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)

Status: Recruiting
Location: See all (10) locations...
Intervention Type: Genetic
Study Type: Observational
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

Eligibility
Participation Requirements
Sex: Male
Minimum Age: 4
Maximum Age: 80
Healthy Volunteers: f
View:

• Male patient with a mutation in the MOESIN gene (MSN)

• No objection to the collection of personal health data

Locations
United States
Maryland
National Institutes of Health
NOT_YET_RECRUITING
Bethesda
Pennsylvania
Perelman School of medecine
NOT_YET_RECRUITING
Philadelphia
Rhode Island
Brown University
NOT_YET_RECRUITING
Providence
Other Locations
Australia
Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation
NOT_YET_RECRUITING
Brisbane
Belgium
Hôpital Universitaire de la Reine Fabiola
NOT_YET_RECRUITING
Brussels
France
Hôpital Necker
RECRUITING
Paris
CHU Rennes, CNRS UMR 629
RECRUITING
Rennes
CHU St Etienne Hôpital Nord
NOT_YET_RECRUITING
Saint-etienne
Japan
Tokyo Medical and Dental University (TMDU)
NOT_YET_RECRUITING
Bunkyō City
Netherlands
Departments of Internal Medicine and Immunology
NOT_YET_RECRUITING
Rotterdam
Contact Information
Primary
Isabelle ANDRE, Doctor
isabelle.andre@inserm.fr
01 42 75 43 37
Time Frame
Start Date: 2021-08-12
Estimated Completion Date: 2027-01-12
Participants
Target number of participants: 16
Sponsors
Leads: Institut National de la Santé Et de la Recherche Médicale, France

This content was sourced from clinicaltrials.gov