Photo courtesy of Delegate Dr. Carlos Zorrinho
Júlio César Rocha, Professor at NOVA Medical School, participated in the meeting "Policy Roundtable and Launch of Cross-party MEP Alliance on PKU" hosted at the European Parliament on March 3rd 2020. The purpose of this meeting was to kick-start a global strategy to standardise the diagnosis, treatment and follow-up of patients with Phenylketonuria (PKU) in all Member States.
The European Society for Phenylketonuria and Allied Disorders (ESPKU) is responsible for structuring the panel of experts responsible for revising the European PKU Guidelines. As a member of this panel, Júlio César Rocha was invited by the President of ESPKU to represent Portugal in the cross-party MEP Alliance on PKU.
PKU is a rare Inherited Metabolic Disease. In order to optimize the prognosis of patients with PKU it is imperative:
(i) to be able to perform diagnosis in the neonatal period;
(ii) to have granted access to all available treatments; and
(iii) to guarantee the continuous and lifelong clinical assistance with chance of using all therapeutic solutions and support.
Neonatal diagnosis and early treatment implementation avoids severe neurological damage (mental retardation) as well as other complications frequently seen in untreated individuals. However, this model has not always been implemented in other European countries.
Júlio César Rocha emphasizes the "good example of Portugal" where a neonatal screening is available since 1979 and total reimbursement of pharmacological and nutritional treatments available is guaranteed, as long as the treatments are prescribed by recognized Treatment Centres.
The European Work Group on PKU Disease created during this meeting aims to raise awareness among members of the European Parliament in order to standardise policies for PKU.