Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment-Reference-Cited by-同舟云学术

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Published:2021-09-07 Issue:6 Volume:44 Page:1463-1480
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Mengel Eugen¹^ORCID,Patterson Marc C.²,Da Riol Rosalia M.³,Del Toro Mireia⁴,Deodato Federica⁵,Gautschi Matthias⁶,Grunewald Stephanie⁷,Grønborg Sabine⁸,Harmatz Paul⁹,Héron Bénédicte¹⁰,Maier Esther M.¹¹,Roubertie Agathe¹²,Santra Saikat¹³,Tylki‐Szymanska Anna¹⁴,Day Simon¹⁵,Andreasen Anne Katrine¹⁶,Geist Marie Aavang¹⁶,Havnsøe Torp Petersen Nikolaj¹⁶,Ingemann Linda¹⁶,Hansen Thomas¹⁶,Blaettler Thomas¹⁶,Kirkegaard Thomas¹⁶,Dali Christine¹⁶

Affiliation:

1. SphinCS GmbH Institute of Clinical Science for LSD Hochheim Germany

2. Departments of Neurology, Pediatrics and Medical Genetics Mayo Clinic Rochester Minnesota USA

3. Regional Coordination Center for Rare Diseases Academic Hospital ‘Santa Maria della Misericordia’ Udine Italy

4. Pediatric Neurology Department Vall d'Hebron University Hospital Barcelona Spain

5. Division of Metabolism Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

6. Department of Paediatrics, Division of Endocrinology, Diabetology and Metabolism, and Institute of Clinical Chemistry, Inselspital University Hospital Bern, University of Bern Bern Switzerland

7. Department of Metabolic Medicine Great Ormond Street Hospital, Institute of Child Health, UCL, NIHR Biomedical Research Center London UK

8. Centre for Inherited Metabolic Diseases Copenhagen University Hospital (Rigshospitalet) Copenhagen Denmark

9. Gastroenterology and Hepatology UCSF Benioff Children's Hospital Oakland Oakland California USA

10. Department of Pediatric Neurology, Reference Centre for Lysosomal Diseases University Hospital Armand Trousseau Paris France

11. Department of Inborn Errors of Metabolism University of Munich Children's Hospital Munich Germany

12. Department of Neuropediatrics Centre Hospitalier Universitaire de Montpellier Montpellier France

13. Department of Inherited Metabolic Disorders Birmingham Children's Hospital Birmingham UK

14. Department of Paediatrics, Nutrition and Metabolic Diseases The Children's Memorial Institute Warsaw Poland

15. Biostatistics Clinical Trials Consulting & Training Limited Buckingham UK

16. Orphazyme A/S Copenhagen Denmark

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12428

Reference43 articles.

1. Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study

2. Niemann-Pick disease type C

3. Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

4. Lysosomal storage diseases

5. Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1

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