International Niemann–Pick Disease Alliance

Update #18 on the Orphazyme AIDNPC Clinical Programme

Update #18 on the AIDNPC clinical programme

(arimoclomol in treatment of Niemann-Pick disease type C)

Available for download in English, German, French, Spanish, Italian, and Polish.


Interim information bulletin (following the Dec. 28th call)


  • 001 Study: Status
  • 002 Study: Status and timeline
  • A simplified 5–Domain NPC-CSS scoring tool
  • Orphazyme to present at the WORLDSymposium in San Diego

001 Study: Status

The study was recently completed in May 2017. A total of 36 patients were enrolled across 12 sites in 8 countries.

The primary objective of the 001 study was to characterize the individual patient’s disease progression profile through clinical, biological and quality-of-life measures recorded prospectively, as well as the historic disease information collected from patient medical records.

The 001 Study database has been closed and data analysis is under way. The findings of this natural history study in NPC patients, which has the unique strength of being a prospective study aligned with the design of the 002 Study, will be presented at meetings in the next half year and will serve to set the expectations for findings of the 002 Study. E.g., the results will form the basis for a base line in part of the later analysis of the 002 Study.


002 Study: Status and timeline

The last patient in the 002 study (a phase 2/3 trial) enrolled in May 2017, for a total of 50 patients enrolled and randomized, of which a total of 27 patients rolled over from the 001 study. We expect to have results from this study in the autumn of 2018. As each patient has completed the blinded part of the study, he/she is being offered to enter into the open-label (arimoclomol only) extension of the study.

The following sites are participating in the 002 Study:

Copenhagen, Denmark

Birmingham, UK

Great Ormond St, UK

Mainz, Germany

Münich, Germany

Paris, France

Montpellier, France

Barcelona, Spain

Warsaw, Poland

Udine, Italy

Rome, Italy

Rochester, MN-USA

Oakland, CA-USA

A simplified 5–Domain NPC-CSS scoring tool

Orphazyme has concluded validation of a simplified 5–Domain NPC-CSS scoring tool, with the intention to improve tracking and scoring of NPC patients in the future. The domains in this 5–Domain NPC-CSS scoring tool is ambulation, fine motor skills, swallowing, speech and cognition. This scoring tool is being used in clinical assessment of the patients in the 002 Study.


Orphazyme present at the WORLDSymposium in San Diego

Orphazyme will present and be present at the 14th Annual WORLDSymposiumTM

in San Diego (February 5–9, 2018).


Clinical Design Overview

The graphic below illustrates the design of the 002 Study, including number and timing of patients visits to the sites. An escape route is provided for patients that experience an unacceptable rate of progression of the disease.


We encourage the sharing of above information with the patient community.


Next call:

The next AIDNPC call is schedule for Thursday March 29th 2018 at 15h EDT.

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