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Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency

NCT05211609 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 388

Last updated 2022-08-11

No results posted yet for this study

Summary

O-MethyDopa (3-OMD) is a metabolite of the Dopaminergic pathway that accumulates in case of a default in the neurotransmitter biosynthesis due to a key enzyme deficiency: Aromatic L-Amino Acid Decarboxylase (AADC) deficiency. 3-OMD is a validated biomarker specific for this AADC enzyme defect.

The purpose of this study is to assess the prevalence of the elevation of 3-OMD in a predominantly pediatric targeted population with symptoms compatible with AADC deficiency; that will allow us to specify the indications for this screening test according to the clinical symptoms of the patients with the aim, ultimately, of optimizing the diagnosis of AADC deficiency.

Conditions

  • Aromatic L-Amino Acid Decarboxylase Deficiency

Interventions

DIAGNOSTIC_TEST

Plasmatic 3-O-Methyldopa dosage

Plasmatic 3-O-Methyldopa dosage

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
0 Days
Max Age
65 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-05-20
Primary Completion
2024-05-01
Completion
2024-11-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05211609 on ClinicalTrials.gov