NeurologyNBS3OMD22NCT07877714
Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population
An observational study of Neurology and Aromatic Amino Acid Decarboxylase Deficiency, run by Istituto Giannina Gaslini at 10 sites in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 0 to 3 days
- Conditions the study is for
- Neurology, Aromatic Amino Acid Decarboxylase Deficiency, Pediatric Neurological Disorder
- How many people
- 16,000 participants
- Where
- 10 sitesItaly
- Study dates
- 17 Aug 2023to Dec 2026
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 3 days
- All sexes
- No healthy volunteers
- Child
Study population: The study population will consist of approximately 16,000 newborns born at participating birth centers in the Liguria region, Italy. Newborns whose parents or legal caregivers have read the study information sheet and provided written informed consent will be eligible for inclusion. Dried blood spot samples will be collected as part of the regional newborn screening program to measure 3-O-methyldopa (3-OMD) levels and identify newborns who may have aromatic L-amino acid decarboxylase deficiency (AADC-D). Positive screening results will undergo repeat testing and, if confirmed, genetic testing of the DDC gene.
Who may be able to join
- 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.
Who cannot join
- Absence of written informed consent from a parent or legal caregiver.
Trial locations and contacts
10 sites in 1 country. Contact the study team or a site near you to ask about taking part.
10 sites in 1 country
Italy10 sites, 10 recruiting
- Recruiting
Ospedale Galliera
Genova, 16128
Massimo Mazzella, MD, +39 010 56321, massimo.mazzella@galliera.it
- Recruiting
IRCCS Policlinico San Martino
Genova, 16132
Cesare Arioni, MD, +39 010 555 2462, cesare.arioni@hsanmartino.it
- Recruiting
Ospedale Villa Scassi
Genova, 16143
Stefano Macciò, MD, +39 010 849 2277, stefano.maccio@asl3.liguria.it
- Recruiting
IRCCS Istituto G. Gaslini
Genova, 16147
Pasquale Striano, PhD, +39 010 56362564, pasqualestriano@gaslini.org
- Recruiting
Ospedale Evangelico
Genova, 16158
Mirella De Rosa, MD, +39 010 55221, mirella.derosa@oeige.org
- Recruiting
IRCCS Istituto G. Gaslini
Genova, 176147
Luca Antonio Ramenghi, Professor, +39 01052362218, lucaramenghi@gaslini.org
- Recruiting
Ospedale La Spezia
La Spezia, 19121
Franca Corona, MD, +39 0187 533444, mariafranca.corona@asl5.liguria.it
- Recruiting
Ospedale Lavagna
Lavagna, 16033
Andrea Gazzolo, MD, +39 0185-329644, andrea.gazzolo@asl4.liguria.it
- Recruiting
Ospedale Sanremo e Ospedale Imperia
Sanremo, 18038
Riccardo Borea, MD, +39 0183537374, r.borea@asl1.liguria.it
- Recruiting
Ospedale di Savona
Savona, 17100
Alberto Gaiero, MD, +39 0198404910, a.gaiero@asl2.liguria.it
About this study
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
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.
Read more
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.
- Medical subject headings
- Aromatic amino acid decarboxylase deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Development of an Analytical and Post-Analytical Newborn Screening Protocol for Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D)
Establishment of an analytical and post-analytical protocol for newborn screening of AADC-D using 3-O-methyldopa (3-OMD) measurement in dried blood spot samples by tandem mass spectrometry.
Measured: Two years
Incidence of Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) in the Neonatal Population of Liguria, Italy
Estimation of the incidence of AADC-D based on the number of newborns with genetically confirmed AADC-D identified through screening, relative to the total number of newborns screened.
Measured: Two years.
Secondary outcomes (2)
Establishment of Neonatal 3-O-Methyldopa (3-OMD) Reference Values and Screening Cut-off Values
Determination of reference values for 3-OMD in the neonatal population and optimization of screening cut-off values to reduce the recall rate to below 1%
Measured: 2 years
Development of Second-Tier and Confirmatory Biochemical Testing Methods for AADC-D
Development of second-tier analytical methods to improve the positive predictive value of newborn screening and biochemical confirmatory methods using liquid chromatography-tandem mass spectrometry (LC-MS/MS) on plasma and urine samples.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2026
- Study start17 Aug 2023
- Primary completion31 Dec 2025
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NeurologyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 16,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07877714
- Sponsor's protocol ID
- NBS3OMD22 (13064)
- Acronym
- NBS3OMD22
- Status last verified
- Oct 2026
- First submitted
- 9 Oct 2026
- Last updated
- 16 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No