-02-MD-2-001
2016-000067-16 |
|
July 20, 2016 |
January 2018 |
January 2018 |
August 8, 2016 |
December 27, 2018 |
|
- Newcastle-upon-Tyne Hospitals NHS Trust
Newcastle Upon Tyne, Tyne And Wear, United Kingdom
|
|
| 32 |
NCT00004769 |
Completed |
Study of Muscle Wasting and Altered Metabolism in Patients With Myotonic Dystrophy |
- Myotonic Muscular Dystrophy
|
|
Observational
|
|
|
Other |
- Observational Model: Case Control
- Time Perspective: Prospective
|
- Quantitative myometry (QMT)
|
130 |
All |
21 Years to 60 Years (Adult) |
NCT00004769 |
199/11770
URMC-583
URMC-445 |
|
December 1993 |
March 2000 |
March 2000 |
February 25, 2000 |
January 28, 2013 |
|
|
|
| 33 |
NCT03424460 |
Recruiting |
Venous Thromboembolism in Myotonic Dystrophy Type 1 |
|
- Biological: Haemostasis tests
- Biological: Monocytes and megacaryocytes culture and RNA extraction
- Genetic: RNA extraction
|
Interventional
|
Not Applicable |
- Assistance Publique - Hôpitaux de Paris
- AFM-Téléthon (Funding)
- Recherche Clinique Paris Descartes Necker Cochin Sainte Anne
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Other
|
- Results of thromboelastography in the 3 arms of population n°1
- Results of prothrombin time (PT) and activated partial thromboplastin time (APPT) in the 3 arms of population n°1
- Results of plasma fibrinogen levels in the 3 arms of population n°1
- (and 5 more...)
|
69 |
All |
18 Years and older (Adult, Older Adult) |
NCT03424460 |
K170601J
2017-A01634-49 |
DM1-VTE |
June 11, 2018 |
January 11, 2021 |
May 2021 |
February 7, 2018 |
October 9, 2019 |
|
- Service de Cardiologie - Hôpital Cochin
Paris, Ile De France, France
|
|
| 34 |
NCT02308657 |
Completed |
Multicenter Observational Study of Myotonic Dystrophy Type 1 |
- Myotonic Dystrophy Type 1
|
|
Observational
|
|
- University of Rochester
- University of Florida
- University of Kansas Medical Center
- (and 7 more...)
|
Other / NIH / Industry |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Needle Muscle Biopsy RNA Biomarkers
- Myotonia
- Muscle Strength
- Myotonic Dystrophy Health Index (MDHI)
|
120 |
All |
18 Years to 70 Years (Adult, Older Adult) |
NCT02308657 |
RSRB48991
U54NS048843 |
MOS-DM1/POP |
November 2013 |
July 2017 |
October 2017 |
December 4, 2014 |
October 26, 2017 |
|
- Stanford University
Stanford, California, United States - University of Florida
Gainesville, Florida, United States - University of Kansas Medical Center
Kansas City, Kansas, United States - (and 3 more...)
|
|
| 35 |
NCT02269865 |
Unknown † |
Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy |
- Myotonic Dystrophy Type 1
|
|
Observational
|
|
|
Other |
- Observational Model: Case Control
- Time Perspective: Prospective
|
- Define the neuropsychological abnormalities in Myotonic Dystrophy type 1
|
40 |
All |
8 Years to 17 Years (Child) |
NCT02269865 |
28486 |
CHRI |
December 2013 |
December 2016 |
December 2016 |
October 21, 2014 |
October 21, 2014 |
|
- Lucile Packard Childrens Hospital, Stanford
Stanford, California, United States
|
|
| 36 |
NCT02118779 |
Completed |
Observational Prolonged Trial in Myotonic Dystrophy Type 1 |
- Myotonic Dystrophy Type 1
|
- Behavioral: Behavioural change intervention
|
Interventional
|
Not Applicable |
- Radboud University
- University of Newcastle Upon-Tyne
- Ludwig-Maximilians - University of Munich
- Assistance Publique - Hôpitaux de Paris
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Single (Outcomes Assessor)
- Primary Purpose: Treatment
|
- DM1-Activ
- Six Minute Walk Test
- Myotonic Dystrophy Health Index (MDHI)
- (and 7 more...)
