Immune DeficiencyX-MAIDRegNCT06278337
X-linked Moesin Associated Immunodeficiency
An observational study of Immune Deficiency and Autoimmune Diseases, run by Institut National de la Santé Et de la Recherche Médicale, France at 10 sites in 6 countries.
Trial summary
Moesin deficiency was initially described in 7 male participants aged 4 to 69 years and is characterized by lymphopenia of the 3 lineages and moderate neutropenia. Genetically, 6 out of 7 participants had the same missense mutation in the moesin gene located on the X chromosome. Read more about this study
- Who is it for?
- Ages 4 to 80 years, men only
- Conditions the study is for
- Immune Deficiency, Autoimmune Diseases, Infections
- What is being tested?
- genetic restrospective study
- How many people
- 16 participants
- Where
- 10 sitesin 6 countries
- Study dates
- 12 Aug 2021to 12 Jan 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 4 to 80 years
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Given the small number of participants and the purpose of the study, the group may include deceased patients (at least 1 of the 16 participants). The sample size is 16 patients already identified, and possibly other patients who may be identified once the existence of the the existence of the international registry. Final enrolment will correspond to all X-MAID patients diagnosed worldwide who agree to take part in the study.
Who may be able to join
- Male patient with a mutation in the MOESIN gene (MSN)
- No objection to the collection of personal health data
Who cannot join
- -
Trial locations and contacts
10 sites in 6 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 6 countries
United States3 sites, 3 recruiting
- Not yet recruiting
National Institutes of Health
Bethesda, Maryland, 20892
Luigi Notarangelo, Doctor
- Not yet recruiting
Perelman School of medecine
Philadelphia, Pennsylvania, 19050
Jennifer Heimall, Pr
- Not yet recruiting
Brown University
Providence, Rhode Island, 02912
Anthony Hayward
France3 sites, 3 recruiting
- Recruiting
Hôpital Necker
Paris, PARIS, 75015
Benedicte NEVEN
- Recruiting
CHU Rennes, CNRS UMR 629
Rennes, 35000
Virginie Gandemer, Doctor
- Not yet recruiting
CHU St Etienne Hôpital Nord
Saint-Etienne, 42270
Jean-Louis STEPHAN, Doctor
Australia1 site, 1 recruiting
- Not yet recruiting
Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation
Brisbane, 4001
Lyn Griffith, Pr
Belgium1 site, 1 recruiting
- Not yet recruiting
Hôpital Universitaire de la Reine Fabiola
Brussels, 1020
Catherine Heijmans, Doctor
Japan1 site, 1 recruiting
- Not yet recruiting
Tokyo Medical and Dental University (TMDU)
Bunkyō City, 1138510
Kohsuke Imai, Pr
Netherlands1 site, 1 recruiting
- Not yet recruiting
Departments of Internal Medicine and Immunology
Rotterdam
Virgil Dalm
About this study
Official title: Etude Multicentrique Internationale rétrospective Des Patients Atteints de déficit Immunitaire associé à la moésine lié au Chromosome X (X Maid Pour X-linked Moesin Associated Immunodeficiency)
Moesin deficiency was initially described in 7 male participants aged 4 to 69 years and is characterized by lymphopenia of the 3 lineages and moderate neutropenia. Genetically, 6 out of 7 participants had the same missense mutation in the moesin gene located on the X chromosome. The 7th patient has a mutation leading to the premature introduction of a STOP codon into the protein.Clinically the 7 participants with X-linked moesin-associated immunodeficiency all presented with recurrent bacterial infections of the respiratory, gastrointestinal or urinary tracts, and some had severe varicella.Therapeutically, in the absence of a molecular diagnosis and due to his SCID-like phenotype, one patient was treated with geno-identical hematopoietic stem cell transplantation . The remaining are untreated or treated with immunoglobulin substitution and/or prophylactic antibiotics.
