Atopic DermatitisNCT06464133
Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis
An observational study of Atopic Dermatitis and Eczema, run by University of Pennsylvania at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Atopic Dermatitis, Eczema
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Jan 2025to 31 Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- Established diagnosis of AD based on physician report of at least one-year duration
- Self-identification as Latino/Latinx or Hispanic
Who cannot join
- -
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
The University of Pennsylvania
Philadelphia, Pennsylvania, 19140
About this study
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.
Read the 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.
- Conditions
- Atopic Dermatitis, Eczema
- Medical subject headings
- Dermatitis, Atopic, Eczema
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jun 2024
- Study start23 Jan 2025
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Atopic DermatitisStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06464133
- Sponsor's protocol ID
- 853590
- Status last verified
- Apr 2026
- First submitted
- 10 May 2024
- Last updated
- 24 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of Filaggrin Gene Mutations Among Latinx Patients With Atopic Dermatitis
- ClinicalTrials.gov ID
- NCT06464133
- Acronym / sponsor ID
- 853590
- Conditions
- Atopic Dermatitis, Eczema
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Study start
- 23 Jan 2025 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 18 Jun 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (2 listed)
- Established diagnosis of AD based on physician report of at least one-year duration
- Self-identification as Latino/Latinx or Hispanic
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Atopic Dermatitis and Eczema, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 24 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome 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. (time frame: 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Apr 2026.