X-linked Moesin Associated Immunodeficiency

NCT06278337 | Recruiting

• 1 other identifier: C19-35
• Study Type: observational
• Target: 16
• Locations: 6 countries
• Sites: 10

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

Conditions

Immune Deficiency; Autoimmune Diseases; Infections; Diagnosis

Outcome Measures

Primary Outcomes (1)

• 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

  through study completion, and average 3 years

Secondary Outcomes (1)

• Secondary objectives1

  through study completion, and average 3 years

Other Outcomes (4)

• secondary objectives 2

  through study completion, and average 3 years

• secondary objective 3

  All the patients are male. As a result of their immune deficiency, patients suffer from recurrent bacterial infections of the respiratory, digestive and urinary tracts, as well as, in some cases, skin manifestations such as eczema, alopecia and molluscum

• secondary objectives 4

  Among patients diagnosed in the first years of life, none showed developmental defects.

Interventions

genetic restrospective study GENETIC

it is not an interventional study but observational

Eligibility Criteria

• Age: 4 Years - 80 Years
• Gender Eligibility Details: The participants are male patients (children or adults) with a mutation in the MOESIN gene (MSN) associated with an immune deficiency, regularly monitored in hospital centers because only male patients are affected by this disease, which is linked to a mutation of a gene on the X chromosome. This will enable us to determine whether symptoms and responses to treatment differ according to mutation. The disease can be diagnosed in the first year of life. Patients are therefore either children or adults.
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• Male patient with a mutation in the MOESIN gene (MSN)
• No objection to the collection of personal health data

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (10)

National Institutes of Health

Bethesda, Maryland, 20892, United States

NOT YET RECRUITING

Perelman School of medecine

Philadelphia, Pennsylvania, 19050, United States

NOT YET RECRUITING

Brown University

Providence, Rhode Island, 02912, United States

NOT YET RECRUITING

Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation

Brisbane, 4001, Australia

NOT YET RECRUITING

Hôpital Universitaire de la Reine Fabiola

Brussels, 1020, Belgium

NOT YET RECRUITING

Hôpital Necker

Paris, PARIS, 75015, France

RECRUITING

CHU Rennes, CNRS UMR 629

Rennes, 35000, France

RECRUITING

CHU St Etienne Hôpital Nord

Saint-Etienne, 42270, France

NOT YET RECRUITING

Tokyo Medical and Dental University (TMDU)

Bunkyō City, 1138510, Japan

NOT YET RECRUITING

Departments of Internal Medicine and Immunology

Rotterdam, Netherlands

NOT YET RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

This is an observational study involving retrospective collection of medical and biological data from X-MAID patients.

MeSH Terms

Conditions

Immunologic Deficiency Syndromes; Autoimmune Diseases; Infections; Disease

Condition Hierarchy (Ancestors)

Immune System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Isabelle ANDRE, doctor

  Institut National de la Santé Et de la Recherche Médicale, France

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Isabelle ANDRE, Doctor

CONTACT

01 42 75 43 37; isabelle.andre@inserm.fr

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 9, 2024
• First Posted: February 26, 2024
• Study Start: August 12, 2021
• Primary Completion (Estimated): August 12, 2026
• Study Completion (Estimated): January 12, 2027
• Last Updated: April 25, 2025

Record last verified: 2025-04

Locations

JP (1); US (3); AU (1); FR (3); BE (1); NL (1)