Since this study, the moesin gene has been integrated into DNA chips used for the molecular diagnosis of immune deficiencies in several countries. Physicians in Canada, the United States, Japan, South Africa and Europe have contacted us with a total of 16 known participants to date. Because of their very low severe, uncontrolled CMV infection and the absence of treatment recommendations, two 2 American participants were treated with allogeneic transplantation with severe post-transplant complications (1), and one of the participants died as a result of the transplant. Management of XMAID participants therefore varies widely from country to country, depending on age at diagnosis and clinical picture. It ranges from no treatment treatment (associated with recurrent infections and skin manifestations), IgIv substitution and/or antibiotic prophylaxis antibiotic prophylaxis, with low toxicity and apparent efficacy, and allogeneic transplantation, with all the risks risks involved (graft-related toxicity, graft versus host, disease, rejection, risk of infection). The Investigators therefore feel it is important to review the diagnosis, clinical presentation and management of X-MAID participants. The study the investigator propose will enable to understand the presentation of X-MAID participants, establish guidelines and provide the best treatment for each patient according to his or her clinical picture
Read the detailed description
Since this study, the moesin gene has been integrated into DNA chips used for the molecular diagnosis of immune deficiencies in several countries. Physicians in Canada, the United States, Japan, South Africa and Europe have contacted us with a total of 16 known participants to date. Because of their very low severe, uncontrolled CMV infection and the absence of treatment recommendations, two 2 American participants were treated with allogeneic transplantation with severe post-transplant complications (1), and one of the participants died as a result of the transplant. Management of XMAID participants therefore varies widely from country to country, depending on age at diagnosis and clinical picture. It ranges from no treatment treatment (associated with recurrent infections and skin manifestations), IgIv substitution and/or antibiotic prophylaxis antibiotic prophylaxis, with low toxicity and apparent efficacy, and allogeneic transplantation, with all the risks risks involved (graft-related toxicity, graft versus host, disease, rejection, risk of infection). The investigators therefore feel it is important to review the diagnosis, clinical presentation and management of X-MAID participants. The study the investigators propose will enable to understand the presentation of X-MAID participants, establish guidelines and provide the best treatment for each participant according to his or her clinical picture
- Conditions
- Immune Deficiency, Autoimmune Diseases, Infections, Diagnosis
- Being tested
- genetic restrospective study
- Medical subject headings
- Immunologic Deficiency Syndromes, Autoimmune Diseases, Infections, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic restrospective studyGenetic
it is not an interventional study but observational
What is being measured
The primary outcome is the main question the study is designed to answer.
The main objective
The main objective is to study the clinical results of the different therapeutic options applied to X-MAID patients, and to investigate whether there is a correlation between treatment responses and mutation position
Measured: through study completion, and average 3 years
Secondary outcomes (1)
Secondary objectives1
Circumstances of genetic diagnosis: at what age are these patients diagnosed, and by what means? (role of prenatal screening).
Measured: through study completion, and average 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2024
- Study start12 Aug 2021
- Primary completion12 Aug 2026 (estimated)
- Study completion12 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Immune DeficiencyStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Observational
- Observational model
- Other
- Time perspective
- Retrospective
- Enrolment
- 16 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Isabelle ANDRE, doctor, Principal investigator, Institut National de la Santé Et de la Recherche Médicale, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06278337
- Sponsor's protocol ID
- C19-35
- Acronym
- X-MAIDReg
- Status last verified
- Apr 2025
- First submitted
- 9 Jan 2024
- Last updated
- 25 Apr 2025
- 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 25 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Etude Multicentrique Internationale rétrospective Des Patients Atteints de déficit Immunitaire associé à la moésine lié au Chromosome X (X Maid Pour X-linked Moesin Associated Immunodeficiency)
- ClinicalTrials.gov ID
- NCT06278337
- Acronym / sponsor ID
- X-MAIDReg / C19-35
- Conditions
- Immune Deficiency, Autoimmune Diseases, Infections, Diagnosis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 16 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 12 Aug 2021 (actual)
- Primary completion
- 12 Aug 2026 (estimated)
- Study completion
- 12 Jan 2027 (estimated)
- First posted
- 26 Feb 2024 (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.
