X-linked Moesin Associated Immunodeficiency

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
Institut National de la Santé Et de la Recherche Médicale, France
Study ID
NCT06278337
Status
Recruiting
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Conditions

  • Autoimmune Diseases
  • Diagnosis
  • Immune Deficiency
  • Infections

Eligibility Criteria

Sex
MALE
Age
4 Years - 80 Years
Healthy Volunteers
Not accepted

Interventions

  • genetic restrospective study — GENETIC
    it is not an interventional study but observational

Study Details

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

Key Dates

Start date
Aug 12, 2021
Status verified
Apr 2025
Primary completion
Aug 12, 2026
Completion
Jan 12, 2027

Study Design

Enrollment
16 participants (estimated)

Primary Outcome Measure

The main objective [ Time Frame: through study completion, and average 3 years ]

Central Contacts

Locations (3)

FacilityCityStateZIPSite coordinators
National Institutes of HealthBethesdaMaryland20892
Luigi Notarangelo, Doctor
Perelman School of medecinePhiladelphiaPennsylvania19050
Jennifer Heimall, Pr
Brown UniversityProvidenceRhode Island02912
Anthony Hayward

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National Institutes of Health· Bethesda, MDPerelman School of medecine· Philadelphia, PABrown University· Providence, RI

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