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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/ct2/show/NCT06278337
Registration number
NCT06278337
Ethics application status
Date submitted
9/01/2024
Date registered
26/02/2024
Date last updated
26/02/2024
Titles & IDs
Public title
X-linked Moesin Associated Immunodeficiency
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Scientific 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)
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Secondary ID [1]
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C19-35
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Universal Trial Number (UTN)
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Trial acronym
X-MAIDReg
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Immune Deficiency
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Autoimmune Diseases
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Infections
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Diagnosis
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Condition category
Condition code
Inflammatory and Immune System
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Autoimmune diseases
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Other interventions - genetic restrospective study
Other interventions: genetic restrospective study
it is not an interventional study but observational
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Intervention code [1]
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Other interventions
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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The main objective
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Assessment method [1]
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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
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Timepoint [1]
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through study completion, and average 3 years
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Secondary outcome [1]
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Secondary objectives1
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Assessment method [1]
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Circumstances of genetic diagnosis: at what age are these patients diagnosed, and by what means? (role of prenatal screening).
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Timepoint [1]
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through study completion, and average 3 years
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Eligibility
Key inclusion criteria
- Male patient with a mutation in the MOESIN gene (MSN)
- No objection to the collection of personal health data
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Minimum age
4
Years
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Maximum age
80
Years
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Sex
Males
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Can healthy volunteers participate?
No
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Key exclusion criteria
-
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Study design
Purpose
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Duration
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Selection
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Timing
Retrospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
12/08/2021
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
12/01/2027
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Actual
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Sample size
Target
16
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
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Recruitment hospital [1]
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Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation - Brisbane
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Recruitment postcode(s) [1]
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4001 - Brisbane
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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Maryland
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Country [2]
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United States of America
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State/province [2]
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Pennsylvania
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Country [3]
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United States of America
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State/province [3]
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Rhode Island
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Country [4]
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Belgium
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State/province [4]
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Bruxelles
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Country [5]
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France
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State/province [5]
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Paris
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Country [6]
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France
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State/province [6]
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Rennes
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Country [7]
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France
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State/province [7]
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Saint-Étienne
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Country [8]
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Japan
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State/province [8]
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Bunkyo-Ku
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Country [9]
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Netherlands
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State/province [9]
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Rotterdam
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Funding & Sponsors
Primary sponsor type
Other
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Name
Institut National de la Santé Et de la Recherche Médicale, France
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Address
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Country
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Ethics approval
Ethics application status
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Summary
Brief 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. 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
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Trial website
https://clinicaltrials.gov/ct2/show/NCT06278337
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Isabelle ANDRE, doctor
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Address
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Institut National de la Santé Et de la Recherche Médicale, France
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Isabelle ANDRE, Doctor
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Address
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Country
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Phone
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01 42 75 43 37
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Summary Results
For IPD and results data, please see
https://clinicaltrials.gov/ct2/show/NCT06278337
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