Congenital Muscle Disease Study of Patient and Family Reported Medical Information

NCT01403402 | Recruiting

• 1 other identifier: CMDPROS1
• Study Type: observational
• Target: 4,000
• Locations: 1 country
• Sites: 1

Brief Summary

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:

1. 1.To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.
2. 2.To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

Conditions

Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency; Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy); Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations); Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan); Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy); Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C)); Alpha-Dystroglycanopathy (Fukuyama CMD); Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I)); Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K)); Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M)); Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N)); Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O)); Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T)); Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U)); Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related); Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB)); Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS)); Choline Kinase B Receptor - CHKB; Collagen VI Related Disorders; Collagen XII Related Disorders; Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive); Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID); Congenital Muscular Dystrophy With Joint Hyperlaxity; Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1; Emery-Dreifuss Muscular Dystrophy; GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement; LMNA Related Disorders; Merosin Deficient CMD (Full or Partial); Nesprin Related MD (SYNE1); SELENON Related Disorders (Previously Known as SEPN1); SELENON Related Myopathy (Aka SEPN1); Telethonin CMD; Congenital Myasthenic Syndrome; Limb-Girdle Muscular Dystrophy; LGMDD01 - DNAJB6 (Formerly LGMD1D); LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant); LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G); LGMDR08 - TRIM Related (Formerly LGMD2H); LGMDR09 - FKRP Related (Formerly LGMD2I); LGMDR10 - Titin (TTN) Related (Formerly LGMD2J); LGMDR11 - POMT1 Related (Formerly LGMD2K); LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M); LGMDR14 - POMT2 Related (Formerly LGMD2N); LGMDR15 - POMGnT1 Related (Formerly LGMD2O); LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P); LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q); LGMDR18 - TRAPPC11 Related (Formerly LGMD2S); LGMDR19 - GMPPB Related (Formerly LGMD2T); LGMDR20 - ISPD Related (Formerly LGMD2U); LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive); LGMDR23 - LAMA2 Related; LGMDR24 - POMGnT2 Related

Keywords

Congenital Muscular Dystrophy; Congenital Myopathy; Neuromuscular Diseases; Musculoskeletal Diseases

Outcome Measures

Primary Outcomes (1)

• Congenital Muscle Disease Patient and Proxy Reported Outcomes

  Correlation between genetic and biopsy findings and their relation to phenotypic and adverse event data.

  10 years

Study Arms (1)

Congenital Muscle Disease

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants in CMDPROS will be selected from the CMD International Registry (CMDIR) based on the inclusion criteria above.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Cure CMD: lead

Study Sites (1)

Congenital Muscle Disease International Registry (www.cmdir.org)

Lakewood, California, 90712, United States

RECRUITING

Related Publications (14)

• Bonnemann CG, Rutkowski A, Mercuri E, Muntoni F; CMD Outcomes Consortium. 173rd ENMC International Workshop: congenital muscular dystrophy outcome measures 5-7 March 2010, Naarden, The Netherlands. Neuromuscul Disord. 2011 Jul;21(7):513-22. doi: 10.1016/j.nmd.2011.04.004. Epub 2011 Jun 8. No abstract available.

  PMID: 21641800 BACKGROUND

• Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Beroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R; International Standard of Care Committee for Congenital Muscular Dystrophy. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15.

  PMID: 21078917 BACKGROUND

• Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E. Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2001 Jan 22 [updated 2012 Aug 23]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1291/

  PMID: 20301468 BACKGROUND

• Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6.

  PMID: 20207543 BACKGROUND

• Sewry CA, Jimenez-Mallebrera C, Muntoni F. Congenital myopathies. Curr Opin Neurol. 2008 Oct;21(5):569-75. doi: 10.1097/WCO.0b013e32830f93c7.

  PMID: 18769251 BACKGROUND

• Klein A, Clement E, Mercuri E, Muntoni F. Differential diagnosis of congenital muscular dystrophies. Eur J Paediatr Neurol. 2008 Sep;12(5):371-7. doi: 10.1016/j.ejpn.2007.10.002. Epub 2007 Dec 3.

