Aromatic L-Amino Acid Decarboxylase DeficiencyDOPADEFNCT05211609
Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency
A study testing Plasmatic 3-O-Methyldopa dosage in people with Aromatic L-Amino Acid Decarboxylase Deficiency, run by University Hospital, Montpellier at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 days to 65 years
- Conditions the study is for
- Aromatic L-Amino Acid Decarboxylase Deficiency
- What is being tested?
- Plasmatic 3-O-Methyldopa dosage
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 388 participants
- Where
- 2 sitesFrance
- Study dates
- 20 May 2022to 1 Nov 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 days to 65 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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
Show all 12Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
2 sites in 1 country.
France2 sites, 2 recruiting
- Recruiting
Angers University Hospital
Angers, 49933
Magalie BARTH, MD
- Recruiting
Chu de Toulouse
Toulouse, 31059
Claude CANCES, MD
About this study
Official 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.
Read the 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 Decarboxylase (AADC) deficiency. 3-OMD is a validated biomarker specific for this AADC enzyme defect. (Chen et al., 2014, Chien et al., 2016, Brennenstuhl et al., 2019).
To date, the prevalence of the elevation of 3-OMD has been studied in neonatal screening of healthy newborns and in patients with a previously proven AADC deficiency but not in a target population. (Chen et al., 2014, Chien et al., 2016, Brennenstuhl et al., 2019, Kubaski et al., 2021). The prevalence of elevated plasma 3-OMD, a biomarker of cerebral monoamine neurotransmitters deficiency, has never been evaluated in a targeted population.
The AADC enzyme is encoded by the DDC (Dopa-Decarboxylase) gene. Pathogenic bi-allelic variations of the DDC gene are responsible for a dysfunction of the AADC enzyme, leading to a decrease in the synthesis of biogenic amine neurotransmitters (Dopamine, Serotonin).
AADC deficiency is a rare recessive genetic disease, with less than 200 cases published in the literature. The clinical signs begin in childhood are varied, with a broad phenotypic spectrum, reflecting the deficiency in biogenic amine neurotransmitters: motor impairment, neurodevelopmental abnormalities (delay in acquisitions, cognitive disorders and / or disorders of social interactions), dysautonomia, epileptic seizures. However, there are no specific clinical symptoms and evoking this diagnosis is tricky (Pearson et al., 2020).
A confirmation of the diagnosis requires at least 2 positive tests among: (i) analysis of the profile of cerebrospinal fluid (CSF) neurotransmitters by lumbar puncture (ii) enzymatic study of AADC (iii) genetic study of the DDC gene (Wassenberg et al. al., 2017). The cerebrospinal fluid (CSF) analysis is an invasive examination and the enzymatic study is performed in only a few laboratories. Therefore, it is largely admitted that this pathology is underdiagnosed (Brun et al, 2010, Brennenstuhl et al, 2019, Hyland et al. 2019).
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 investigators 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.
Targeted screening of the disease via the measuring of the level of 3-OMD would allow for :
- an early diagnosis
- an adequate and pertinent therapeutic strategy, while avoiding inappropriate treatment due to lack of diagnosis, which can go as far as targeted treatment by gene therapy
- genetic counseling to families since there is a 25% risk of recurrence
Although the level of 3-OMD is a validated and specific biomarker of AADC deficiency, the blood assay is performed in very few laboratories in Europe. This assay was recently developed in the Biochemistry laboratory of the Montpellier University Hospital (Pr Cristol, Dr Badiou).
- Being tested
- Plasmatic 3-O-Methyldopa dosage
- Medical subject headings
- Aromatic amino acid decarboxylase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Plasmatic 3-O-Methyldopa dosageDiagnostic test
Plasmatic 3-O-Methyldopa dosage
| Study group | Role | What they receive |
|---|---|---|
| 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) Receives: Diagnostic Test: Plasmatic 3-O-Methyldopa dosage |
What is being measured
The primary outcome is the main question the study is designed to answer.
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)
Measured: 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
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
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.
