Trial · NCT07877714
Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population
NCT07877714, Recruiting, Istituto Giannina Gaslini
3 sourcestrials-2026-11-12-0.5.0
Cite this record
ConductScience Library. Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population. Trials, record NCT07877714. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT07877714
On this page
Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population
- NCT number
- NCT07877714
- Status
- Recruiting
- Enrollment
- 16,000 participants, estimated
- Lead sponsor
- Istituto Giannina Gaslini
- Conditions
- Neurology, Aromatic Amino Acid Decarboxylase Deficiency, Pediatric Neurological Disorder
- First posted
- 2026-10-16
- Last updated
- 2026-10-16
Source ClinicalTrials.gov
Registered outcomes4
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Development of an Analytical and Post-Analytical Newborn Screening Protocol for Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) | Two years | 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. |
| Primary | Incidence of Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) in the Neonatal Population of Liguria, Italy | Two years. | 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. |
| Secondary | Establishment of Neonatal 3-O-Methyldopa (3-OMD) Reference Values and Screening Cut-off Values | 2 years | 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% |
| Secondary | Development of Second-Tier and Confirmatory Biochemical Testing Methods for AADC-D | 2 years | 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. |
Source ClinicalTrials.gov
Outcomes0
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
None in this release.
Results by group0
Each measurement the trial posted, group by group, in the words and numbers it posted.
None in this release.
Participant flow0
How many started, completed or left each group, period by period.
None in this release.
Adverse events0
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
None in this release.
Adverse event totals0
The totals the trial posted for each group.
None in this release.
Papers0
The papers the trial lists on ClinicalTrials.gov.
None in this release.
Grants0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
None in this release.
Trial comparisons0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
None in this release.
Tests0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
None in this release.
Data dates
The day each source was copied for this release.
Sources 3
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ClinicalTrials.govNo license stated
- NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ClinicalTrials.govnone stated
- NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this trial from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/trials/v1/NCT07877714
GET https://conductscience.org/api/trials/v1/NCT07877714/registered