|
255 |
All |
18 Years and older (Adult, Older Adult) |
NCT02118779 |
13/NE/0342
305697
6836 |
OPTIMISTIC |
April 2, 2014 |
March 29, 2016 |
October 17, 2016 |
April 21, 2014 |
July 18, 2017 |
|
- Assistance Publique-Hospitaux de Paris
Paris, France - Friedrich Naur Institute
Munich, Germany - Radboud University Nijmegen Medical Centre
Nijmegen, Netherlands - Newcastle University
Newcastle, United Kingdom
|
|
| 37 |
NCT02315339 |
Terminated |
European Home Mechanical Ventilation Registry |
- Pulmonary Disease, Chronic Obstructive
- Amyotrophic Lateral Sclerosis
- Spinal Cord Injury
- (and 7 more...)
|
|
Observational
|
|
- ResMed
- Clinical Trial Center North Hamburg Germany
- The Clinical Research Institute Munich Germany
|
Industry / Other |
- Observational Model: Cohort
- Time Perspective: Prospective
|
- Determine the mortality rate and the number of hospital readmissions
- Determine the effects of home mechanical ventilation on health-related quality of life using the EQ-5D and the Severe Respiratory Insufficiency questionnaires quality of life
|
37 |
All |
Child, Adult, Older Adult |
NCT02315339 |
CTC11633 |
EHMVR |
August 2014 |
January 2019 |
August 2019 |
December 11, 2014 |
October 26, 2016 |
|
- Lungen Klinik - Chefarzt Abt. Pneumologie Kliniken der StadtKölng GmbH
Cologne, Germany
|
|
| 38 |
NCT01406873 |
Completed
Has Results |
Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type 1 |
|
- Drug: Mexiletine
- Drug: Placebo
|
Interventional
|
Phase 2 |
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Mean Change From Baseline in Ambulation Using the 6 Minute Walk Distance
- Percentage of Participants That Had a Dose Reduction or a Study Drug Withdrawal or Suspension Over 6 Months
- Mean Change From Baseline in Quantitative Measure of Hand Grip Myotonia
- (and 3 more...)
|
42 |
All |
18 Years to 80 Years (Adult, Older Adult) |
NCT01406873 |
3716
Funding Source: FDA/OOPD |
|
June 2011 |
February 2017 |
March 2017 |
August 1, 2011 |
June 19, 2018 |
March 29, 2018 |
- University of Rochester Medical Center, Department of Neurology
Rochester, New York, United States
|
|
| 39 |
NCT03141749 |
Completed |
Venous Thromboembolism in DM1 |
- Venous Thromboembolism
- Pulmonary Embolism
- Deep Vein Thrombosis
- (and 2 more...)
|
|
Observational
|
|
- Institut de Myologie, France
|
Other |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
- Any episode of pulmonary embolism and/or deep vein thrombosis, diagnosed according to 2011 AHA guidelines on venous thromboembolism management
|
2810 |
All |
18 Years and older (Adult, Older Adult) |
NCT03141749 |
Institutmyologie |
DM1-VTE |
January 2000 |
November 2014 |
January 2017 |
May 5, 2017 |
May 9, 2017 |
|
|
|
| 40 |
NCT01421992 |
Completed |
Methylphenidate in Myotonic Dystrophy Type 1 |
|
- Drug: Methylphenidate
- Drug: Placebo
|
Interventional
|
Phase 2
Phase 3 |
|
Other |
- Allocation: Randomized
- Intervention Model: Crossover Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Treatment
|
- Change from baseline of excessive daytime sleepiness
- Change from baseline of POMS, Rand36-Item Health survey and mean sleep latency
|
28 |
All |
18 Years to 65 Years (Adult, Older Adult) |
NCT01421992 |
AFM-12117 |
|
June 2008 |
August 2010 |
September 2010 |
August 23, 2011 |
August 23, 2011 |
|
- Institute of Readaptation in Physical Deficiency
Quebec, Canada
|
|
| 41 |
NCT01136330 |
Completed |
DM1 Heart Registry - DM1 Respiratory Registry |
|
|
Observational
|
|
- Institut de Myologie, France
|
Other |
- Observational Model: Cohort
- Time Perspective: Retrospective
|
|
914 |
All |
18 Years and older (Adult, Older Adult) |
NCT01136330 |
AFM-13286 |
DM1-Heart-R |
May 2010 |
September 2011 |
September 2011 |
June 3, 2010 |
February 20, 2012 |
|
- Pitié Salpêtrière Hospital
Paris, Ile de France, France
|
|
| 42 |
NCT02161835 |
Completed |
Relations Between Myotonia and Fitness |
|
|
Interventional
|
Not Applicable |
- Grete Andersen, MD
- Rigshospitalet, Denmark
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Changes in myotonia
- Changes in fitness
- Changes in creatine Kinase
- Changes in other myotonia
|
9 |
All |
18 Years to 75 Years (Adult, Older Adult) |
NCT02161835 |
H-4-2014-026 |
|
April 2014 |
February 2015 |
February 2015 |
June 12, 2014 |
May 14, 2015 |
|
- Neuromuscular Research Unit, Department of Neurology, Rigshospitalet
Copenhagen, Denmark
|
|
| 43 |
NCT00577577 |
Unknown † |
Safety and Efficacy Study of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) In Myotonic Dystrophy Type 1 |
- Myotonic Dystrophy Type 1
|
- Drug: rhIGF-I/rhIGFBP-3
- Drug: placebo
|
Interventional
|
Phase 2 |
- Insmed Incorporated
- Muscular Dystrophy Association
|
Industry / Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
- Primary Purpose: Supportive Care
|
- Endurance
- Ambulation
- Cognitive function
- (and 7 more...)
