INPDR International Niemann-Pick Disease Registry

02/10/2026

🌍 We’re delighted to announce the opening of INPDR’s first active site on the continent of Africa - in Egypt.

The Medical Genetics Department at Ain Shams University in Cairo, led by Professor Solaf Mohamed ElSayed, with Dr Fatma Ebeid supporting as Study Coordinator, has officially joined the INPDR Clinician Reported Database (CRD).

The team has successfully completed onboarding and training, with registry accounts created and the CRD fully configured. The site is now ready to begin consenting patients and entering data into the registry.

This is an exciting milestone for INPDR. As our first active site in Egypt and on the African continent, Ain Shams University extends the geographical reach of the CRD into Africa and further strengthens our growing international network of clinicians, researchers and patients contributing to our understanding of Niemann-Pick diseases.

A huge thank you to Prof. Solaf Mohamed ElSayed, Dr Fatma Ebeid and the team at Ain Shams University for their commitment and support in reaching this important milestone. We look forward to working together and welcoming patients from Egypt to the registry.

01/10/2026

Today marks the beginning of Niemann-Pick Awareness Month.

October is an important opportunity to come together, raise awareness and recognise everyone around the world whose lives and work are connected to Niemann-Pick diseases.

At INPDR, we are proud to be part of this global community. We continue to extend our support to people and families affected by Niemann-Pick diseases, clinicians, researchers, patient organisations, and our dedicated team and collaborators around the world.

Every person who contributes to greater knowledge and understanding of Niemann-Pick diseases plays a part in moving our global community forward.

This October, we look forward to standing alongside the Niemann-Pick community, sharing knowledge, raising awareness and highlighting the importance of global collaboration.

15/09/2026

Chantelle (Communications and Engagement Coordinator) and Adel (Data Quality Officer) spent an enriching morning at the Royal College of Paediatrics and Child Health’s UKCHRC ‘Real World Data’ networking event.

Some of the other attendees included representatives from Arthritis UK, Action Medical Research, Epilepsy Research Institute and Muscular Dystrophy UK.

Events like these are vital in sharing best practice, forming new relationships, and pushing forward to a more advanced and equitable research space.

15/09/2026

What does it really mean to live with Niemann-Pick disease type C (NPC)?

The INPDR Lived Experience of NPC Study is helping us build a clearer picture of the experiences of people living with NPC, their families and caregivers — from diagnosis and symptoms to treatment, clinical care and the wider impact on everyday life. In this video, we share some of the findings from Phase One of the study and explore what they could mean for the NPC community.

One of the clearest messages from the research is that there is no single NPC experience. Children, adults and caregivers can face very different challenges, reinforcing the importance of care, support and research that reflect individual needs.

A huge thank you to everyone who has contributed their time and experiences to this work. Your participation is helping turn lived experience into evidence that can support better research, care and decision-making.

But we're not stopping here, our work continues — Phase Two will expand the study into six additional languages, helping us develop a more global understanding of life with NPC.

Watch the video to find out more.

08/09/2026

Every person affected by Niemann-Pick diseases has a unique story to tell.

Through INPDR's Patient Reported Database (PRD), patients and caregivers can share their experiences, helping to build a clearer picture of life with Niemann-Pick diseases.

The PRD captures information about symptoms, quality of life, and the challenges faced by individuals and families. Together, these insights help researchers better understand Niemann-Pick diseases, identify unmet needs, and support future research.

Research is strengthened when it reflects not only clinical data, but also the lived experiences of the community.

By sharing your experiences, you can help ensure that the patient and caregiver perspective remains at the heart of progress.

Learn more about the PRD and how you can get involved: https://inpdr.org/patients-and-families/

We all want to see people living with Niemann-Pick disease lead full and positive lives—and as someone with lived experience, you have a vital role to play in making that happen.

03/09/2026

We're pleased to share that Adel Sabet Morsy has been appointed as Registry Data Quality Officer at the INPDR.

