Rett SyndromeRETTNCT04014985
Patients With RETT Syndrome
A study testing An extensive biological assessment in people with Rett Syndrome, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
Trial summary
It was proposed to the French Association of Rett Syndrome (AFSR) to perform an extensive biological assessment in a series of 100 girls with Rett's syndrome and carriers of a mutation in the MECP2 gene in order to confirm or confirm to reverse the abnormalities identified previously and possibly, to highlight new… Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- Rett Syndrome
- What is being tested?
- An extensive biological assessment
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 78 participants
- Where
- 1 siteFrance
- Study dates
- 24 Jun 2019to 5 Apr 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 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- People with Rett syndrome related to MECP2 gene mutation
- Aged under 18 years old.
- Regularly followed as part of their illness by Prof. Bahi-Buisson in Necker or Pr Milh in Marseille.
- Whose state of health justifies a blood test (dosage of one or more anti-epileptics, recommended annual phosphocalcic balance, pre-therapeutic assessment before introduction of a new molecule ...)
- Whose at least one parent (or legal representative) has signed the consent
- Patient fasting for 6 hours at the time of sampling.
Who cannot join
- Contraindication to a balance sheet
- Absence of consent of the legal representatives
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Study of Biological Parameters in 100 Girls With RETT Syndrome
It was proposed to the French Association of Rett Syndrome (AFSR) to perform an extensive biological assessment in a series of 100 girls with Rett's syndrome and carriers of a mutation in the MECP2 gene in order to confirm or confirm to reverse the abnormalities identified previously and possibly, to highlight new biomarkers of the pathology. The analysis will focus on classical hematological criteria, iron markers, endocrine assays, lipid quantification and markers of inflammation. At the end of the project, each family will receive the complete biological assessment carried out on their daughter which will represent a direct benefit of the implication in this clinical research project.
Read the detailed description
The MECP2 (Methyl-CpG binding protein) gene, located on the X X28 chromosome, encodes a heterochromatin nuclear protein. Mecp2 is preferentially found in neurons at a postmitotic stage where it promotes brain development. Its ability to fix methylated DNA and contribute to the formation of a transcriptional repression complex attributes this protein to a crucial role in the control of gene expression. However, until today, its exact role is not known. In humans, mutations in the MECP2 gene are at the origin of neurological diseases, the main one being Rett's syndrome (RTT-MIM # 312750) where a mutation of MECP2 is found in 95% of cases. This dominant pathology linked to the X chromosome has a prevalence of 1/10000 to 1/15000 births and affects mostly girls. The course of the pathology is characterized by a cessation of development between 6 and 18 months after birth. Patients present a set of characteristic signs including regression of acquired abilities, manual stereotyping, loss of language, behavioral disorders and severe intellectual disability. In their attempt to better understand the pathology, many laboratories are currently trying to identify abnormal biological parameters in patients that are easy to identify in a non-invasive or minimally invasive way in order to indirectly evaluate the progression of the pathology and to identify biochemical disorders amenable to direct pharmacological intervention.
In autumn 2015, several factors were identified as deregulated in model mice or RTT patients (Rett syndrome). They could be related to the severity of the disease and indicators of its progression. Among these we can mention:
- major structural damage to red blood cells;
- Inflammation demonstrated and challenged ;
- high oxidative stress markers; lipid deregulation and in particular cholesterol abnormalities;
- a deficiency of the signaling pathway of insulin and IGF-1.
- Conditions
- Rett Syndrome
- Being tested
- An extensive biological assessment
- Medical subject headings
- Rett Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
An extensive biological assessmentOther
To study the morphology of red blood cells, the markers of oxidative stress and the signaling pathway of IFGF1.
| Study group | Role | What they receive |
|---|---|---|
| Girls with RETT syndrome | Other | 100 girls over 18 years old with RETT syndrome Receives: Other: An extensive biological assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comparison of red blood cell morphology
Identification of abnormal red blood cells
Measured: 1 day
Comparison of oxydative stress markers
Identification of abnormally high cytokine levels
Measured: 1 day
Comparison of cholesterol levels
Identification of hight cholesterol levels
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Jul 2019
- Study start24 Jun 2019
- Primary completion5 Apr 2024
- Study completion5 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- 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
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 78 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Mathieu Milh, Principal investigator, Assistance Publique - Hôpitaux de Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04014985
- Sponsor's protocol ID
- 2018-30
- Other IDs
- 2018-A01066-49
- Acronym
- RETT
- Status last verified
- Oct 2026
- First submitted
- 6 Jun 2019
- Last updated
- 28 Oct 2026
- 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 28 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Biological Parameters in 100 Girls With RETT Syndrome
- ClinicalTrials.gov ID
- NCT04014985
- Acronym / sponsor ID
- RETT / 2018-30
- Conditions
- Rett Syndrome
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 78 participants (actual)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- 24 Jun 2019 (actual)
- Primary completion
- 5 Apr 2024 (actual)
- Study completion
- 5 Apr 2024 (actual)
- First posted
- 10 Jul 2019 (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.
