Metadata
- Name
- Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency
- Repository
- ClinicalTrials.gov
- Identifier
- clinicaltrials:NCT05211609
- Description
- 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. - Data or Study Types
- clinical trial
- Source Organization
- Unknown
- Access Conditions
- available
- Year
- 2021
- Access Hyperlink
- https://clinicaltrials.gov/ct2/show/NCT05211609
Distributions
- Encoding Format: HTML ; URL: https://clinicaltrials.gov/ct2/show/results/NCT05211609