In his new role, Adel will lead efforts to strengthen data quality and completeness across the registry, helping to ensure robust datasets are available to support research and reporting.

Reflecting on his appointment, Adel said:

“I’m delighted to be continuing my work with the International Niemann-Pick Disease Registry (INPDR) in my new role as Registry Data Quality Officer.

Having worked with the INPDR for almost four years, I’m excited to build on my experience while taking on greater responsibility for data quality and analysis. I’m particularly looking forward to helping strengthen the quality and completeness of registry data and supporting the preparation of reliable datasets for research and reporting.

It’s a privilege to continue contributing to the INPDR and to support work advancing research and improving our understanding of Niemann-Pick diseases, ultimately benefiting the wider patient community.”

Congratulations, Adel, on your new role. We look forward to the continued impact of your work in advancing registry data quality and supporting the global Niemann-Pick community.

02/09/2026

“...the support and guidance I’ve received through the INPDR has been incredibly empowering...”

At the 2026 National Niemann-Pick Disease Foundation, Inc. Family Support & Medical Conference, Stella Cooley (Indiana University School of Medicine research student), shared how the INPDR is helping her turn a personal connection to Niemann-Pick disease type C into a meaningful research project.

From guidance and collaboration to access to valuable data, the registry is supporting the next generation of researchers contribute to a better understanding of NPC and the challenges faced by patients and families.

Find out more at our website, here: www.inpdr.org

27/08/2026

🔬 How Can the INPDR Support Researchers?

INPDR provides access to high-quality, real-world patient and clinical data that can help advance understanding of Niemann-Pick diseases.

By supporting research into disease progression, unmet needs, clinical outcomes, and emerging therapies, the Registry helps generate evidence that can drive better care and improve outcomes for the global Niemann-Pick community.

INPDR also supports collaboration between researchers, clinicians, patient organisations, and other key stakeholders, creating opportunities to strengthen knowledge and accelerate progress.

Every request to access Registry data undergoes a robust review process to ensure data is used responsibly, ethically, and in the best interests of the community.

Together, we can turn data into knowledge, and knowledge into action.

Learn more about the INPDR and how to request access to Registry data for research at www.inpdr.org

A disease-specific, longitudinal global patient registry, improving care for Niemann-Pick Disease patients across the world.

25/08/2026

A little bit of behind the scenes from yesterday's shoot in Leeds with health psychology researcher Jackson Pountney, as well as stills from the impactful and eye-opening interview we captured...which we hope to share with the broader NPC community soon...

Jackson's PhD "Quality of life in patients with Niemann-Pick disease type C and their carers", which was supervised by Dr. Rebecca Knibb at Aston University, placed a huge emphasis on hearing directly from people living with NPC, their families, and caregivers. The research project was developed to build a clearer picture of how NPC affects everyday life - from the impact of individual symptoms and treatment to experiences of clinical care, family life and the areas where significant unmet needs remain. Hearing Jackson reflect on this work, as well as his hopes for the community in the future, was truly inspirational!

This work was shaped through collaboration with the wider Niemann-Pick community, including support from The International Niemann-Pick Disease Registry (INPDR), the INPDA International Niemann-Pick Disease Alliance, Niemann-Pick UK, and the National Niemann-Pick Disease Foundation, Inc.

We’re delighted to now be able to refer to Jackson as Dr Pountney, following the successful completion of his PhD, and to look back at the important contribution this research made to understanding quality of life within the NPC community. Watch this space as we'll look to share more clips, and the whole interview, asap!

24/08/2026

We sat down with Jackson Pountney today to talk about his PhD, and the impact patients, families, and caregivers had with regards to his NPC Quality of Life Research Project - which was part-funded by INPDR International Niemann-Pick Disease Registry (in collaboration with Niemann-Pick UK, the National Niemann-Pick Disease Foundation, Inc., and the INPDA International Niemann-Pick Disease Alliance).

Thanks again your all your hard work Jackson - we look forward to sharing the interview, in full, over the next week or two...