ANZCTR - Registration

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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06278337

Registration number

NCT06278337

Ethics application status

Date submitted

9/01/2024

Date registered

26/02/2024

Date last updated

26/02/2024

Titles & IDs

Public title

X-linked Moesin Associated Immunodeficiency

Scientific title

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)

Secondary ID [1]

C19-35

Universal Trial Number (UTN)

Trial acronym

X-MAIDReg

Linked study record

Health condition

Health condition(s) or problem(s) studied:

Immune Deficiency

Autoimmune Diseases

Infections

Diagnosis

Condition category

Condition code

Inflammatory and Immune System

Autoimmune diseases

Intervention/exposure

Study type

Observational

Patient registry

Target follow-up duration

Target follow-up type

Description of intervention(s) / exposure

Treatment: Other - genetic restrospective study

Treatment: Other: genetic restrospective study
it is not an interventional study but observational

Intervention code [1]

Treatment: Other

Comparator / control treatment

Control group

Outcomes

Primary outcome [1]

The main objective

Timepoint [1]

through study completion, and average 3 years

Secondary outcome [1]

Secondary objectives1

Timepoint [1]

through study completion, and average 3 years

Eligibility

Key inclusion criteria

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

Minimum age

4 Years

Maximum age

80 Years

Sex

Males

Can healthy volunteers participate?

Key exclusion criteria

Study design

Purpose

Duration

Selection

Timing

Retrospective

Statistical methods / analysis

Recruitment

Recruitment status

Recruiting

Data analysis

Reason for early stopping/withdrawal

Other reasons

Date of first participant enrolment

Anticipated

Actual

12/08/2021

Date of last participant enrolment

Anticipated

Actual

Date of last data collection

Anticipated

12/01/2027

Actual

Sample size

Target

Accrual to date

Final

Recruitment in Australia

Recruitment state(s)

Recruitment hospital [1]

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

Recruitment postcode(s) [1]

4001 - Brisbane

Recruitment outside Australia

Country [1]

United States of America

State/province [1]

Maryland

Country [2]

United States of America

State/province [2]

Pennsylvania

Country [3]

United States of America

State/province [3]

Rhode Island

Country [4]

Belgium

State/province [4]

Bruxelles

Country [5]

France

State/province [5]

Paris

Country [6]

France

State/province [6]

Rennes

Country [7]

France

State/province [7]

Saint-Étienne

Country [8]

Japan

State/province [8]

Bunkyo-Ku

Country [9]

Netherlands

State/province [9]

Rotterdam

Funding & Sponsors

Primary sponsor type

Government body

Name

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

Address

Country

Ethics approval

Ethics application status

Summary

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

Trial website

https://clinicaltrials.gov/study/NCT06278337

Trial related presentations / publications

Public notes

Contacts

Principal investigator

Name

Isabelle ANDRE, doctor

Address

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

Country

Phone

Fax

Contact person for public queries

Name

Isabelle ANDRE, Doctor

Address

Country

Phone

01 42 75 43 37

Fax

isabelle.andre@inserm.fr

Contact person for scientific queries

No information has been provided regarding IPD availability

What supporting documents are/will be available?

No Supporting Document Provided

Results publications and other study-related documents

No documents have been uploaded by study researchers.

Results not provided in https://clinicaltrials.gov/study/NCT06278337

Trial Review

Registering a new trial?

For full trial details, please see the original record at https://clinicaltrials.gov/study/NCT06278337