International Niemann–Pick Disease Alliance
INPDA is actively engaged in a number of initiatives and campaigns which have a wide-spread impact on a global scale .
These include:
Facilitating an update of the Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C – This project is being led by Dr. Tarekegn Hiwot in conjunction with a team of global clinical experts in NPC, which aims to present recommendations that reflect the best available evidence and expert agreement on how to diagnose, treat, and monitor NPC. The Guidelines aim to standardise care, reduce variability in clinical practice, and improve outcomes.
Niemann-Pick Disease Suspicion Index (NPC-SI) – this is a web-based tool being developed to assist clinicians in identifying the potential risk score for NPC based upon symptom presentation. This tool is particularly useful for a condition like NPC where early symptoms (like an enlarged spleen, coordination issues, or developmental delays) may go unrecognised for years. The NPC-SI can be found at NPC-SI.org.
An investigation into the real-world experience of patients with Niemann-Pick disease type C (NPC) and their carers. The purpose of the study is to gain insight into the challenges faced by individuals affected by NPC, including the impact of NPC on their quality of life, the effects of symptoms, experiences with treatment and clinical care, and unmet needs. The survey is open to those 18 and older, fluent in English and has either a confirmed diagnosis of NPC or is the carer of an individual with a confirmed diagnosis of NPC.
Global Access Challenges for Niemann-Pick Therapies: Insights from an INPDA Community Survey. This survey of INPDA members was conducted in 2024 to assess the access environment for Niemann-Pick Disease therapies, expanded access programs, and clinical trials. The results highlight the disparities that exist in access based upon geographic location. You can see a poster of the results of the survey here.