It was proposed to the French Association of Rett Syndrome (AFSR) to perform an extensive biological assessment in a series of 100 girls with Rett's syndrome and carriers of a mutation in the MECP2 gene in order to confirm or confirm to reverse the abnormalities identified previously and possibly, to highlight new biomarkers of the pathology. The analysis will focus on classical hematological criteria, iron markers, endocrine assays, lipid quantification and markers of inflammation. At the end of the project, each family will receive the complete biological assessment carried out on their daughter which will represent a direct benefit of the implication in this clinical research project.
Detailed description
The MECP2 (Methyl-CpG binding protein) gene, located on the X X28 chromosome, encodes a heterochromatin nuclear protein. Mecp2 is preferentially found in neurons at a postmitotic stage where it promotes brain development. Its ability to fix methylated DNA and contribute to the formation of a transcriptional repression complex attributes this protein to a crucial role in the control of gene expression. However, until today, its exact role is not known. In humans, mutations in the MECP2 gene are at the origin of neurological diseases, the main one being Rett's syndrome (RTT-MIM # 312750) where a mutation of MECP2 is found in 95% of cases. This dominant pathology linked to the X chromosome has a prevalence of 1/10000 to 1/15000 births and affects mostly girls. The course of the pathology is characterized by a cessation of development between 6 and 18 months after birth. Patients present a set of characteristic signs including regression of acquired abilities, manual stereotyping, loss of language, behavioral disorders and severe intellectual disability. In their attempt to better understand the pathology, many laboratories are currently trying to identify abnormal biological parameters in patients that are easy to identify in a non-invasive or minimally invasive way in order to indirectly evaluate the progression of the pathology and to identify biochemical disorders amenable to direct pharmacological intervention.
In autumn 2015, several factors were identified as deregulated in model mice or RTT patients (Rett syndrome). They could be related to the severity of the disease and indicators of its progression. Among these we can mention:
- major structural damage to red blood cells;
- Inflammation demonstrated and challenged ;
- high oxidative stress markers; lipid deregulation and in particular cholesterol abnormalities;
- a deficiency of the signaling pathway of insulin and IGF-1.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Girls with RETT syndrome | Other | Other: An extensive biological assessment100 girls over 18 years old with RETT syndrome |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- People with Rett syndrome related to MECP2 gene mutation
- Aged under 18 years old.
- Regularly followed as part of their illness by Prof. Bahi-Buisson in Necker or Pr Milh in Marseille.
- Whose state of health justifies a blood test (dosage of one or more anti-epileptics, recommended annual phosphocalcic balance, pre-therapeutic assessment before introduction of a new molecule ...)
- Whose at least one parent (or legal representative) has signed the consent
Key exclusion criteria (2 listed)
- Contraindication to a balance sheet
- Absence of consent of the legal representatives
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 |
|---|---|---|
| An extensive biological assessmentTo study the morphology of red blood cells, the markers of oxidative stress and the signaling pathway of IFGF1. | Other | Girls with RETT syndrome |
Primary outcome
Comparison of red blood cell morphology
Time frame: 1 day
Identification of abnormal red blood cells
Comparison of oxydative stress markers
Time frame: 1 day
Identification of abnormally high cytokine levels
Comparison of cholesterol levels
Time frame: 1 day
Identification of hight cholesterol levels
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2026.
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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.
Mathieu Milh principal investigator
Assistance Publique - Hôpitaux de Marseille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing An extensive biological assessment in people with Rett Syndrome, run by Assistance Publique Hopitaux De Marseille at 1 site 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 6 inclusion and 2 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: finished, as of the sponsor's last update on 28 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Comparison of red blood cell morphology (time frame: 1 day). The study lists 3 primary outcomes in all. 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 28 Oct 2026; AzTrials last refreshed its copy on 31 Oct 2026.