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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
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)
Secondary ID [1] 0 0
C19-35
Universal Trial Number (UTN)
Trial acronym
X-MAIDReg
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Immune Deficiency 0 0
Autoimmune Diseases 0 0
Infections 0 0
Diagnosis 0 0
Condition category
Condition code
Inflammatory and Immune System 0 0 0 0
Autoimmune diseases

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Other interventions - genetic restrospective study

Other interventions: genetic restrospective study
it is not an interventional study but observational
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
The main objective
Timepoint [1] 0 0
through study completion, and average 3 years
Secondary outcome [1] 0 0
Secondary objectives1
Timepoint [1] 0 0
through study completion, and average 3 years

Eligibility
Key inclusion criteria
- Male patient with a mutation in the MOESIN gene (MSN)

- No objection to the collection of personal health data
Minimum age
4 Years
Maximum age
80 Years
Sex
Males
Can healthy volunteers participate?
No
Key exclusion criteria
-

Study design
Purpose
Duration
Selection
Timing
Retrospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
12/08/2021
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
12/01/2027
Actual
Sample size
Target
16
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation - Brisbane
Recruitment postcode(s) [1] 0 0
4001 - Brisbane
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Maryland
Country [2] 0 0
United States of America
State/province [2] 0 0
Pennsylvania
Country [3] 0 0
United States of America
State/province [3] 0 0
Rhode Island
Country [4] 0 0
Belgium
State/province [4] 0 0
Bruxelles
Country [5] 0 0
France
State/province [5] 0 0
Paris
Country [6] 0 0
France
State/province [6] 0 0
Rennes
Country [7] 0 0
France
State/province [7] 0 0
Saint-Étienne
Country [8] 0 0
Japan
State/province [8] 0 0
Bunkyo-Ku
Country [9] 0 0
Netherlands
State/province [9] 0 0
Rotterdam

Funding & Sponsors
Primary sponsor type
Other
Name
Institut National de la Santé Et de la Recherche Médicale, France
Address
Country

Ethics approval
Ethics application status

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
Trial website
https://clinicaltrials.gov/ct2/show/NCT06278337
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Isabelle ANDRE, doctor
Address 0 0
Institut National de la Santé Et de la Recherche Médicale, France
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Isabelle ANDRE, Doctor
Address 0 0
Country 0 0
Phone 0 0
01 42 75 43 37
Fax 0 0
Email 0 0
isabelle.andre@inserm.fr
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT06278337