EMA confirms recommendation not to renew marketing authorisation for Translarna
The CHMP agreed to re-examine its decision on request of the manufacturer PTC. This took place in January and despite efforts from the manufacturer and patient community the EMA announced on Friday, 26 January 2024 recommendation for non-renewal of authorisation of Translarna. The process found that while there was evidence of benefit from the treatment, it’s not statistically significant. Importantly there was no concerns about the safety of the treatment.
Rare Disease Clinical Trials Conference
https://docs.google.com/forms/d/e/1FAIpQLSfX6gzjUhklikV6MOJxkuKQR9EN0OkkWT8um16rTBoM2Q8xbQ/viewform
Power of Disability - Event for students, by students
This two-day online event will include discussions, presentations and feedback sessions encouraging students with disabilities to be leaders on their own campuses and will build practical skills on self-advocacy and constructive advocacy. Registration is free to attend, but registration is limited so you must book a spot in advance.
Round Up On Research Developments By Condition
Neuromuscular conditions can be difficult to diagnose and manage, so research is vital for families and for quality of life. In this issue, we include a round-up of some research developments that have taken place in recent months
United Nations Officially Designates 7 September As World Duchenne Awareness Day
The adoption of the resolution ‘World Duchenne Awareness Day’ is the UN’s first formal acknowledgment of a day dedicated to a rare condition.
Highlights Of Our Events For Young People And Families Aug - Dec 2023
Hightlights include: Croke Park and Skyline Tour, Family Day at Dublin Zoo, the MDI Science Programme, Condition-specific community gatherings and MDI progress in connecting with people attending neuromuscular clinics.
Newborn babies to be tested for Spinal Muscular Atrophy from next year – a victory for our community!
We are really pleased to share the good news that Spinal Muscular Atrophy (SMA) has been approved for inclusion in Ireland's National Newborn Bloodspot Screening Programme, commonly known as the heel prick test. Approval of SMA is a massive milestone for the community and overall progress of newborn screening in Ireland. It is particularly valuable because new treatments have become available for SMA in recent years with the potential to significantly improve outcomes through earlier diagnosis and treatment.
Green Paper on Disability Reform: A Public Consultation to Reform Disability Payments in Ireland
The Department of Social Protection is exploring changes to disability payments. New proposed additional payments may be categorised based on tiers of disability. A Green Paper on Disability Reform: A Public Consultation to Reform Disability Payments in Ireland has been released. Submissions are invited from individuals and stakeholder organisations, particularly people with disabilities,
Ardonagh Community Trust Awards Muscular Dystrophy Ireland €5,000
Ardonagh Community Trust awards Muscular Dystrophy Ireland €5,000 as part of their community grant scheme.
Reimbursement Approval of Evrysdi® for the Treatment of Spinal Muscular Atrophy
On 1 September the HSE announced that Risdiplam (Evrysdi®) has been approved for reimbursement in Ireland. This makes Risdiplam the third SMA medicine available in Ireland, alongside Zolgensma and Spinraza.