|
60 |
All |
21 Years to 65 Years (Adult, Older Adult) |
NCT00577577 |
INSM-110-1001 |
|
December 2007 |
March 2009 |
March 2009 |
December 20, 2007 |
July 23, 2008 |
|
- University of California Irvine Medical Center; MDA, ALS and Neuromuscular Center
Orange, California, United States - University of California, Davis
Sacramento, California, United States - University of Kansas Medical Center
Kansas City, Kansas, United States - (and 9 more...)
|
|
| 44 |
NCT01530841 |
Completed |
Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy |
|
- Device: Nocturnal ventilation
|
Interventional
|
Not Applicable |
- Centre d'Investigation Clinique et Technologique 805
- Adep Assistance
- Philips Respironics
|
Other / Industry |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Single (Participant)
- Primary Purpose: Treatment
|
- arterial PCO2 under ventilation
- daytime arterial PCO2 after launching ventilation.
- Compliance to ventilation
- (and 4 more...)
|
32 |
All |
18 Years and older (Adult, Older Adult) |
NCT01530841 |
2010-A01306-33 |
|
July 2012 |
May 2016 |
May 2016 |
February 10, 2012 |
March 10, 2017 |
|
- Home ventilation Unit , Raymond Poincaré hospital
Garches, Paris Area, France
|
|
| 45 |
NCT00745238 |
Unknown † |
Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy |
|
- Other: withdrawal of non-invasive ventilation
|
Interventional
|
Not Applicable |
- University Hospital, Grenoble
|
Other |
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Supportive Care
|
- To evaluate endothelial dysfunction (as measured by Peripheral arterial tone (PAT)) and its evolution after four weeks withdrawal of non-invasive ventilation (NIV).
- To assess arterial stiffness, systemic inflammation (IL6, TNFα, Leptin, CRP), insulin resistance, DHEA, sleep quality, objective and subjective daytime somnolence and their evolution after four weeks withdrawal of NIV.
|
35 |
All |
18 Years and older (Adult, Older Adult) |
NCT00745238 |
0801 |
|
June 2008 |
December 2012 |
December 2012 |
September 3, 2008 |
August 13, 2012 |
|
- France.Functional Cardio-Respiratory Exploration Laboratory
Grenoble., Isere, France
|
|
| 46 |
NCT02413450 |
Enrolling by invitation |
Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
- Inherited Cardiac Arrythmias
- Long QT Syndrome (LQTS)
- Brugada Syndrome (BrS)
- (and 7 more...)
|
|
Observational
|
|
- Johns Hopkins University
- National Heart, Lung, and Blood Institute (NHLBI)
|
Other / NIH |
- Observational Model: Family-Based
- Time Perspective: Prospective
|
- •Production of cardiomyocytes and engineered tissues from hiPSC-derived cardiomyocytes to be used in mechanistic studies of disease and testing of therapeutic interventions.
|
100 |
All |
18 Years to 85 Years (Adult, Older Adult) |
NCT02413450 |
NA_00085175
1R01HL128743-01A1 |
|
August 2013 |
August 2023 |
August 2023 |
April 10, 2015 |
March 5, 2019 |
|
- Johns Hopkins Medical Institute
Baltimore, Maryland, United States
|
|
| 47 |
NCT00167609 |
Completed |
Efficacy and Safety of DHEA for Myotonic Dystrophy |
|
- Drug: dehydroepiandrosterone 100 and 400 mg
|
Interventional
|
Phase 2
Phase 3 |
- University of Versailles
- Association Française contre les Myopathies (AFM), Paris
- Assistance Publique - Hôpitaux de Paris
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: Double
- Primary Purpose: Treatment
|
- Variation in a Muscle Strength Score between randomization and study week 12
- evaluation of myotonia
- Appeal score
- (and 5 more...)
