Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis

Status

Enrolling by invitation

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06464133

Enrollment

300

Registered

2024-06-18

Start date

2025-01-23

Completion date

2027-12-31

Last updated

2026-04-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Atopic Dermatitis, Eczema

Brief summary

The study, Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis, will examine the association between pathogenic FLG LOF variants and AD in a new population of Latinx patients for which clinical and disease characteristics will be well-described.

Detailed description

Filaggrin deficiency is considered a major target for therapy in Atopic Dermatitis (AD).43 The current status quo with regards to FLG LOF mutations as the strongest known genetic risk factor in AD stems from incomplete data as the majority of studies that have previously examined this association have been carried out in only a limited group of populations (i.e., European ancestry).30 Such partial data impedes our full understanding of genetic risk in AD and consequently has implications for disease prognosis and management. The proposed research represents an attempt to examine long-held paradigms in AD as they relate to genetic risk factors and disease. The development of an independent cohort of Latinx subjects with physician-confirmed diagnosis of AD that is also well phenotyped and grouped by ancestry, while also capturing measures of disease severity, will provide the opportunity to examine a population that has been largely absent from prior studies and further advance our understanding of the pathogenomic role FLG LOF variants in AD.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Established diagnosis of AD based on physician report of at least one-year duration * Self-identification as Latino/Latinx or Hispanic

Exclusion criteria

Design outcomes

Primary

Measure	Time frame
To identify and describe Filaggrin (FLG) loss of function (LOF) variants in the GAD-L cohort using a high-throughput PCR approach that incorporates Fluidigm microfluidics technology and next-generation sequencing (NGS) to sequence the entire FLG gene.	2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis

Countries

United States

Outcome results