An observational study in Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), sponsored by Cure CMD. Recruiting at 1 site in United States. Per ClinicalTrials.gov, last updated 2021-08-09.
Sponsored by Cure CMD · Observational
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Among 793 studies in Epilepsy with a site in United States — 162 open to participants now, 195 under way, 17 of them phase 3. Epilepsy · United States.
Among the 793 studies in Epilepsy with a site in United States, this one is the 13th largest by planned enrollment of the 193 observational ones that give a count, is one of 22 that started in 2009, is one of 194 observational ones, reaches primary completion later than 162 of the 192 other live ones, and was the 245th registered.
1,848 studies on the registry are indexed under Epilepsy; 420 are open to participants now.
Browse Epilepsy studies →162 of the 793 studies in Epilepsy with a site in United States are open now. Recruiting first, the newest first:
Cadence Neuroscience · Sites in United States
Ages 7+ · Men only
Duke University · Sites in United States
Ages 18–70
NeuroOne Medical Technologies Corporation · Sites in United States
Rapport Therapeutics Inc. · Sites in United States, Australia, Korea, Republic of
Ages 18–75
Dartmouth-Hitchcock Medical Center · Sites in United States
Ages 13–29
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 283 Epilepsy studies recruiting now, 112 (40%) set no upper age limit and 148 (52%) stop at 75 or younger; 140 take children under 18; 55 take healthy volunteers.
This study: all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
793 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 82 · Phase 2 126 · Phase 3 133 · Phase 4 51
First in 1975; this study’s year is marked. 22 started in 2009.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 4,000 is above the median of 112 across 540 observational studies indexed under Epilepsy.
Median enrollment 40 across the 588 interventional studies, 90 across the 193 observational. Of the 525 that completed or were terminated, 243 (46%) have results posted.
This tab as a report to print or save as PDF → With an account.
295 of 793 have an industry lead sponsor. The 10 most frequent:
Cure CMD is the lead sponsor of 4 studies on the registry; 1 is open to participants now.
Cure CMD has 1 study filed under Epilepsy — fewer than ten, so there is no comparison to draw.
73 of the studies in Epilepsy with a site in United States that are under way reach primary completion within a year, 7 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06132893Phase 3Biohaven Therapeutics Ltd.A Study to Determine if BHV-7000 is Effective and Safe in Adults With Refractory Focal Onset Epilepsy | 2026-12 |
| NCT07010471Phase 3Praxis Precision MedicinesA Clinical Trial for Participants With DEE to Assess Efficacy, Safety, Tolerability, and PK of Relutrigine | 2026-12 |
| NCT07019922Phase 3Praxis Precision MedicinesA Clinical Trial of Elsunersen in Pediatric SCN2A-DEE to Assess Efficacy and Safety | 2026-12 |
| NCT06660394Phase 3Longboard PharmaceuticalsA Phase 3, Placebo-Controlled Study to Investigate LP352 in Children and Adults With Dravet Syndrome (DS) | 2026-12-31 |
| NCT05431595Phase 3M.D. Anderson Cancer CenterManaging Agitated Delirium With Neuroleptics and Anti-Epileptics as a Neuroleptic Sparing Strategy | 2027-02-02 |
Add all 73 to your calendar (.ics) → With an account.
Among the 793 studies in Epilepsy with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required.
The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual.
Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries.
Study hypothesis:
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year observational study to identify care and trend key care parameters and adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The CMDIR registers individuals with and without genetic confirmation who have been given a clinical diagnosis of congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome, or myofibrillar myopathy, through the limb girdle/late onset spectrum.
Identifying care parameters and adverse events in the rare genetic neuromuscular diseases can be difficult. Care is fragmented, genetic confirmation may not be prioritized by the medical community or covered by medical insurance and patients are scattered globally with potential challenges aggregating data across centers. Natural history studies are currently being launched. However, potential biases to participation include recruitment of the less severely affected patients given difficulty traveling secondary to a medically fragile condition. There is currently no treatment for these conditions; though optimizing and standardizing care and care delivery can promote significant gains in quality of life and survival. Identifying disease specific care parameters and correlating those parameters with adverse event rates will not only contribute to the development of evidence based guidelines but inform clinically meaningful outcomes for future clinical trials.
