Acid sphingomyelinase deficiency in France: a retrospective survival study.

Autor: Mauhin W; Internal Medicine, Reference Center for Lysosomal Diseases (CRML), GH Diaconesses Croix Saint-Simon, Paris, France., Guffon N; Reference Center for Inherited Metabolic Diseases, Hospices Civils de Lyon, Bron, France., Vanier MT; Laboratory Gillet-Mérieux, Centre de Biologie Et de Pathologie Est, INSERM U820, Hospices Civils de Lyon, Bron, France., Froissart R; Biochemical and Molecular Biology Department, Centre de Biologie Et de Pathologie Est, Hospices Civils de Lyon, Bron, France., Cano A; Paediatric Neurology, Reference Center for Inherited Metabolic Diseases, CHU La Timone Enfants, Marseille, France., Douillard C; Endocrinology, Diabetology, Metabolism Department, Reference Centre for Inherited Metabolic Diseases, Lille University Hospital, Lille, France., Lavigne C; Internal Medicine and Clinical Immunology, Competence Centre for Inherited Metabolic Diseases, Angers University Hospital, Angers, France., Héron B; Pediatric Neurology, Reference Center for Lysosomal Diseases, Armand Trousseau-La Roche Guyon Hospital, Assistance Publique-Hôpitaux de Paris, Fédération Hospitalo-Universitaire, Sorbonne-Université, I2-D2, Paris, France., Belmatoug N; Reference Center for Lysosomal Diseases, Beaujon Hospital, Assistance Publique Hôpitaux de Paris Nord, Université Paris Cité, Paris, France., Uzunhan Y; Reference Center for Rare Pulmonary Diseases, Avicenne Hospital, Université Sorbonne Paris Nord, INSERM U1272, Assistance Publique-Hôpitaux de Paris, PneumologyBobigny, France., Lacombe D; Medical Genetics Unit, University Hospital of Bordeaux, INSERM U1211, Bordeaux, France., Levade T; Cancer Research Center of Toulouse (CRCT) and Clinical Biochemistry Laboratory, Reference Center for Inherited Metabolic Diseases, INSERM UMR1037 Paul Sabatier University Federative Institute of Biology, CHU Toulouse, Toulouse, France., Duvivier A; Sanofi, Gentilly, France., Pulikottil-Jacob R; Sanofi, Reading, UK., Laredo F; Sanofi, São Paulo, Brazil., Pichard S; Reference Center for Inherited Metabolic Diseases, Hôpital Necker Enfants Malades, Paris, 75015, France., Lidove O; Internal Medicine, Reference Center for Lysosomal Diseases (CRML), GH Diaconesses Croix Saint-Simon, Paris, France. OLidove@hopital-dcss.org.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 05; Vol. 19 (1), pp. 289. Date of Electronic Publication: 2024 Aug 05.
DOI: 10.1186/s13023-024-03234-6
Abstrakt: Background: 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.
Methods: This observational retrospective survey analysed medical records of patients with ASMD with retrievable data from 27 hospitals in France, diagnosed/followed up between 1 st January 1990 and 31 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.
Results: 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%).
Conclusions: This study illustrated a substantial burden of illness with high mortality rates in patients with ASMD, including adults with ASMD type B, in France.
(© 2024. The Author(s).)
Databáze: MEDLINE
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