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

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

Registry	No. registered individuals (June 2018)	No. of clinical centres	Reference model	Items	Registration manner
Duchenne and Becker muscular dystrophy (DMD/BMD)	161	1 (Curator)	TREAT-NMD [4]	General clinical features	Patient reported
Spinal muscular atrophy (SMA)	560	1 (Curator)	TREAT-NMD [4]	General clinical features, treatments	Patient reported
Charcot-Marie-Tooth disease (CMT) -------------------- CMT surveys	721 -------------------- 306	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