What are patient Registries?
Registries are databases about individuals who are affected by a specific condition.
Registry Information is confidential and any data is stored after patients’ approval and written consent.
Muscular Dystrophy is a group of rare disorders, Egyptian researchers are working hard to find a cure for muscular dystrophy.
Registries accelerate research into new therapies for neuromuscular diseases (NMDs)
Registries keep registered patients informed about research results, such as new treatments for NMDs
Help gain more knowledge about how many people have a certain type of muscular dystrophy, where those people are, and how the conditions progress over time
Developed by voluntary efforts in collaboration with TREAT-NMD Newcastle University, UK in 2013, to develop a platform for Muscular Dystrophy dataset in Egypt. To our knowledge, the ENR is the first registry in the Eastern Mediterranean region dedicated to hereditary muscle disorders. The ENR holds the core data set for 2,048 genetically confirmed patients registered from Egypt and North Africa; (1445 DMD, 455 LGMD, 22 GNE myopathy, 64 FSHD, 30 DM, 12 CMS, and 20 others). In the last eight years, the ENR participated in more than twenty pharmaceutical and academic data enquires and took part in two global projects; 1) Pilot study for DMD core data set implementation, and 2) the “LGMD Dataset Working Group study” to develop the core data set for global LGMD registries. The ENR collaborated in six international studies, four were published in international journals, and two are still ongoing. Currently, the ENR is directed by the Myo-Care National Foundation.Ref.
1- “The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations”. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. PMID: 25604253; PMCID: PMC4405042.
2- “Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database”. J Neuromuscul Dis. 2017;4(4):293-306.
doi: 10.3233/JND-170280. PMID: 29125504; PMCID: PMC5701764.
3-“Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.” Orphanet journal of rare diseases vol. 13,1 155. 5 Sep. 2018, doi:10.1186/s13023-018-0889-0