The INPDR is delighted to be awarded a grant as part of the Ara Parseghian Medical Research Fund at University of Notre Dame, Indiana, USA.
The goal of the Ara Parseghian Medical Research Fund (APMRF) is to raise funds that will support research projects to find a treatment for Niemann-Pick Type C (NPC) disease.
The APMRF aims to support an international research program:
The grant will provide a significant boost to progress in the USA by supporting recruitment, data monitoring and quality, as well as regulatory standards development.
We are so pleased with the collaborative effort involved in the application and the two-year programme, supported by Dr Marc Patterson and the Niemann-Pick Disease Foundation (NNPDF).
You can find out more about the Ara Parseghian Medical Research Fund and this year’s grant awards here.
We’re looking forward to the next steps in the USA and further afield. Watch this space for updates as we progress with the programme.
Last week the INPDR presented a poster at the 10th European Conference on Rare Disease & Orphan Products, organised by EURORDIS Rare Disease Europe and Orphanet.
Originally the conference was meant to be in Stöckholm, Sweden but at the start of the coronavirus pandemic the decision was made to move it online…within two months!
However, the event being online did not deter the enthusiasm of attendees and speakers.
The INPDR attended as 1 of 1,500 delegates from 57 countries – last year the conference was attended by around 860 people but moving it online meant the cost of registration was adjusted accordingly.
The conference brought together a wide spectrum of those in the rare disease community, from patients and families sharing their vital perspective of what it is like to live with a rare disease to policy makers who recognise that patients should be the driving force of rare disease policy across Europe; as well as researchers sharing the results of their crucial work and those offering innovative technologies – everything was covered!
The INPDR presented a poster in Theme 6: The Digital Health Revolution: Hype vs. Reality called A global gateway to a lasting legacy – harnessing digital communications to empower patients to use their experiences to progress research and treatment.
Our poster explores the way we are using digital technology to connect with the Niemann-Pick Disease community across the globe, as well as encourage patients to share their unique experiences, which we hope will in turn empower patients to influence progress for the Niemann-Pick Disease community.
The conference picked up on the Eurordis project Rare 2030 Foresight Study, set to finish in 2021 by outlining a comprehensive set of key recommendations to EU leaders on how to improve rare disease policy.
As well as sharing our work, we also linked up with Niemann-Pick Selbsthilfegruppe Deutschland e.V., a German patient support and advocacy group. It was brilliant to chat and look forward to working with them in the future.
We also spoke to Dr Lucy McKay CEO of Medics 4 Rare Diseases and were really excited to hear about her commitment to educate healthcare professionals in the UK to #Daretothinkrare. Her commitment to empowering patients, improve understanding and enable conversations between patients and those caring for them mirrors the objectives of the INPDR.
In fact Lucy chaired our favourite session, Addressing Health Workforce Challenges and training the New Generation of Rare Disease Experts, which explored workforce planning, the value of expert patients and preserving expertise, knowledge and experience in the medical work force.
Despite the odd technical hitch, the conference was a great opportunity to learn and connect. It’s clear there is a commitment across the rare disease community to collaborate, push for equality and drive progress.
Hopefully, next year there will be an opportunity for the same lively discussions, sharing of ideas and opportunities to explore working together but maybe face to face.
The INPDR is a global registry so we recognise there are differences between the advice and action being taken in different countries with regards to Coronavirus (COVID-19).
As a patient disease registry, we will not be offering additional guidance beyond official advice to our stakeholders in relation to Coronavirus.
Most of our team work remotely from home already so the work we do will continue as appropriate.
We already use teleconferencing, email and telephone calls to keep in touch and do not have any face to face meetings scheduled.
There is a Working Group teleconference meeting scheduled for the beginning of April, which will continue as planned.
Unfortunately, some events and meetings that we would normally attend have been cancelled, postponed or amended to online events.
There may be some members of our community, particularly patients and their families who are worried – caring for someone with complex health needs during a health crisis can be cause for concern.
Therefore, as it is a developing situation, we recommend that you seek information and keep up to date directly from official sources, like government websites and health authorities.
The Niemann-Pick Disease community is very close-knit and supportive – it is a key part of the success of the INPDR – so there are a number of patient support groups across the globe that can be contacted if you’re struggling during these unprecedented times.
The International Niemann-Pick Disease Alliance can signpost you through their website www.inpda.org to the right support where you are.
The INPDR will continue to update the community with details on the work we’re doing and the progress we’re making in improving our global patient disease registry.
We would like to take this opportunity to wish all the patients, families, clinicians, researchers, scientists and industry professionals we work with well.
The INPDR are excited to announce the appointment of a Registry Manager.
Dr Conan Donnelly joins us from the National Cancer Registry Ireland, where he spent nearly three years as Senior Epidemiologist before taking on the role of Research Manager.
As part of the senior management team at the National Cancer Registry, Conan oversaw several significant changes, including the development of corporate and research strategies.
Conan has a strong background in research and management, bringing key skills and experience to the role of Registry Manager and helping the INPDR to further develop its ground-breaking global patient disease registry.
Conan will take the lead on a number of exciting developments that will support successful partnerships and collaborative working for the INPDR, increase the data in the registry and progress research, diagnosis, care and treatment for the Niemann-Pick Disease community.
Welcoming Conan to the role, Toni Mathieson, INPDR Trustee, said:
We are delighted to have Conan join the INPDR team – his knowledge and experience in this field enhances the skills we already have and will greatly assist us in achieving our objectives.
Conan will be the key point of contact for many of our stakeholders and I know that the whole community will join me in welcoming him.
The INPDR is in the process of developing the Patient Reported Database (PRD) part of the Registry, which means exciting changes but also that the current system will be temporarily unavailable to patients already registered.
The new PRD will be more user-friendly so patients and their families can access and navigate the system easily, as well as keep their information up to date. There will also be better functionality, which will make the patient reported data more valuable, relevant and accessible (subject to strict Data Access Guidelines and approval by the Scientific Advisory Committee) to the Niemann-Pick Disease community.
The PRD is expected to be back up and running for existing patients and the families by early November 2019 so watch the website and social media for further updates.
Patients are at the heart of the INPDR and have been since the Registry was created, which is why the INPDR wants to make sure they have the best experience possible when they come to share their data and experiences of living with Niemann-Pick Diseases.
In the meantime, patients and their families who aren’t already signed up to the INPDR can still register their interest so an account can be set up as soon as the new system goes live.
Thank you to patients and their families for their patience and support while we work to harness the potential of the INPDR to make progress for the Niemann-Pick Disease community.
The International Niemann-Pick Disease Registry (INPDR) is seeking a Registry Manager to support further progress of this valuable initiative. If you possess a robust knowledge of healthcare data and its practical applications, have excellent communication skills, an understanding of Information Governance principles, and a passion regarding patient care please apply here.
The INPDR is a single disease-specific registry created by a collaboration of patient groups, health and research professionals with the aim of improving standards of diagnosis, care, and treatment for patients affected by Niemann-Pick diseases on a global basis.