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Enrolling by Invitation

NCT Number: NCT06464133

Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis

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.

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Key information

Conditions

Atopic Dermatitis Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dermatitis Dermatitis, Atopic Eczema Genetic Diseases, Inborn Hypersensitivity Hypersensitivity, Immediate Immune System Diseases Skin Diseases Skin Diseases, Eczematous Skin Diseases, Genetic Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

The University of Pennsylvania

Philadelphia, Pennsylvania, 19140, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

-

Treatment and study plan

Primary outcomes

  1. 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.

    Time frame: 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis

Other outcomes

  1. To examine the correlation between loss of function (LOF) Filaggrin (FLG) mutations and disease onset and severity among Latinx patients with atopic dermatitis (AD).

    Time frame: 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis

Sponsors and collaborators

Lead sponsor

University of Pennsylvania

Other

Registry information

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Jun 18, 2024
Registry last updated
Apr 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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