The Real-World Experience of Niemann-Pick C Patients and Caregivers

• Research type

  Research Study

• Full title

  The Real-World Experience of Niemann-Pick C Patients and their Caregivers

• IRAS ID

  350386

• Contact name

  Shaun Bolton

• Contact email

  shaun.bolton@inpdr.org

• Sponsor organisation

  International Niemann Pick Disease Registry

• Duration of Study in the UK

  0 years, 8 months, 24 days

• Research summary

  Niemann-Pick Type C (NPC) is a rare inherited neurodegenerative disease that affects infants, children and adults. It is caused by an accumulation of lipids (fats) in the liver, brain and spleen. The age of onset and rate of disease progression can vary greatly from person to person; for example, some children develop neurological symptoms early in childhood, whereas others may remain symptom free for many years.

  This study will investigate the quality of life and real-world experience of people with Niemann-Pick type C disease (NPC) and their caregivers. This will include exploring the use of supplementary / alternative medicines (those not part of standard clinical care for NPC). It will also investigate the symptom and treatment experiences of people with NPC and their caregivers, with a focus on:

  -Understanding the symptom burden 
  -Exploring the impact of any symptomatic treatments received 
  -Gathering insights into their views on current and future treatments, including ‘alternative’ therapies 

  Aim
  Investigate the real-world experience of people with Niemann-Pick disease type C (NPC) and their caregivers.

  Objectives

  • Document the met and unmet need among patients affected by NPC related to the disease, its management and its impact on daily life
  • Document quality of life among patients affected by NPC and their caregivers
  • Investigate the validity of the NPC Quality of Life Questionnaire and NPC patient reported disease severity scale.
  • Analyse the factors associated with quality of life and unmet need in NPC including disease characteristics (clinical form, subtype, time since diagnosis), clinical characteristics (duration on therapy, treatment regimen, symptomatic therapies), patient demographics (sex, age, country)
  • Investigate perspectives on current and future treatments, including ‘alternative’ therapies
  • Investigate patients clinical care experience
  • Investigate patient and caregiver awareness of current clinical guidelines
  

• REC name

  Wales REC 1

• REC reference

  24/WA/0359

• Date of REC Opinion

  20 Dec 2024

• REC opinion

  Further Information Favourable Opinion