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jan 2022
- Study start20 May 2022
- Primary completion1 May 2024 (estimated)
- Study completion1 Nov 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Aromatic L-Amino Acid Decarboxylase DeficiencyStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 388 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Agathe ROUBERTIE, PH, Principal investigator, a-roubertie@chu-montpellier.fr
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05211609
- Sponsor's protocol ID
- 7953 R21_0521
- Acronym
- DOPADEF
- Status last verified
- Aug 2022
- First submitted
- 17 Dec 2021
- Last updated
- 11 Aug 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Aug 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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)
- ClinicalTrials.gov ID
- NCT05211609
- Acronym / sponsor ID
- DOPADEF / 7953 R21_0521
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 388 participants (estimated)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 20 May 2022 (actual)
- Primary completion
- 1 May 2024 (estimated)
- Study completion
- 1 Nov 2024 (estimated)
- First posted
- 27 Jan 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 Decarboxylase (AADC) deficiency. 3-OMD is a validated biomarker specific for this AADC enzyme defect. (Chen et al., 2014, Chien et al., 2016, Brennenstuhl et al., 2019).
To date, the prevalence of the elevation of 3-OMD has been studied in neonatal screening of healthy newborns and in patients with a previously proven AADC deficiency but not in a target population. (Chen et al., 2014, Chien et al., 2016, Brennenstuhl et al., 2019, Kubaski et al., 2021). The prevalence of elevated plasma 3-OMD, a biomarker of cerebral monoamine neurotransmitters deficiency, has never been evaluated in a targeted population.
The AADC enzyme is encoded by the DDC (Dopa-Decarboxylase) gene. Pathogenic bi-allelic variations of the DDC gene are responsible for a dysfunction of the AADC enzyme, leading to a decrease in the synthesis of biogenic amine neurotransmitters (Dopamine, Serotonin).
AADC deficiency is a rare recessive genetic disease, with less than 200 cases published in the literature. The clinical signs begin in childhood are varied, with a broad phenotypic spectrum, reflecting the deficiency in biogenic amine neurotransmitters: motor impairment, neurodevelopmental abnormalities (delay in acquisitions, cognitive disorders and / or disorders of social interactions), dysautonomia, epileptic seizures. However, there are no specific clinical symptoms and evoking this diagnosis is tricky (Pearson et al., 2020).
A confirmation of the diagnosis requires at least 2 positive tests among: (i) analysis of the profile of cerebrospinal fluid (CSF) neurotransmitters by lumbar puncture (ii) enzymatic study of AADC (iii) genetic study of the DDC gene (Wassenberg et al. al., 2017). The cerebrospinal fluid (CSF) analysis is an invasive examination and the enzymatic study is performed in only a few laboratories. Therefore, it is largely admitted that this pathology is underdiagnosed (Brun et al, 2010, Brennenstuhl et al, 2019, Hyland et al. 2019).
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 investigators 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.
Targeted screening of the disease via the measuring of the level of 3-OMD would allow for :
- an early diagnosis
- an adequate and pertinent therapeutic strategy, while avoiding inappropriate treatment due to lack of diagnosis, which can go as far as targeted treatment by gene therapy
- genetic counseling to families since there is a 25% risk of recurrence
Although the level of 3-OMD is a validated and specific biomarker of AADC deficiency, the blood assay is performed in very few laboratories in Europe. This assay was recently developed in the Biochemistry laboratory of the Montpellier University Hospital (Pr Cristol, Dr Badiou).
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Plasmatic 3-O-Methyldopa Level | Experimental | Diagnostic Test: Plasmatic 3-O-Methyldopa dosagePrevalence 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) |
Who may qualify
- Ages
- 0 days to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (12 listed)
- Patient with a neurodevelopmental disorder and presenting one of the following criteria:
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Plasmatic 3-O-Methyldopa dosagePlasmatic 3-O-Methyldopa dosage | Diagnostic test | Plasmatic 3-O-Methyldopa Level |
Primary outcome
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)
Time frame: Day 0
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)
9 secondary outcomes
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Motor Development Delay
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Cerebral Palsy
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Hypertonia/Hypotonia
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients Movement Disorder
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Catatonia
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Dysautonomia
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Epileptic Encephalopathy
Time frame: Day 0
Comparison of the frequency of high 3-OMD LEVEL among the phenotype of symptomatology of the patients with Autism Spectrum Disorder
Time frame: Day 0
Considering a potential diagnosis of AADC deficiency obtained in current patient care, available besides this study
Time frame: Day 0
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Aug 2022.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Agathe ROUBERTIE, PH principal investigator
a-roubertie@chu-montpellier.fr
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Plasmatic 3-O-Methyldopa dosage in people with Aromatic L-Amino Acid Decarboxylase Deficiency, run by University Hospital, Montpellier at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 12 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 11 Aug 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Agathe ROUBERTIE, PH (0467336343, a-roubertie@chu-montpellier.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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) (time frame: Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Aug 2022.