X-linked Moesin Associated Immunodeficiency

NCT ID: NCT06278337

Last Updated: 2025-04-25

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 16 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-08-12
• Study Completion Date: 2027-01-12

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

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

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: RETROSPECTIVE

Interventions

genetic restrospective study

it is not an interventional study but observational

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

-

• Minimum Eligible Age: 4 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: MALE
• Accepts Healthy Volunteers: No

Sponsors

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

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Isabelle ANDRE, doctor

Role: PRINCIPAL_INVESTIGATOR

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

Locations

National Institutes of Health

Bethesda, Maryland, United States

Site Status: NOT_YET_RECRUITING

Perelman School of medecine

Philadelphia, Pennsylvania, United States

Site Status: NOT_YET_RECRUITING

Brown University

Providence, Rhode Island, United States

Site Status: NOT_YET_RECRUITING

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

Brisbane, , Australia

Site Status: NOT_YET_RECRUITING

Hôpital Universitaire de la Reine Fabiola

Brussels, , Belgium

Site Status: NOT_YET_RECRUITING

Hôpital Necker

Paris, PARIS, France

Site Status: RECRUITING

CHU Rennes, CNRS UMR 629

Rennes, , France

Site Status: RECRUITING

CHU St Etienne Hôpital Nord

Saint-Etienne, , France

Site Status: NOT_YET_RECRUITING

Tokyo Medical and Dental University (TMDU)

Bunkyō City, , Japan

Site Status: NOT_YET_RECRUITING

Departments of Internal Medicine and Immunology

Rotterdam, , Netherlands

Site Status: NOT_YET_RECRUITING

Countries

United States; Australia; Belgium; France; Japan; Netherlands

Central Contacts

Isabelle ANDRE, Doctor

Role: CONTACT

isabelle.andre@inserm.fr

01 42 75 43 37

Facility Contacts

Luigi Notarangelo, Doctor

Role: primary

Jennifer Heimall, Pr

Role: primary

Anthony Hayward

Role: primary

Lyn Griffith, Pr

Role: primary

Catherine Heijmans, Doctor

Role: primary

Benedicte NEVEN

Role: primary

Virginie Gandemer, Doctor

Role: primary

Jean-Louis STEPHAN, Doctor

Role: primary

Kohsuke Imai, Pr

Role: primary

Virgil Dalm

Role: primary

Other Identifiers

C19-35

Identifier Type: -

Identifier Source: org_study_id