If you only do one thing on Rare Disease Day make sure you sign up to the INPDR.
There are over 6,000 known rare diseases and 300 million people around the world living with a rare disease.
These numbers show that rare – when we work together – isn’t rare at all.
This Rare Disease Day we are appealing to clinicians and patients in the Niemann-Pick disease community to sign up to share vital data with the INPDR.
Nothing shows the power in numbers like so many people around the world sharing their stories on Rare Disease Day.
For the INPDR, the more clinicians and patients that sign up to the Registry, the greater the difference we can make to people living with Niemann-Pick disease.
The INPDR offers researchers and scientists a greater quantity of data of high quality, which means we can learn and understanding.
We also want to make sure academia and patient advocate can learn more about Niemann-Pick disease, which is why we offer equitable access.
One day we’d like to see a cure for Niemann-Pick disease, and we know our work can contribute to making that happen.
Until then we will keep growing the Registry around the world, stimulating research and pushing for progress for diagnosis, treatment and care for all in the Niemann-Pick community.
The first edition of a quarterly newsletter aimed specifically at professionals working in the area of Niemann-Pick disease has been released.
The newsletter will keep professionals from across the Niemann-Pick disease community up to date with the work of the INPDR.
The INPDR recently published their Strategic Business Plan 2020 – 2022, which mapped out key milestones.
Consequently, through regular newsletters researchers, clinicians and industry representatives will be able to follow and champion our work.
A separate newsletter especially for patients and their families will also be launching in early Spring 2021.
Conan Donnelly, Registry Manager, said:
“Through regular newsletters we can keep the work of the INPDR very much alive in our stakeholders’ minds.
“Needless to say, it’s a great opportunity for our collaborators to see the value of their involvement.
“As for the forthcoming patient-centred newsletter, we’re hoping to hear from patients and their families for their views.
“We want to deliver a newsletter that tells them the things they want to know about the Registry.
“Keeping in touch with the Niemann-Pick community is an integral part of reaching out and opening up the Registry to vital patient data.”
Members of the global Niemann-Pick community can subscribe to our newsletter here.
You can look out for updates across social media channels and contact us with any questions.
The INPDR welcomes Clinical Research Associate (CRA) to boost recruitment in the US.
Following funding from the Ara Parseghian Medical Research Fund (APMRF), the INPDR have appointed Lakeisha Simmons to the role of CRA.
Lakeisha has over 14 years of experience in the field of clinical research. She has worked in a variety of roles including Clinical Research Associate and Study Coordinator so brings a wealth of skills to the role.
Lakeisha has worked on many therapeutic trails such as infectious disease, cardiovascular, oncology and respiratory.
While Lakeisha will be based in Chicago, she will be working with clinical sites to support focussed efforts to enhance and develop recruitment to the Registry across the US.
Dr Conan Donnelly, INPDR Registry Manager, commented:
“It is great to have Lakeisha onboard and we’re grateful for funding from the APMRF to support our project in the US.
“Lakeisha’s appointment marks an important step forward towards registry growth and, ultimately, progress for the global Niemann-Pick disease community.
“I know all our colleagues in the US will join me in welcoming her to the role as we introduce her to the community over the coming weeks.”
Sean Kassen, PhD, Director of the Ara Parseghian Medical Research Fund, added:
“It is the APMRF’s goal to advance NPC research to find a cure, and the Registry is a critical component in therapy development.
We are enthused of the hiring of Lakeisha, and look forward to partnering with her and the INPDR to assist with recruitment to the Registry.”
The role of CRA will see Lakeisha overseeing and monitoring various aspects of recruitment and data collection to support greater participation and data quality, as well as compliance with ethical and scientific standards.
The INPDR releases its ambitious Strategic Business Plan 2020 – 2022 setting targets to continue leading edge work and provide impetus for the future.
The INPDR, a ground-breaking patient-focussed, rare disease-specific global registry, has announced plans to build on progress and drive positive change.
Established in 2013 through the shared vision of patients, health and research professionals, the INDPR collects Clinician Reported and Patient Reported data.
The INPDR aims to improve diagnosis, care and treatment for the global Niemann-Pick community.
Collaborative working is the cornerstone of progress for the INPDR. It has enabled the INPDR to reach key milestones and engender support for its innovative work.
Although the rare disease environment has changed since 2013, the INPDR continues to recognise and respond to unmet needs within the community through support for research and therapeutic development.
Jim Green, Chair of the Board of Trustees, said:
“The INPDR has advanced significantly over the years and being a patient-focussed organisation has been key to that.
“With the publication of our Strategic Business Plan 2020 – 2022, we will secure the future of the INPDR for the benefit of patients, their families and wider Niemann-Pick disease community.
“We are proud to collaborate with global experts in NPD.
“Through our Strategic Business Plan we will grow our network by encouraging patients and clinicians to participate in the INPDR.
“This will ultimately contribute to life changing research.”
Key targets for the INPDR include a focus on the following objectives:
Conan Donnelly, Registry Manager, added:
“The INPDR is built on the strong foundations of the international NPD patient community.
“With a robust governance structure, support from patients and clinicians and an experienced management team, the INPDR is ideally placed to realise its potential as a resource to facilitate research and ultimately improve patient outcomes.”
You can download the full version of the Strategic Business Plan 2020 – 2022 or read it now:
We have an exciting opportunity to hire a US based Clinical Research Associate on a two-year contract.
Following the recent news that the INPDR had been awarded funding from the Ara Parseghian Medical Research Foundation, we are looking to hire a Clinical Research Associate (CRA).
We are looking for an experienced and enthusiastic CRA who would like to be a part of a significant boost to recruitment in the US and the acceleration of research progress.
The successful candidate will have the opportunity to directly contribute to making a difference for the Niemann-Pick and wider rare disease community in the US and across the globe.
The job role will include performing and coordinating all aspects of the clinical monitoring and site management processes in the US in accordance with ICH Good Clinical Practices, FDA guidelines, local regulations, data protection law to ensure development for the International Niemann-Pick Disease Registry.
To find out more or apply for the job visit: https://www.indeed.com/jobs?q=INPDR&l&vjk=1b0fce940aee3c21
The closing date is August 19, 2020.
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.