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

NCT05211609 | Unknown

• 1 other identifier: 7953 R21_0521
• Study Type: interventional
• Target: 388
• Locations: 1 country
• Sites: 2

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 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

Outcome Measures

Primary Outcomes (1)

• change of plasmatic 3-OMD level beyond 25% of reference value, by age group (0 - 30 days old, 31 - 365 days old, 1 - 10 years old, > 10 years old)

  The prevalence of high 3-OMD level, with 95% confidence interval, will be estimated in the specific population with the frequency of patients with high plasmatic 3-OMD level, over 25% of normal levels defined by age. days old, 31 - 365 days old, 1 - 10 years old, \> 10 years old)

  Day 0

Secondary Outcomes (9)

• Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Motor Development Delay

  Day 0

• Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Cerebral Palsy

  Day 0

• Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Hypertonia/Hypotonia

  Day 0

• Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients Movement Disorder

  Day 0

• Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Catatonia

  Day 0

Study Arms (1)

Plasmatic 3-O-Methyldopa Level

EXPERIMENTAL

Prevalence of High Plasmatic 3-O-Methyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency (Aromatic L-Amino Acid Decarboxylase)

Diagnostic Test: Plasmatic 3-O-Methyldopa dosage

Interventions

Plasmatic 3-O-Methyldopa dosage DIAGNOSTIC_TEST

Plasmatic 3-O-Methyldopa dosage

Plasmatic 3-O-Methyldopa Level

Eligibility Criteria

• Age: 0 Days - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (2)

Angers University Hospital

Angers, 49933, France

RECRUITING

Chu de Toulouse

Toulouse, 31059, France

RECRUITING

MeSH Terms

Conditions

Aromatic amino acid decarboxylase deficiency

Study Officials

• Agathe ROUBERTIE, PH

  a-roubertie@chu-montpellier.fr

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Agathe ROUBERTIE, PH

CONTACT

0467336343; a-roubertie@chu-montpellier.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 17, 2021
• First Posted: January 27, 2022
• Study Start: May 20, 2022
• Primary Completion: May 1, 2024
• Study Completion: November 1, 2024
• Last Updated: August 11, 2022

Record last verified: 2022-08

Locations

FR (2)