Who We Are

The INPDR is an excellent example of global partnerships and collaboration that showcases what can be achieved when multiple, cross-sector stakeholders work together to achieve a common goal.

The INPDR has a governing structure that meets its requirements as a registry and ensures it operates in keeping with our core vision and values. The INPDR is a subsidiary of the INPDA, a global network of non-profit organisations, supporting individuals affected by Niemann-Pick diseases.

The INPDR is a not-for-profit company limited by guarantee.

The INPDR is overseen by an independent Board of Trustees who are responsible for the strategic direction and governance of the INPDR.

Jim, a stalwart of the Niemann-Pick diseases community, had two sons diagnosed with Niemann-Pick type C Disease in the early 1990s. Jim is a former head teacher, founding member and former Trustee of Niemann-Pick UK and original member of the National Niemann-Pick Disease Foundation (NNPDF), in the USA. In 2012, after almost three decades, Jim stepped down from the NPUK board to focus on international collaboration and exchange through the International Niemann-Pick Disease Alliance of which he was president until June 2019 and oversaw the project to establish the INPDR.

Jim’s focus has always been on supporting families, raising awareness and facilitating research. focussing on international collaboration and exchange. Jim has seen the growth of parent involvement and associations’ influence and has been witness to the huge difference people can make when they work together. The INPDR has steadily developed and grown and it now attracting much interest in the rare disease community.

As well as serving as a Trustee for the International Niemann-Pick Disease Registry (INPDR), Toni has held the post of Chief Executive for Niemann-Pick UK since 2005. She is also Trustee and UK representative for the International Niemann-Pick Disease Alliance (INPDA), Chair of the UK LSD Patient Collaborative and a member of the NHS England Metabolic Disorders Clinical Reference Group.

Toni and her husband are parents to three children affected by Niemann-Pick Disease Type C. Although their children have sadly passed away, Toni remains committed to her work on behalf of patients and families affected by Niemann-Pick diseases. Her personal experience assists in bringing understanding and empathy to her role, along with professional skills gained during her career in marketing and human resources.

As Chief Investigator and Coordinator for the €1.2million EU-funded project that established the INPDR, Dr Hiwot has contributed to our progress and growing success since the start.

Dr. Tarek Hiwot is clinical service lead for the regional Inherited Metabolic Disorder service based at University Hospitals of Birmingham, UK. He is also clinical lead for the national adult specialist services of lysosomal storage disorders and Alström syndrome.

Dr Hiwot qualified in Medicine 1988 from Addis Ababa University, Ethiopia, Masters in Biochemistry 1995 and PhD in Molecular Immunology in 2000 from Karolinska Institute, Stockholm, Sweden. He subsequently specialised in chemeical pathology with further sub-speciality in metabolic medicine in the UK.

He has a strong research portfolio including acting as chief and/or principle investigator on many multi-centre clinical trials.

Dr Marie T Vanier (MD, PhD) has been involved with the INPDR since the beginning as a key member of the International Niemann-Pick Disease Alliance (INPDA) and a participant of the original EU funded project.

Dr Vanier received her university degrees and medical training in Lyon, France and Göteborg, Sweden. Alongside her position as Director of Research at the French National Institute of Health and Medical Research (INSERM) she was Head of a laboratory offering diagnostic services for lysosomal and peroxisomal diseases at Lyon University Hospitals for 35 years.

Her laboratory was one of the earliest in Europe to offer enzymatic assays for Niemann-Pick and Krabbe diseases, and the first to develop Niemann-Pick C testing. A significant part of her research work is related to Niemann-Pick disease type C, covering clinical, biochemical/genetic and pathophysiological aspects, as well as collaborating in preclinical therapeutic studies.

Dr. Andrea Dardis obtained a MS degree in Biochemistry and then a PhD in Molecular Biology at the University of Buenos Aires, Argentina. She continued her training at the Metabolic Unit, University of California, San Francisco, USA as a post-doctoral fellow. During her training she was awarded Fellowship of the Lawson Wilkins Pediatric Endocrine Society.

She then moved to Italy where she got a Specialist Degree in Medical Genetics at the University of Genoa. In 2003 she joined the Metabolic Diseases Unit, Pediatric Hospital “Burlo Garofolo”, Trieste, Italy directed by Dr. Bruno Bembi as a Research Scientist.

In 2009 she moved to the Regional Coordinator Centre for Rare Diseases in Udine, Italy, where she became Head of the Laboratory. She is responsible for the “Biobank of ALS, Neuromuscular and Lysosomal Diseases” of the University Hospital of Udine.

Dr. Dardis activities are mainly focused on the biochemical and molecular diagnosis of lysosomal storage diseases, the functional characterization of defective lysosomal enzymes and the study of molecular mechanisms involved in the pathogenesis of lysosomal storage disorders.

The Registry Management Team oversees the day-to-day operations of the Registry and implementation of the Strategic Plan. This includes the IT platform, data management, site operations, regulatory compliance, recruitment, and communications.

