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X-linked Moesin Associated Immunodeficiency
NCT06278337 · View on ClinicalTrials.gov ↗
Study 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 impor
Conditions Studied
Interventions
- GENETIC genetic restrospective study
Study Locations (10)
Other
- Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation — Brisbane
- Hôpital Universitaire de la Reine Fabiola — Brussels
- CHU Rennes, CNRS UMR 629 — Rennes
- CHU St Etienne Hôpital Nord — Saint-Etienne
- Tokyo Medical and Dental University (TMDU) — Bunkyō City
- Departments of Internal Medicine and Immunology — Rotterdam
Maryland
- National Institutes of Health — Bethesda
Pennsylvania
- Perelman School of medecine — Philadelphia
Rhode Island
- Brown University — Providence
PARIS
- Hôpital Necker — Paris
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 16 participants |
| Start Date | 2021-08-12 |
| Est. Completion | 2027-01-12 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT06278337
The ClinicalTrials.gov registry entry for NCT06278337 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 16 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Institut National de la Santé Et de la Recherche Médicale, France, which has 1 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 4 conditions, with Infections appearing as the primary indexed condition, and to 1 intervention — of which genetic restrospective study is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT06278337 reports 10 study locations spanning 5 distinct geographic areas — top geographies include Other, Maryland, Pennsylvania. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT06278337 about?
NCT06278337 is a clinical study titled "X-linked Moesin Associated Immunodeficiency". 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 ...
What is the current status of trial NCT06278337?
This trial is currently recruiting. The enrollment target is 16 participants. The study started on 2021-08-12. Estimated completion is 2027-01-12.
What conditions does trial NCT06278337 study?
This clinical trial studies the following conditions: Infections, Autoimmune Diseases, Diagnosis, Immune Deficiency. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT06278337?
The interventions under investigation include: genetic restrospective study (GENETIC). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT06278337?
This trial is sponsored by Institut National de la Santé Et de la Recherche Médicale, France, which has 1 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT06278337 being conducted?
This trial has 10 study locations across Maryland, Pennsylvania, Rhode Island, PARIS. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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