Study hypothesis:
Primary outcome is survival measured from date of birth to date of death. Primary outcome will be analyzed by congenital muscle disease subtype and maximal ambulatory status achieved.
Secondary outcomes include disease specific adverse event rates including rates of hospitalization, rates of antibiotic use, rates of pulmonary infections, pneumothorax, atelectasis, aspiration and adverse complaints including bloating, constipation, chest pain, dyspnea assessed by a validated breathing assessment, vomiting and nausea and difficulty eating. Patient and proxy hospitalization, pneumothorax and atelectasis reports will be confirmed by obtaining hospital discharge summaries. Additional secondary outcomes include ejection fraction (relevance subtype specific), forced vital capacity in liters, weight, Rapid Eye Movement (REM) sleep apnea hypopnea index and mean oxygen saturation during REM and total sleep study, age, gender, type of treatment center location (national referral center, tertiary care hospital, community hospital), gastrostomy tube, total number of fractures and Tscore/Zscore of hip and spine on DEXA scans.
Preliminary studies may focus on specific congenital muscle disease subtypes and use retrospective data collection through registry, survey monkey and telephone interviews to assess adverse event rates over last month and last year to limit recall bias. Prospective enrollment of same study participants over 12 months will assess monthly rates of adverse events and complaints. A preliminary study, CMD PROADE (Patient and Proxy Reported ADverse Event Rates) is planned in 2 congenital muscular dystrophy subtypes: Collagen 6 Myopathy and LAMA 2 Related CMD.
De-identified data from CMDIR will be made available for IRB approved natural history studies in the congenital muscle diseases.
Participants in CMDPROS will be selected from the CMD International Registry (CMDIR) based on the inclusion criteria above.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Alpha 7/Alpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy/MDC1A/Merosin deficient) LMNA Related Muscular Dystrophy (Laminopathy/LaminA/C, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy/RSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular Dystrophy) Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap) Congenital Muscular Dystrophy Not Otherwise Specified (including Merosin Positive) Titin Related LGMD/CMD, LGMD2J Actin Aggregation Myopathy Cap Disease Central Core Disease (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Spheroid Body Myopathy Titin Related Myopathy, Titin Related Dialated Cardiomyopathy, LGMD2J Tubular Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy
Exclusion Criteria:
Charcot Marie Tooth Duchenne/Becker Muscular Dystrophy Facioscapulohumeral Dystrophy/FSHD Kennedy's Disease LGMD-1A (TTID) LGMD-1C (CAV3, Caveloin 3, Caveolinopathy, LQT9, VIP21) LGMD-1D (7q) LGMD-1E (6q23) LGMD-1F (7q32.1-q32.2) LGMD-1G (4q21) LGMD-2A (CAPN3/Calpainopathy) LGMD-2B (DYSF/Dysferlinopathy/Miyoshi Myopathy) LGMD-2C (SGCG) LGMD-2D (SGCA) LGMD-2E (SGCB) LGMD-2F (SGCD) LGMD-2L (AN05/Anoctamin 5) Lipodystrophy Myotonic Dystrophy Oculopharyngeal Muscular Dystrophy Spinal Muscular Atrophy
The congenital muscle diseases include congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome and bridge into the limb girdle/late onset spectrum. For data collection and analysis, subtype specific reports will be generated. True incidence of the congenital muscle diseases is unknown.
Congenital Muscle Disease Patient and Proxy Reported Outcomes
Correlation between genetic and biopsy findings and their relation to phenotypic and adverse event data.
Time frame: 10 years
Started Sep 2009 (actual). Primary completion is estimated for Sep 2029, 240 months after the start.
Of 193 non-industry observational studies under Epilepsy, half reached primary completion within 62 months of starting (the median), counting those still running; a quarter within 33 and three quarters within 179. This study's planned 240 months is above that.
Counting every sponsor, half of 230 studies reached it within 59 months; a quarter within 24 and three quarters within 109.
How these figures are worked out, and which studies are left out of them.
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