Clinical Trial: A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Sig

Brief Summary:

This is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data.

Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.


Detailed Summary:
Sponsor: Orphazyme

Current Primary Outcome:

  • NP-C clinical disease severity [ Time Frame: at week 0 and week 24-28 ]
    Change in NP-C Clinical Severity scale
  • Quality of life questionnaire (EQ-5D-Y) [ Time Frame: at week 0 and week 24-28 ]
    Change in the Quality of life
  • Ultrasonographic evaluation of liver and spleen [ Time Frame: at week 0 and week 24-28 ]
    Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
  • Oxysterol [ Time Frame: at week 0 and week 24-28 ]
    Change in Oxysterol concentrations
  • NPC clinical symptoms [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC clinical symptoms
  • NPC protein [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC protein concentrations


Original Primary Outcome:

  • NP-C clinical disease severity [ Time Frame: at week 0 and week 24-28 ]
    Change in NP-C Clinical Severity scale
  • Quality of life questionnaire (EQ-5D-Y) [ Time Frame: at week 0 and week 24-28 ]
    Change in the Quality of life
  • CNS changes (MRI and MRS) [ Time Frame: at week 0 and week 24-28 ]
    Changes in the central nervous system (CNS) structure and function (assessed by magnetic resonance imaging [MRI] and magnetic resonance spectroscopy [MRS]);
  • Ultrasonographic evaluation of liver and spleen [ Time Frame: at week 0 and week 24-28 ]
    Changes in the size and/or characteristics of the liver and spleen (assessed by ultrasound).
  • Oxysterol [ Time Frame: at week 0 and week 24-28 ]
    Change in Oxysterol concentrations
  • NPC clinical symptoms [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC clinical symptoms
  • NPC protein [ Time Frame: at week 0 and week 24-28 ]
    Change in NPC protein concentrations


Current Secondary Outcome: Safety Parameters [ Time Frame: at week 0 and week 24-28 ]

Adverse events (AEs) (disease related and treatment related), haematology, clinical chemistry, physical examination, vital signs and electrocardiogram (ECG).


Original Secondary Outcome: Same as current

Information By: Orphazyme

Dates:
Date Received: April 22, 2015
Date Started: September 2015
Date Completion:
Last Updated: May 17, 2017
Last Verified: May 2017