Metabolic disease: Patients with rare metabolic diseases who are being treated at the Dublin-based national referral centre for such conditions are to take part in an international clinical trial of a new treatment for the disorder PKU.
PKU - phenylketonuria - is a rare inherited disease which, if left untreated, can cause mental retardation, epilepsy and other serious problems.
It results from a build-up of the substance phenylalanine in the body but can be treated with a low-protein diet. PKU patients cannot eat high-protein foods such as cheese, eggs, milk and meat but instead supplement their diets with artificial protein.
Babies are screened for the condition following the well-known heel-prick test taken shortly after birth.
All such test results taken in Ireland are collated at the National Centre for Inherited Metabolic Disorders (NCIMD) based at the Children's University Hospital, Temple Street.
Other conditions screened for include homocystinuria, galactosaemia and Maple Syrup Urine Disease.
The NCIMD is one of 22 centres internationally taking part in a clinical trial of Phenoptin (tetrahydrobiopterin) for the treatment of mild PKU.
The centre said the drug was "expected to greatly improve the quality of life for individuals who respond to this treatment".
"A significant number of individuals have already enrolled in and completed the first phase of the study successfully at the national centre and the results are coming in. Enrolment is expected to be completed by mid-September," according to the centre's website.
Dr Eileen Treacy, consultant metabolic paediatrician and clinical geneticist at the NCIMD, said the centre would shortly be asking the Health Service Executive to put in place a ring-fenced budget for so-called "orphan diseases", which include the metabolic disorders screened for at Temple Street.
She said the centre hoped to develop a model of shared care throughout the State for such patients and that more resources and specialists would need to be put in place to provide that care.
Some 600 patients with PKU alone are currently being treated at the NCIMD, but this number rises every year as new cases are diagnosed, according to Dr Treacy.
"Our unit is founded on a multi-disciplinary team approach - social worker, psychologist, administrative staff, nurses, dieticians and education of the family and the community.
"We obviously wish to expand our programme with more staffing, more physician staffing to develop an outreach model and the adult services," Dr Treacy said.
"This is our problem, in that all services are centred here and it's a hardship for patients to have to come from all over the country. We really wish to develop an education and outreach model and we are training young doctors to develop expertise in local regions. But we need support.
"We are pushing the HSE soon on this, but what we are saying is that we need commissioning in this country as well for orphan diseases. If our society is committed to giving patients with rare diseases a fair deal, a review of funds should be met."
Funding for the Children's University Hospital and the NCIMD was not budgeted separately, said Dr Treacy.
Adult patients, many of them diagnosed in the 1960s when screening started, continue to be treated at Temple Street, which is a children's hospital.
A review of funding requirements has been carried out independently and is currently being reviewed by the Children's University Hospital. However, Dr Treacy could not discuss further details of that review.
The centre launched a website last week, which Dr Treacy said she hoped would "demystify the area of inborn metabolic diseases both for the general public and for healthcare professionals".
See www.ncimd.ie