Understanding X-linked Moesin Associated Immunodeficiency
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)
Institut National de la Santé Et de la Recherche Médicale, France · NCT06278337
This study looks at how to better treat boys with X-linked Moesin Associated Immunodeficiency by collecting health information to understand their infections and the effects of their genetic mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 16 (estimated) |
| Ages | 4 Years to 80 Years |
| Sex | Male |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France (other gov) |
| Locations | 10 sites (Bethesda, Maryland and 9 other locations) |
| Trial ID | NCT06278337 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on X-linked Moesin Associated Immunodeficiency (XMAID), characterized by recurrent bacterial infections and specific genetic mutations in the moesin gene. The study aims to review the clinical presentation and management of affected male patients, gathering data from various countries to establish treatment guidelines. Participants will be male patients with identified mutations in the MOESIN gene, and the study will involve the collection of personal health data to better understand their conditions and treatment responses.
Who should consider this trial
Good fit: Ideal candidates for this study are male patients with a mutation in the MOESIN gene.
Not a fit: Patients without a mutation in the MOESIN gene or those who do not consent to the collection of personal health data may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with XMAID, potentially reducing the frequency and severity of infections.
How similar studies have performed: While this study builds on previous findings regarding moesin deficiency, it aims to establish a more standardized approach to treatment, indicating a novel aspect in the management of this condition.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Male patient with a mutation in the MOESIN gene (MSN) * No objection to the collection of personal health data Exclusion Criteria: \-
Where this trial is running
Bethesda, Maryland and 9 other locations
- National Institutes of Health — Bethesda, Maryland, United States (NOT_YET_RECRUITING)
- Perelman School of medecine — Philadelphia, Pennsylvania, United States (NOT_YET_RECRUITING)
- Brown University — Providence, Rhode Island, United States (NOT_YET_RECRUITING)
- Genomic Research Centre, School of Biomedical Sciences Institute of Health and Biomedical Innovation — Brisbane, Australia (NOT_YET_RECRUITING)
- Hôpital Universitaire de la Reine Fabiola — Brussels, Belgium (NOT_YET_RECRUITING)
- Hôpital Necker — Paris, PARIS, France (RECRUITING)
- CHU Rennes, CNRS UMR 629 — Rennes, France (RECRUITING)
- CHU St Etienne Hôpital Nord — Saint-Etienne, France (NOT_YET_RECRUITING)
- Tokyo Medical and Dental University (TMDU) — Bunkyō City, Japan (NOT_YET_RECRUITING)
- Departments of Internal Medicine and Immunology — Rotterdam, Netherlands (NOT_YET_RECRUITING)
Study contacts
- Principal investigator: Isabelle ANDRE, doctor — Institut National de la Santé Et de la Recherche Médicale, France
- Study coordinator: Isabelle ANDRE, Doctor
- Email: isabelle.andre@inserm.fr
- Phone: 01 42 75 43 37
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Immune Deficiency, Autoimmune Diseases, Infections, Diagnosis