|
75 |
All |
18 Years to 70 Years (Adult, Older Adult) |
NCT00167609 |
P001108
PS001108 |
|
November 2004 |
|
December 2006 |
September 14, 2005 |
April 6, 2010 |
|
- CHU
Angers, France - CHU
Bordeaux, France - Raymond Poincaré Hospital
Garches, France - (and 7 more...)
|
|
| 48 |
NCT00233519 |
Completed
Has Results |
Effects of SomatoKine (Iplex)Recombinant Human Insulin-like Growth Factor-1/Recombinant Human Insulin-like Growth Factor-binding Protein-3 (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) |
|
|
Interventional
|
Phase 1
Phase 2 |
- University of Rochester
- National Institute of Neurological Disorders and Stroke (NINDS)
- Imsmed Incorporated
|
Other / NIH / Industry |
- Allocation: Non-Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- The Number of Study Participants Who Safely Tolerated Somatokine
|
17 |
All |
21 Years to 60 Years (Adult) |
NCT00233519 |
5 U54 NS048843-03 A |
|
November 2005 |
May 2008 |
May 2008 |
October 5, 2005 |
June 25, 2012 |
February 1, 2010 |
- University of Rochester Medical Center
Rochester, New York, United States
|
|
| 49 |
NCT01225614 |
Active, not recruiting |
Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive |
- Myopathy
- Muscular Weakness
- Respiratory Insufficiency
|
- Device: Bilevel pressure ventilator
|
Interventional
|
Phase 3 |
- Assistance Publique - Hôpitaux de Paris
- Association Française contre les Myopathies (AFM), Paris
|
Other |
- Allocation: Randomized
- Intervention Model: Parallel Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Rate of patients having a complication (number of non expected hospitalization or death) at 5 years.
- Distribution of survival between the randomisation at 5 years
- Number of patients having a formal indication of ventilation
- (and 5 more...)
|
77 |
All |
18 Years and older (Adult, Older Adult) |
NCT01225614 |
P081221
2009-A01023-54 (IDRCB) |
DYVINE |
October 2010 |
July 2018 |
December 2018 |
October 21, 2010 |
November 20, 2017 |
|
- Home ventilation unit and intensive care, centre of neuromuscular disease (Garches Mondor Necker Hendaye), Raymond Poincaré hospital Versailles Saint Quentin University.
Garches, France
|
|
| 50 |
NCT00622453 |
Completed |
Arrhythmias in Myotonic Muscular Dystrophy |
- Muscular Dystrophy
- Arrhythmia
- Sudden Cardiac Death
|
|
Observational
|
|
- Indiana University School of Medicine
- Muscular Dystrophy Association
- Indiana University
|
Other |
- Observational Model: Other
- Time Perspective: Other
|
- Evaluate incidence of arrhythmias in myotonic muscular dystrophy
- Evaluate with diagnostic non-invasive electrocardiogram (ECG)
|
448 |
All |
18 Years and older (Adult, Older Adult) |
NCT00622453 |
9609-31 |
DM1 |
September 1996 |
January 2006 |
February 2015 |
February 25, 2008 |
February 14, 2018 |
|
- Krannert Institute of Cardiology
Indianapolis, Indiana, United States
|
|
| 51 |
NCT00127582 |
Unknown † |
RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy |
- Myotonic Dystrophy
- Sudden Cardiac Death
|
- Procedure: Electrophysiological study
- Device: pacemaker (PM) implant, internal cardiac defibrillator (ICD) implant, loop-recorder implant
|
Interventional
|
Phase 3 |
- Catholic University of the Sacred Heart
- Fondazione Telethon
|
Other |
- Allocation: Non-Randomized
- Intervention Model: Single Group Assignment
- Masking: None (Open Label)
- Primary Purpose: Treatment
|
- Evaluate incidence of: major cardiac events (sudden death
- resuscitated cardiac arrest
- ventricular fibrillation
- (and 6 more...)
|
537 |
All |
18 Years to 70 Years (Adult, Older Adult) |
NCT00127582 |
GUP02067 |
|
January 2003 |
|
|
August 8, 2005 |
August 25, 2005 |
|
- Catholic University of Sacred Heart
Rome, Italy
|
|
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