RDI News & Events

Rare Disease News

RDI in the 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.



RDI AGM – October 22nd 2019 – RDI welcomes all patient-organisation members to join them at our AGM to be held in Dublin on 22nd October. For further details and to register your attendance please contact advocacy@rdi.ie.

SEMINAR – BURDEN OF RARE DISEASES IN IRELAND – 2pm, October 22nd 2019 – at Camden Court Hotel, Dublin. Registration required

Data speaks – a picture says a thousand words!

    • What is the burden of rare diseases in Ireland?
    • How do rare diseases affect the lives of our children?
    • What is the impact of living with a rare disease on the affected individual and their family?

RDI-ROUND TABLE OF COMPANIES – Nov 28 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 28 Nov. For further details and to register your attendance please contact advocacy@rdi.ie.