Status:
UNKNOWN
Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency
Lead Sponsor:
University Hospital, Montpellier
Conditions:
Aromatic L-Amino Acid Decarboxylase Deficiency
Eligibility:
All Genders
Up to 65 years
Phase:
NA
Brief 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 Decarbo...
Detailed 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 Decarb...
Eligibility Criteria
Inclusion
- Inclusion Criteria:
- Patient with a neurodevelopmental disorder and presenting one of the following criteria:
- Motor development delay
- Cerebral palsy
- Hypotonia / hypertonia
- Movement disorders: Oculogyric crises, dystonia, hypokinesia / bradykinesia
- Catatonia
- Dysautonomia: ptosis, excessive sweating, intermittent hypothermia, nasal congestion, fluctuating blood pressure
- Epileptic encephalopathy
- Autism spectrum disorder
- Absence of cerebral structural abnormality on MRI apart from corpus callosum abnormality, white matter non-specific abnormality or cerebral atrophy
- Collection of informed consent signed by both parents or legal guardians and by the child if possible or formed consent signed by adult
- Patient benefiting from a social security scheme
- exclusion criteria
- Patient who had already have a neurotransmitter profiling or a measure of AADC enzymatic activity
- Patient with a clearly defined anoxo-ischemic history
- Patient with issues in blood collection
Exclusion
Key Trial Info
Start Date :
May 20 2022
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
November 1 2024
Estimated Enrollment :
388 Patients enrolled
Trial Details
Trial ID
NCT05211609
Start Date
May 20 2022
End Date
November 1 2024
Last Update
August 11 2022
Active Locations (2)
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1
Angers University Hospital
Angers, France, 49933
2
Chu de Toulouse
Toulouse, France, 31059