Darren O'Rourke
Question:189. Deputy Darren O'Rourke asked the Minister for Health his plans to provide funding for research into multiple sulfatase deficiency. [15216/22]
View answerWednesday, 23 March 2022
Questions (189)
Written answers
Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.
The Health Research Board (HRB) funding schemes are run as open, competitive calls and all eligible applications are internationally peer-reviewed by experts in the field. Funding for specific conditions is not ring fenced. Therefore, applications in any topic area, including rare diseases, are welcome through any and all HRB grant schemes. I understand from the HRB that since 2011 the HRB has not received any applications for funding relevant to either MSD or mucopolysaccharidosis IVA mutations, with which it is associated, or indeed other lysosomal disorders via any HRB scheme.
The HRB has a long track record of pro-actively supporting rare disease research collaborations. In the last 10 years alone, the HRB has invested €14M in rare disease research. The HRB also funds research outside of Ireland for a number of Health Research Charities in Ireland (HRCI) projects that look at aspects of particularly rare diseases in which there is no Irish research expertise.
The HRB has also recently announced funding for a Clinical Trials Network in Rare Diseases to develop and deliver a high-quality portfolio of investigator-led trials with relevance to health and social care needs in Ireland. This call was open to applications in any thematic area. The HRB approved funding of €7M for seven CTNs, to enable and facilitate clinical trials. The objectives of the Clinical Trials Network-Rare Diseases are to: act as a collaborative hub for trials in rare diseases, facilitate and support the conduct of trials in rare disease and increase the opportunities for patients to access high-quality clinical trials.