Who We Are

Patients are at the heart of the INPDR and working hard behind the scenes are a team passionate about achieving our objectives, as well as a determined global network of experts and advocates.

We have a number of strategies and procedures in place to ensure the INPDR is sustainable, achieves objectives, protects data and continues to work for the benefit of patients.

We are governed by Articles of Association and run by an independent Board of Trustees who are responsible for overseeing the future direction and development of the INPDR.

On a day to day basis, the Registry Management Team is responsible for implementing strategy, ensuring compliance and responding to enquiries, including data requests. The Registry Management Team works closely with a Working Group and specialist Sub Working Groups made up of representatives from patient groups, clinicians, industry and researchers as a panel of experts to encourage collaborative working and best practice.

The Scientific Advisory Committee (SAC) is made up of a panel of experts who advise the Registry Management Team on scientific and clinical matters, consider research requests and provide guidance to the Board of Trustees.

Board of Trustees

Jim Green, Chair

Jim, a stalwart of the Niemann-Pick Disease 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.

Toni Mathieson

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 Disease. 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.

Tarek Hiwot

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.

Marie Vanier MD

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.