Moesin deficiency was initially described in 7 male participants aged 4 to 69 years and is characterized by lymphopenia of the 3 lineages and moderate neutropenia. Genetically, 6 out of 7 participants had the same missense mutation in the moesin gene located on the X chromosome. The 7th patient has a mutation leading to the premature introduction of a STOP codon into the protein.Clinically the 7 participants with X-linked moesin-associated immunodeficiency all presented with recurrent bacterial infections of the respiratory, gastrointestinal or urinary tracts, and some had severe varicella.Therapeutically, in the absence of a molecular diagnosis and due to his SCID-like phenotype, one patient was treated with geno-identical hematopoietic stem cell transplantation . The remaining are untreated or treated with immunoglobulin substitution and/or prophylactic antibiotics.
Since this study, the moesin gene has been integrated into DNA chips used for the molecular diagnosis of immune deficiencies in several countries. Physicians in Canada, the United States, Japan, South Africa and Europe have contacted us with a total of 16 known participants to date. Because of their very low severe, uncontrolled CMV infection and the absence of treatment recommendations, two 2 American participants were treated with allogeneic transplantation with severe post-transplant complications (1), and one of the participants died as a result of the transplant. Management of XMAID participants therefore varies widely from country to country, depending on age at diagnosis and clinical picture. It ranges from no treatment treatment (associated with recurrent infections and skin manifestations), IgIv substitution and/or antibiotic prophylaxis antibiotic prophylaxis, with low toxicity and apparent efficacy, and allogeneic transplantation, with all the risks risks involved (graft-related toxicity, graft versus host, disease, rejection, risk of infection). The Investigators therefore feel it is important to review the diagnosis, clinical presentation and management of X-MAID participants. The study the investigator propose will enable to understand the presentation of X-MAID participants, establish guidelines and provide the best treatment for each patient according to his or her clinical picture
Detailed description
Since this study, the moesin gene has been integrated into DNA chips used for the molecular diagnosis of immune deficiencies in several countries. Physicians in Canada, the United States, Japan, South Africa and Europe have contacted us with a total of 16 known participants to date. Because of their very low severe, uncontrolled CMV infection and the absence of treatment recommendations, two 2 American participants were treated with allogeneic transplantation with severe post-transplant complications (1), and one of the participants died as a result of the transplant. Management of XMAID participants therefore varies widely from country to country, depending on age at diagnosis and clinical picture. It ranges from no treatment treatment (associated with recurrent infections and skin manifestations), IgIv substitution and/or antibiotic prophylaxis antibiotic prophylaxis, with low toxicity and apparent efficacy, and allogeneic transplantation, with all the risks risks involved (graft-related toxicity, graft versus host, disease, rejection, risk of infection). The investigators therefore feel it is important to review the diagnosis, clinical presentation and management of X-MAID participants. The study the investigators propose will enable to understand the presentation of X-MAID participants, establish guidelines and provide the best treatment for each participant according to his or her clinical picture
Study design
- Observational model
- Other
- Time perspective
- Retrospective
Who may qualify
- Ages
- 4 to 80 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Given the small number of participants and the purpose of the study, the group may include deceased patients (at least 1 of the 16 participants). The sample size is 16 patients already identified, and possibly other patients who may be identified once the existence of the the existence of the international registry. Final enrolment will correspond to all X-MAID patients diagnosed worldwide who agree to take part in the study.
Key inclusion criteria (2 listed)
- Male patient with a mutation in the MOESIN gene (MSN)
- No objection to the collection of personal health data
Key exclusion criteria (1 listed)
- -
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 |
|---|---|---|
| genetic restrospective studyit is not an interventional study but observational | Genetic | – |
Primary outcome
The main objective
Time frame: through study completion, and average 3 years
The main objective is to study the clinical results of the different therapeutic options applied to X-MAID patients, and to investigate whether there is a correlation between treatment responses and mutation position
1 secondary outcome
Secondary objectives1
Time frame: through study completion, and average 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Apr 2025.
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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.
Isabelle ANDRE, doctor principal investigator
Institut National de la Santé Et de la Recherche Médicale, France
10 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Immune Deficiency and Autoimmune Diseases, run by Institut National de la Santé Et de la Recherche Médicale, France at 10 sites in 6 countries.
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 2 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 25 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, France, Australia, Belgium, Japan and 1 more country. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Isabelle ANDRE, Doctor (01 42 75 43 37, isabelle.andre@inserm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The main objective (time frame: through study completion, and average 3 years). 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 25 Apr 2025.