Summary
The aim of this study was to assess the prevalence and the burden of difficult‐to‐treat primary ITP (pITP), defined by the need for another ITP treatment after romiplostim and eltrombopag. ...Adult patients were selected in the prospective, real‐world CARMEN‐France registry up to December 2021. Out of 821 adult patients with pITP, 29 had difficult‐to‐treat ITP (3.5%; 95% confidence interval CI: 2.3%–4.8% in total; 7.6%; 95% CI: 4.9%–10.2% of patients needing ≥2nd line treatment). The 3‐year cumulative incidence of bleeding, infection and thrombosis was 100%, 24.1% and 13.8% respectively. The median cumulative duration of hospital stays was 31 days (median follow‐up: 30.3 months).
Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) ...gene mutations. There is a need to increase the understanding of morbidity and mortality across children to adults diagnosed with ASMD. This observational retrospective survey analysed medical records of patients with ASMD with retrievable data from 27 hospitals in France, diagnosed/followed up between 1.sup.st January 1990 and 31.sup.st December 2020. Eligible records were abstracted to collect demographic, medical/developmental history, and mortality data. Survival outcomes were estimated from birth until death using Kaplan-Meier survival analyses; standardised mortality ratio (SMR) was also explored. A total of 118 medical records of patients with ASMD (type B n = 94, type A n = 15, and type A/B n = 9) were assessed. The majority of patients were males (63.6%); the median range age at diagnosis was 8.0 1.0-18.0 months (type A), 1.0 0-3 year (type A/B), and 5.5 0-73 years (type B). Overall, 30 patients were deceased at the study completion date; the median range age at death for patients with ASMD type A (n = 14) was 1 0-3.6 year, type A/B (n = 6) was 8.5 3.0-30.9 years, and type B (n = 10) was 57.6 3.4-74.1 years. The median 95% confidence interval (CI) survival age from birth in patients with ASMD type A and type A/B was 2.0 1.8-2.7 years and 11.4 5.5-18.5 years, respectively. Survival analysis in ASMD type B was explored using SMR 95% CI analysis (3.5 1.6-5.9), which showed that age-specific deaths in the ASMD type B population were 3.5 times more frequent than those in the general French population. The causes of death were mostly severe progressive neurodegeneration (type A: 16.7%), cancer (type B: 16.7%), or unspecified (across groups: 33.3%). This study illustrated a substantial burden of illness with high mortality rates in patients with ASMD, including adults with ASMD type B, in France.
