Newborn screening for AADC deficiency in Liguria
Official title: Programma di Screening Neonatale Per la Diagnosi Precoce Del Deficit di Decarbossilasi Degli Laminoacidi Aromatici (AADCd) Nella Popolazione Neonatale Ligure Newborn Screening Program for the Early Diagnosis of Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) in the Neonatal Population of Liguria, Italy
Run by Istituto Giannina Gaslini · NCT07877714 · Data updated 2026-11-12
This project tests a newborn screening approach for AADC deficiency in Liguria to see if many newborns can be identified early and referred for care.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Days to 3 Days |
| Sex | All |
| Enrollment | 16000 (estimated) |
| Sponsor | Istituto Giannina Gaslini Academic / other |
| Locations | 10 sites (Genova and 9 other locations) |
| Status | Recruiting |
| Started | August 17, 2023 |
| Main results expected | December 31, 2025 |
| Study ends | December 2026 |
| Registry record updated | October 16, 2026 |
| Trial ID | NCT07877714 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Newborns born at participating birth centers in Liguria whose parents or guardians provide informed consent.
✕Probably not a fit
Newborns without AADC deficiency or those not identified by the screening may not benefit from the testing itself.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to develop a newborn screening protocol for Aromatic L-amino acid decarboxylase (AADC) deficiency in the Liguria region of Italy and to estimate disease incidence there. The team will establish reference values for the biomarker 3-O-methyldopa (3-OMD) and determine practical screening cut-offs. About 16,000 newborns from participating hospitals will be enrolled after informed parental consent, with dried blood spots collected as part of routine screening processes. The study seeks to enable earlier diagnosis and timely access to specialist evaluation and potential treatments, including gene therapy, for affected children. No interventions are described beyond the screening protocol development and biomarker assessment.
Why it matters
Potential benefit: Earlier detection could allow faster specialist referral and timely access to treatment options for babies with AADC deficiency.
How similar studies have gone: Other newborn screening programs for metabolic or neurotransmitter disorders have shown feasibility and potential benefits, but this exact protocol for AADC-D is being established in Liguria.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Newborns born in participating birth centers in the Liguria region, Italy. * Written informed consent provided by a parent or legal caregiver after reading the study information sheet. Exclusion Criteria: * Absence of written informed consent from a parent or legal caregiver.
Where it's running
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Ospedale Galliera
Genova, Italy Recruiting -
IRCCS Policlinico San Martino
Genova, Italy Recruiting -
Ospedale Villa Scassi
Genova, Italy Recruiting -
IRCCS Istituto G. Gaslini
Genova, Italy Recruiting -
Ospedale Evangelico
Genova, Italy Recruiting -
IRCCS Istituto G. Gaslini
Genova, Italy Recruiting
Show 4 more locations
-
Ospedale La Spezia
La Spezia, Italy Recruiting -
Ospedale Lavagna
Lavagna, Italy Recruiting -
Ospedale Sanremo e Ospedale Imperia
Sanremo, Italy Recruiting -
Ospedale di Savona
Savona, Italy Recruiting
Study contacts
- Study coordinator: Pasquale Striano, PhD
- Email: pasqualestriano@gaslini.org
- Phone: +39 010 56362564
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.