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 ]
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