The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Table 3 Unique patient counts and calculated disease percentages by HCS, and estimates from the medical literature

Total patient count	NCATS		Eversana		Sanford		OHSU		Med lit
Total patient count	4,333,968		*		1,625,685		1,039,213		N/A
Disease	Unique patient count	Percentage (%)	Unique patient count	Percentage (%)	Unique patient count	Percentage (%)	Unique patient count	Percentage (%)	Estimated prevalence
SCD	10,416	0.2400	38,388	0.0340	55	0.0034%	259	0.0250	0.0308% [38]
MD	2763	0.0640	34,956	0.0313	407	0.0250	709	0.0680	0.0769% [38]
CF	2581	0.0600	13,856	0.0120	246	0.0151	567	0.0550	0.0090% [38]
UCD	1487	0.0340	9423	0.0084	58	0.0036	93	0.0090	0.0029% [39]
HHT	1119	0.0260	21,259	0.0190	28	0.0017	341	0.0330	0.0200% [38]
BD	941	0.0220	7,821	0.0070	3	0.0002	145	0.0140	0.0030% [38]
LGS	917	0.0210	42,837	0.0380	229	0.0141	503	0.0480	0.0001% [38]
FSGS	859	0.0200	11,192	0.0100	128	0.0079	153	0.0150	0.0007% [38]
EOE	755	0.0170	55,055	0.0500	581	0.0357	354	0.0340	0.0500% [38]
OI	573	0.0130	5397	0.0050	73	0.0045	122	0.0120	0.0050% [38]
MNGIE	467	0.0110	7144	0.0060	5	0.0003	66	0.0060	0.0010% [41]
Pheo	250	0.0060	15,521	0.0138	19	0.0012	100	0.0100	0.0005% [40]
TA	117	0.0030	1241	0.0011	14	0.0009	24	0.0020	0.0002% [38]

Unique patient counts by disease extracted from each healthcare system database, and estimated disease percentages within each HCS and for the US population using medical literature/published data sources. Unique patient counts which were used to calculate per patient cost and the total disease cost by disease in Figs. 3, 4
SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic telangiectasia, BD Batten disease, LGS Lennox Gastaut syndrome, FSGS focal segmental glomerulosclerosis, EOE eosinophilic esophagitis, OI osteogenesis imperfecta, MNGIE mitochondrial neurogastrointestinal encephalopathy, Pheo pheochromocytoma, TA Takayasu’s arteritis, CMT Charcot Marie Tooth disease, NCATS National Center for Advancing Translational Sciences, OHSU Oregon Health and Science University, Med Lit medical literature/public data sources, N/A not applicable
*Drawn from ~ 195 million patients in the healthcare system database. Total patient count varied by disease, see Table 1

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