Clinical Research Directory

Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population

Aromatic L-amino acid decarboxylase deficiency (AADC-D) is a rare genetic disorder that affects the production of neurotransmitters in the brain and can cause severe neurological and developmental problems. Early diagnosis may allow affected children to be referred promptly for specialist care and evaluation for available treatments, including gene therapy. The purpose of this study is to develop a newborn screening protocol for AADC-D in the neonatal population of Liguria, Italy, and to estimate the incidence of the disease in this population. The study will also establish reference values for 3-O-methyldopa (3-OMD), a biochemical marker used to identify newborns who may have AADC-D, and determine appropriate screening cut-off values. Approximately 16,000 newborns born in participating hospitals in Liguria will be included in the study. After informed consent is obtained from their parents or legal caregivers, blood samples will be collected using dried blood spot cards as part of the existing regional newborn screening procedures. The samples will be analyzed using tandem mass spectrometry to measure 3-OMD levels. Samples with positive screening results will be retested. If the result remains positive, genetic testing of the DDC gene will be performed to confirm the diagnosis. The study will evaluate 3-OMD levels in the neonatal population, establish and periodically refine screening thresholds, and assess the preliminary performance of the screening method. The results are expected to support the development of a reliable newborn screening program for AADC-D in Liguria and facilitate the early identification of affected newborns.

MRI in Pediatric Inherited Neurodegnerative Changes

This study aims to evaluate the diagnostic capability of brain MRI in establishing pattern recognition approach in pediatric inherited neurodegenerative disorders. Therefore, taking into consideration specific MRI findings, we aim to highlight the potential of MRI to predict the diagnosis of pediatric inherited neurodegenerative diseases.