International Niemann–Pick Disease Alliance

AIDNPC – teleconference minutes 26th November

A teleconference was hosted by Orphazyme 26th November 2015, to provide an update to patient organisations regarding the development of Arimoclomol in the AIDNPC programme. These calls will continue monthly – the next scheduled to take place 14th January 2016.

Key points covered:

Status information: The best way to track enrolment status and contact information of individual clinical sites in the AIDNPC programme is to follow the entry for the Observational Study (the ‘001’ study) at (use identifier NCT02435030).

General program information: A web site dedicated to the AIDNPC clinical programme ( has been created for UK patients and has UK Ethics Committee approval. Orphazyme emphasises that the site cannot be promoted to patients outside the UK. However, Orphazyme advises that they are more than willing to aid in providing additional and specific information and support (in any language) to any of the organisations requesting this.

Anonymous patient contact: Permitting direct contact to Orphazyme by e-mail, Orphazyme has set up an e-mail address where patients – on an anonymous basis– can write with specific questions (either personal questions or on behalf of a group of patients). The address is: ‘‘.

Sites now recruiting: The following 8 sites (out of the 16 total) are now active and recruiting patients, and 2 sites are expected to be recruiting very soon:

  • Mainz, Germany
  • Barcelona, Spain
  • London, England
  • Birmingham, England
  • Warsaw, Poland
  • Copenhagen, Denmark
  • Udine, Italy
  • Milan, Italy
  • Rome, Italy (expected this week)
  • Monza, Italy (expected this week)

Enrolment consideration: As was discussed during the conference call, there is an option for patients to enter the therapeutic Interventional Study directly (the ‘002’ Study; also on NCT02612129), without first having been enrolled in the ‘001’ Study.  Orphazyme emphasises that “it is important for patients to keep in mind that enrolment in the AIDNPC programme is competitive. That is, all patients already enrolled in the ‘001’ Study will be the first to be offered enrolment into the ‘002’ Study. After that, and only if there is room for more patients in the ‘002’ Study, will not-already-enrolled patients be able to enrol directly into the ‘002’ Study. However, not all countries are equally fast in approving new clinical studies. Thus, in the countries where the ‘002’ Study will be late in getting local approval, patients waiting for ‘002’ Study to start in such countries risk that patients from other countries could enrol ahead of them, and therefore prevent their own direct enrolment into Study ‘002’. Overall, it could be viewed as an advantage for patients to enrol early into the ‘001’ Study.”

“Participation in the ‘001’ Observational Study provides important information about the disease severity and progression of the disease as well as the appropriateness of the selected assessment tools (e.g., NPC Disease Severity Scores and Quality-of-Life questionnaires). In addition, the ‘001′ Study allows for an important validation of the unique biomarker assays developed specifically for the AIDNPC program. One of the possible outcomes of this biomarker research is the availability of a faster and simpler method in a small blood sample for the initial diagnosis (as compared to the current filipin staining of skin biopsies).”

It was also noted that patients may choose to opt out – of either the Observational Study or the Interventional Study  – at any time. Since the ‘001’ Study involves only current standard-of-care, such patients – having been enrolled in the 001’ Study – would then be able to participate in other clinical studies if eligible to do so.

Compassionate Use: Orphazyme appreciates the strong interest in the possibility for ‘Compassionate Use’ and ‘Named Patient Access’ outside the current protocols for arimoclomol. However, they advise “it is important to keep in mind that while we have seen encouraging results from preclinical studies we still need to obtain results from a properly controlled clinical study to evaluate safety and efficacy in NPC patients. Not until such supportive results are available would it be advisable to embark on a compassionate use program.

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