  PMID: 18588847 BACKGROUND

• Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18.

  PMID: 17878207 BACKGROUND

• Ramelli GP, Aloysius A, King C, Davis T, Muntoni F. Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome. Dev Med Child Neurol. 2007 May;49(5):367-71. doi: 10.1111/j.1469-8749.2007.00367.x.

  PMID: 17489811 BACKGROUND

• Mellies U, Dohna-Schwake C, Voit T. Respiratory function assessment and intervention in neuromuscular disorders. Curr Opin Neurol. 2005 Oct;18(5):543-7. doi: 10.1097/01.wco.0000180662.03544.5f.

  PMID: 16155437 BACKGROUND

• Takaso M, Nakazawa T, Imura T, Okada T, Ueno M, Saito W, Takahashi K, Yamazaki M, Ohtori S. Surgical correction of spinal deformity in patients with congenital muscular dystrophy. J Orthop Sci. 2010 Jul;15(4):493-501. doi: 10.1007/s00776-010-1486-9. Epub 2010 Aug 19.

  PMID: 20721717 BACKGROUND

• Schara U, Kress W, Bonnemann CG, Breitbach-Faller N, Korenke CG, Schreiber G, Stoetter M, Ferreiro A, von der Hagen M. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol. 2008 May;12(3):224-30. doi: 10.1016/j.ejpn.2007.08.011. Epub 2007 Oct 22.

  PMID: 17951086 BACKGROUND

• Nadeau A, Kinali M, Main M, Jimenez-Mallebrera C, Aloysius A, Clement E, North B, Manzur AY, Robb SA, Mercuri E, Muntoni F. Natural history of Ullrich congenital muscular dystrophy. Neurology. 2009 Jul 7;73(1):25-31. doi: 10.1212/WNL.0b013e3181aae851.

  PMID: 19564581 BACKGROUND

• van den Engel-Hoek L, Erasmus CE, de Swart BJ, Sie LT, de Groot IJ. Neonatal swallowing assessment and practical recommendations for oral feeding in a girl with a severe congenital myopathy. J Child Neurol. 2011 Aug;26(8):1041-4. doi: 10.1177/0883073811402071. Epub 2011 May 3.

  PMID: 21540369 BACKGROUND

• Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I. Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscul Disord. 2011 Jul;21(7):489-93. doi: 10.1016/j.nmd.2011.03.004. Epub 2011 Apr 21.

  PMID: 21514153 BACKGROUND

Related Links

• Related Info

MeSH Terms

Conditions

Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency; Epilepsy; Walker-Warburg Syndrome; Wieacker syndrome; Intellectual Disability; Muscular Dystrophy, Emery-Dreifuss; Myasthenic Syndromes, Congenital; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Limb-Girdle, Type 2G; Muscular Dystrophy, Limb-Girdle, Type 2M; Myotonia Congenita; Neuromuscular Diseases; Musculoskeletal Diseases

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cobblestone Lissencephaly; Lissencephaly; Malformations of Cortical Development, Group II; Malformations of Cortical Development; Nervous System Malformations; Eye Diseases, Hereditary; Eye Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophies; Genetic Diseases, Inborn; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders; Muscular Disorders, Atrophic; Muscular Diseases; Genetic Diseases, X-Linked; Neuromuscular Junction Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases

Study Officials

• Gustavo Dziewczapolski, PhD

  CureCMD, CMDIR

  STUDY CHAIR

Central Study Contacts

Rachel Alvarez

CONTACT

counselor@cmdir.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 26, 2011
• First Posted: July 27, 2011
• Study Start: September 1, 2009
• Primary Completion (Estimated): September 1, 2029
• Study Completion (Estimated): September 1, 2029
• Last Updated: August 9, 2021

Record last verified: 2021-08

Locations

US (1)