Aromatic L-Amino Acid Decarboxylase Deficiency Clinical Trial
— DOPADEFOfficial title:
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)
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.
Status | Recruiting |
Enrollment | 388 |
Est. completion date | November 1, 2024 |
Est. primary completion date | May 1, 2024 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 0 Days to 65 Years |
Eligibility | Inclusion Criteria: 1. 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 2. Absence of cerebral structural abnormality on MRI apart from corpus callosum abnormality, white matter non-specific abnormality or cerebral atrophy 3. Collection of informed consent signed by both parents or legal guardians and by the child if possible or formed consent signed by adult 4. Patient benefiting from a social security scheme exclusion criteria 1. Patient who had already have a neurotransmitter profiling or a measure of AADC enzymatic activity 2. Patient with a clearly defined anoxo-ischemic history 3. Patient with issues in blood collection |
Country | Name | City | State |
---|---|---|---|
France | Angers University Hospital | Angers | |
France | Chu de Toulouse | Toulouse |
Lead Sponsor | Collaborator |
---|---|
University Hospital, Montpellier |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Motor Development Delay | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Motor Development Delay Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Cerebral Palsy | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Cerebral Palsy Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Hypertonia/Hypotonia | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Hypertonia/Hypotonia Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients Movement Disorder | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients Movement Disorder Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Catatonia | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Catatonia Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Dysautonomia | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Dysautonomia Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Epileptic Encephalopathy | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Epileptic Encephalopathy Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Autism Spectrum Disorder | Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Autism Spectrum Disorder Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 | |
Secondary | Considering a potential diagnosis of AADC deficiency obtained in current patient care, available besides this study | Considering a potential diagnosis of AADC deficiency obtained in current patient care, available besides this study Prevalence of abnormal high 3-OMD level will be compared between the different phenotypic groups with Chi2 test. Each phenotypic group will be compared to the pool of the other groups. Odds ratio and 95% confidence interval will be presented. Prevalence of AADC deficiency will be estimated in the population for which the diagnosis of AADC deficiency, realized in current patient care, will be available in the medical record. |
Day 0 |
Status | Clinical Trial | Phase | |
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Recruiting |
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