Conan is the Chief Executive Officer at the International Niemann-Pick Disease Registry where he aims to harness the power of data to improve outcomes of the patients and families affected by this disease. His background is in epidemiology & real world evidence where he seen first-hand the impact that registries can have on patient care. Conan is passionate about ensuring the Niemann-Pick patient community have a central role in driving the research priorities through the INPDR. Conan’s research interests include health services research and patient reported outcomes.

In his downtime Conan is in the garden or cycling and running through the rolling countryside of Armagh in Ireland.

Having qualified as a paediatric nurse I obtained a Degree in Biochemistry and Genetics and MSc Genetic Counselling. I worked at the Willink Metabolic unit Manchester for 20 years seeing patients with many inborn errors of metabolism.

In 1999 I started as the first Niemann-Pick nurse, funded by NPUK, setting up the national database and supporting families and professionals.

Having retired from full time work for NPUK, I did Consultancy work in the field of NPDs for over 10 years, which included raising awareness to aid quicker diagnosis and contributing to scientific and clinical papers. I am currently leading recruitment as Clinical Research Manager with INPDR.

I am also a Trustee for NPUK and MLD support association UK.

Claire McCann is the INPDR Administrator. In this role, Claire provides administrative support for the INPDR team, including scheduling meetings, minuting meetings and assisting with compiling documents and presentations.  Claire has been with the INPDR since March 2021 and came with a wealth of experience from a wide variety of administrative roles.  Claire is based in County Armagh, Northern Ireland, and currently works remotely from her home interacting with the team through zoom and teams meetings.

 

Shaun Bolton is an Operations Consultant. Shaun knows the importance of a rare disease registry and the positive impact they can have on the lives of patients globally. Shaun was driven to pursue a career in clinical research by his passion of discovering new information and finding new understandings to help improve the lives of others.

Shaun gained his Bachelor’s Degree in Human Psychology at Aston University before obtaining his Master’s Degree in Genomics at University of Birmingham. Shaun also works as a Clinical Research Coordinator in the National Health Service where he gained valuable exposure to the clinical research field.

Shaun lives in Birmingham, UK and in his downtime can either be found on the nearest golf course or dining out.

Solomon has over 7 years of clinical research experience within a wide range of therapeutic areas such as oncology, dermatology, rare diseases, cardiology, infectious diseases, as well as medical devices. He has worked in a variety of roles within clinical research including Clinical Research Associate, Associate Clinical Project Manager, and Project Manager. Solomon enjoys the science of planning and executing clinical trials, and finds joy in bringing new therapeutics to market.

Solomon lives in Buffalo Grove, IL, a few miles outside of Chicago. In his free time, he enjoys spending time with his son, writing children’s books, and travelling. Solomon is also currently working on a Doctorate in Health Sciences degree at Nova Southeastern University.

David Storey is our Data Protection Officer. In this independent governance role, David protects the privacy interests of our global participants along with the reputation of the INPDR.

David is a Certified Information Privacy Manager (CIPM), General Data Protection Regulation Practitioner and a qualified Data Protection Officer (DPO). In addition, he is a qualified Lead Auditor for Information Security Management Systems. Prior to making the successful transition to Privacy and Security, David had a long and distinguished career as an award winning Programme Manager / Managing Consultant specialising in the field of regulated Information Management and Governance.

Living in the South Hams of Devon, when he is not working David is frequently found outside fly fishing for trout, photographing steam railways or more recently, shivering after a bout of cold water swimming.

The Working Group is a consortium of stakeholders who are actively involved in supporting the strategic direction of the INPDR. The Working Group includes clinicians, researchers, patient advocates, industry representatives and members of the INPDR management team.

Due to its multidisciplinary background, the Working Group can provide advice and feedback to help the development of the key materials that are needed for a robust patient registry.

Stakeholder engagement is not limited to our working group.

We engage more broadly with stakeholders through a comprehensive communications strategy using multiple channels to communicate information and ensure transparency about progress towards our aims and objectives. Our stakeholders bring invaluable expertise and experience that support the development and longevity of the INPDR.

The Scientific Advisory Committee (SAC) consists of international clinicians and researchers who have knowledge and expertise in Niemann-Pick diseases, together with representatives of the patient community and industry.

The SAC works alongside the Board of Trustees and Registry Management Team to offer knowledgeable advice on scientific, ethical, and clinical matters, consider data requests and related research proposals, and contribute to the ongoing development of the INPDR.

The INPDA is a global network of non-profit organisations, supporting persons affected by Niemann-Pick Diseases by providing a forum for patient groups and professionals working in the field of NPD.

The INPDR could not have achieved its goals to date without the collaboration and support of the International Niemann- Pick Disease Alliance (INPDA), its partner organisations and its professional patient networks.

If you need care or support, you can find out more about Niemann-Pick Diseases and the closest member group to you by visiting the INPDA website, where you find out more details about patient groups and how you can get involved.