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Table 1 Disease-specific databases hosted on the NMD Registry platform

From: The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

Registry No. registered individuals (June 2018) No. of clinical centres Reference model Items Registration manner
Duchenne and Becker muscular dystrophy (DMD/BMD) 161 1
TREAT-NMD [4] General clinical features Patient reported
Spinal muscular atrophy (SMA) 560 1
TREAT-NMD [4] General clinical features, treatments Patient reported
Charcot-Marie-Tooth disease (CMT)
CMT surveys
9 Inherited Neuropathy Consortium (INC) of the Rare Disease Research Network, (NCATS, NIH) [32, 33]
Natural history, outcome measures
Patient reported outcomes
Dual reported
Patient reported
Muscle glycogenoses (MGSD) 260
(foreseen 500)
13 European Neuromuscular Centre (ENMC) consensus [41], Euromac network [42] Natural history, outcome measures Clinician reported
Spinal & bulbar muscular atrophy (SBMA) 119
(foreseen 200)
4 ENMC consensus [12, 37] Natural history, outcome measures Dual reported
Transthyretin type-Familial Amyloidotic Polyneuropathy (TTR – FAP) 206
(foreseen 270 + 100 carrier)
10 European TTR-FAP Network (ATTReuNET) [44] Natural history, outcome measures, treatments Dual reported