News

November 23, 2018 – European Medicines Agency Approval of First Curative Gene Therapy

The European Medicines Agency has approved Spark Therapeutics’ LUXTURNA® (voretigene neparvovec), a One-time Gene Therapy for Inherited Retinal Disease Caused by Confirmed Biallelic RPE65 Mutations. This is the first gene therapy to be approved in both the USA and Europe. The therapy will be marketed in Europe by Novartis, but will not be available for some months as Novartis initiates reimbursement negotiations with member states across Europe.

This therapy is an exmaple of how development of medicines for rare diseases have progressed over the last decade. By gathering all of the stakeholders and working together a transformative therapy has been enabled to come to makrket. There are many more gene therapies expected to come to market over the coming years. Our member organisation, Fighting Blindness, has further details on the therapy.

November 21 2018 – Rare Diseases Ireland attends Oireachtas Joint Health Committee to discuss access to orphan medicines

RDI opened the discussion with a statement detailing the challenges facing rare disease patients around access to innovative treatments and made 3 requests of policy makers: 1) implement a reimbursement system that meets the needs of all patients; 2) introduce genetic services in Ireland that are fit-for-purpose; 3) include patients as decision makers at relevant points along the reimbursement pathway.  RDI was joined by Philip Watt, Chair of the Rare Disease Taskforce; Chair of MRCG and CEO of Cystic Fibrosis Ireland and Derick Mitchell CEO of IPPOSI to answer questions from Committee members. Following the patient organisations, the Department of Health, HSE and National Centre for Pharmacoeconomics attended the Committee to answer further questions on access to orphan medicines. The full proceedings of the meeting may be accessed.

October 2018 – Launch of the Rare Diseases Technoogy Review Committee at the National Centre for Pharmacoeconomics (NCPE)

As recommended in the Natioal Rare Disease Plan (2014-2018) the Rare Diseases Technoogy Review Committee (RDTRC) has been establshed with the aim to facilitate the incorporation of the patient and clinician perspective into an agreed statement which will be provided to the HSE Drugs Group to aid the Drugs Group in it’s reimbursement recommendation to the HSE Leadership Team. The RDTRC is not a decision making forum.

Membership of the Committee includes the Chair, the Clinical Lead for the HSE’s National Clinical Programme for Rare Diseases, five Consultant Physicians with expertise in rare diseases, two pharmacists, one Health Technology Assessor, one representative from the Health Information Quality Authority and two patient representatives. Click these links for a Statement on Rare Disease Technology Review Group and the Terms of Reference.

Events

UPCOMING EVENTS

RDI Members Meeting – May 21 2019 – RDI welcomes all patient-organisation members to join them at our members only meeting to be held in Dublin on 21 May. For further details and to register your attendance please contact advocacy@rdi.ie.

RDI-RTC – May 30 2019 – RDI welcomes all memebrs of the Round Table of Companies to join them at our members only meeting to be held in Dublin on 21 May. For further details and to register your attendance please contact advocacy@rdi.ie.

PAST EVENTS

Rare Disease Research Partnership (RAinDRop) – Apr 4 2019 – The massively important topic of rare disease research was discussed at this workshop deisgned to establish research priorities for the rare disease community in Ireland. Much work was undertaken by many stakeholders, completing surveys, evaluating results, chairing workshops. Thanks to all involved, particularly Dr Suja Somanadhan for her unwavering commitment, and to the HRB. A report detailing the results of the workshop will be made available. 

RDD-2019 – Feb 28 2019 – Thank you very much to everyone who helped make Rare Disease Day 2019 such a success in Ireland. Without all of your efforts and contributions we would not have had the impact that we had. In the run up to Rare Disease Day (Feb 28) our community appeared in the press, on the radio and on TV. Read more about RDD-2019

Round Table of Companies – Nov 22 2018 – On the occasion of our inaugural Round Table of Companies RDI welcomed representatives from 14 companies ranging from start-ups and SMEs to large multi-nationals and included pharmaceuticals, diagnostics and ICT. The group all had a common interest – identification, treatment, and cure of rare diseases.

Avril Daly, Chair of RDI, opened the meeting providing the group with a brief history of RDI culminating in development of the National Rare Disease Plan 2014-2018. Vicky McGrath followed with a brief overview of RDI’s plans for 2019, including details of the purpose of the RDI-RTC, and rules for membership of the RDI-RTC.

ERN Symposium – Oct 23, 2018 – RDI hosted a symposium to update patient organisations on current developemnts with European Reference Networks. The meeting fetaured a presentation from EURORDIS patient advocate, Matt Bolz-Johnson, ERN & Healthcare Adviser. Matt has led the development and delivery of European Reference Networks (ERNs) from EURODIS’ perspective. Following Matt’s presentation there was a panel discussion on ERNs, featuring Matt Bolz Johnson, Prof Mark Little, co-founder and coordinator of ERN-RITA, and Dr Mary Kearney, member of EPAG at ERN-RND.

Rare Disease Symposium – May 3, 2018 – The RD Symposium, hosted at UCD’s O’Brien Centre in Belfield, Dublin, was designed to raise awareness among healthcare professionals, policymakers, and the general public about rare diseases. The symposium explored developments in rare disease research and how far industry has come over recent years with cures and advancements for rare diseases.

Joint North-South Rare Disease Conference – Mar 5, 2018 – The 4th Joint North-South Rare Disease Conference, to celebrate Rare Disease Day and to share news, ideas and information on rare disease issues. The Conference took place in Queen’s University, Belfast. The Conference theme was ‘Nothing about us without us’ and aimed to showcase examples of research (academic, clinical, and social) where patients and families were engaged and involved; what difference it made; and what is happening now and into the future.

Rare Disease Day – Feb 28 2018 – The 11th international Rare Disease Day. On and around this day, hundreds of patient organisations throughout the world held activities to raise awareness of rare diseases. The main goal was to raise awareness for the public, those impacted by rare diseases, and decision makers about rare diseases and how they impact patient’s lives as well as their loved ones. Learn more about events held globally.