Clinical trial NCT06464133: Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis
Official title: Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Atopic Dermatitis
Eczema
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
First posted: 2024-06-18
Enrollment: 300
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participants who self-identify as Latino/Latinx or Hispanic ethnicity and who have an established diagnosis of AD based on physician report of at least one-year duration will be considered eligible for this study.

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.

Eligibility criteria: 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:

-

Primary outcomes:
measure: 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.
timeFrame: 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis
Secondary outcomes:
Other outcomes:
measure: To examine the correlation between loss of function (LOF) Filaggrin (FLG) mutations and disease onset and severity among Latinx patients with atopic dermatitis (AD).
timeFrame: 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis
Locations:
city: Philadelphia
country: United States
facility: The University of Pennsylvania
state: Pennsylvania
Study officials:
References: