Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale
The R4DNPCCSS is a valid and reliable measure of disease progression demonstrating consistent outcomes with the prespecified 5DNPCCSS endpoint. Arimoclomol significantly slowed disease progression through 12 months as measured by the R4DNPCCSS versus placebo.
Authors
- Paul Harmatz (ORCID: https://orcid.org/0000-0001-5603-2085)
- Rosalia Maria Da Riol
- Stephanie Grünewald (ORCID: https://orcid.org/0000-0003-2861-8200)
- Beth Solomon (ORCID: https://orcid.org/0000-0002-0978-7714)
- Sabine Grønborg (ORCID: https://orcid.org/0000-0002-2113-9023)
- Elizabeth Berry‐Kravis (ORCID: https://orcid.org/0000-0001-7099-1522)
- Eugen Mengel (ORCID: https://orcid.org/0000-0001-8967-2951)
- Esther M. Maier (ORCID: https://orcid.org/0000-0002-4954-4901)
- Agathe Roubertie (ORCID: https://orcid.org/0000-0002-8180-4857)
- Marc C. Patterson (ORCID: https://orcid.org/0000-0002-1116-126X)
- Forbes D. Porter (ORCID: https://orcid.org/0000-0001-9397-0046)
- Anna Tylki‐Szymańska (ORCID: https://orcid.org/0000-0002-8935-1768)
- Lisa A. LaGorio
- Federica Deodato (ORCID: https://orcid.org/0000-0002-1914-6048)
- Julia B. Hennermann (ORCID: https://orcid.org/0000-0003-2639-1233)
- Saikat Santra (ORCID: https://orcid.org/0000-0002-7497-3556)
- Matthias Gautschi (ORCID: https://orcid.org/0000-0003-1358-1759)
- Mireia del Toro (ORCID: https://orcid.org/0000-0002-8163-1853)
- Sven Guenther
- Bénédicte Héron (ORCID: https://orcid.org/0000-0002-7707-4521)
- Travis Mickle
- Christine í Dali
- Louise Himmelstrup
Institutions
- Rush University Medical Center (US)
- National Institutes of Health (US)
- Mayo Clinic (US)
- Inserm (FR)
- Johannes Gutenberg University Mainz (DE)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- University Hospital of Bern (CH)
- Copenhagen University Hospital (DK)
- AdventHealth Celebration (US)
- Rigshospitalet (DK)
- Sorbonne Université (FR)
- Hôpital Armand-Trousseau (FR)
- Centre Hospitalier Universitaire de Montpellier (FR)
- University Medical Center of the Johannes Gutenberg University Mainz (DE)
- Assistance Publique – Hôpitaux de Paris (FR)
- Birmingham Children's Hospital (GB)
- Children's Memorial Health Institute (PL)
- Bambino Gesù Children's Hospital (IT)
- Ospedale Santa Maria della Misericordia di Udine (IT)
- Vall d'Hebron Hospital Universitari (ES)
- UCSF Benioff Children's Hospital (US)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (US)
- MC2 Therapeutics (Denmark) (DK)
- National Institutes of Health Clinical Center (US)
- Rush University (US)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101233
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16