Characterisation of Niemann-Pick disease type C
Research type
Research Study
Full 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 signo-symptomatology progression pattern
IRAS ID
182246
Contact name
Stephanie Grunewald
Contact email
Sponsor organisation
Orphazyme ApS
Clinicaltrials.gov Identifier
15/WA/0250, REC: Wales REC 7
Duration of Study in the UK
0 years, 11 months, 3 days
Research summary
Niemmann-Pick type C disease (NPC) is an inherited, rare and neurodegenerative disease. Symptoms can include deterioration of memory and balance, lung and liver failure, delayed motor development, and seizures. The disease usually appears in early childhood, leading to neurological problems that are typically fatal. NPC strykes one in every 150,000 children. There is not available a specific treatment for NP-C, only supportive therapies are available. These include medications to control seizures, abnormal posturing of limbs and tremors; but have had no effect on delaying the neurologic deterioration or progression of the disease.
The aim of this non-therapeutic trial is to obtain knowledge of Niemmann-Pick type C disease (NPC), which may contribute towards the future development of new forms of treatment of the disease. For this, patients medical records, questionnaires, blood tests, skin samples, scan results and the patient’s data related to the disease will be collected from patients. Signs and symptoms of the disease progression in each patient will be assessed in addition to the safety of the existing treatment that enrolled patients are taking for the disease.
The study design does not include a pharmaceutical form of an active substance or placebo being tested.At least 40 patients are expected to participate in this study, which will be taking place at 15 to 20 sites across approximately 6 to 11 countries in Europe. Male and female patients aged from 2 years old to 18 years and 11 months old with genetically confirmed NP-C and with at least one NP-C related neurological symptom at the time of screening will participate in the study. The study duration for the patient will be 24 to 28 weeks.Following this study, eligible patients will be invited to participate in a planned Phase II prospective interventional therapeutic study evaluating safety and efficacy of a new investigational medicinal product.
REC name
Wales REC 7
REC reference
15/WA/0250
Date of REC Opinion
7 Aug 2015
REC opinion
Further Information Favourable Opinion