Profiles Analysis of Genome Wide Association Study (GWAS) in Acne Vulgaris in Indonesia.

Profiles Analysis of Genome Wide Association Study (GWAS) in Acne Vulgaris in Indonesia

This study is a series of descriptive-analytic studies on genomic variants in the facial skin of patients with AV at the Dermatology and Venereology Polyclinic by determining the genetic profile by GWAS examination in AVB and analysing the genetic profile in AVB against differences in geographical location. The research design used was a cross-sectional design.

Study Overview

• Status: Recruiting
• Conditions: Acne Vulgaris
• Intervention / Treatment: Genetic: GWAS

Detailed Description

Research subjects were obtained from the affordable population who met the research criteria and expressed their willingness to participate in the study.

Subject selection was carried out by purposive sampling method that met the inclusion criteria. The study will be conducted in one visit where the patient and his/her parents come to be given an explanation about the study with a request for informed consent, screening for inclusion and exclusion criteria, anamnesis of facial complaints, taking data on demographics, patient's medical history, patient's medical history, physical examination, taking clinical photos in 5 positions and ending with taking blood samples of the patient and blood samples from both parents of the patient as much as 10 mL.

The study will be conducted in three places, namely in Jakarta, Padang, and Manado. In sampling in Padang and Manado, to prevent damage to the samples that have been taken, the samples will be stored at a temperature of -20C, then when brought to Jakarta will use a cooler box along with an ice pack at a temperature of 2-3C, before being processed in the Bioinformatics Core Facilities IMERI laboratory, Jakarta. When the samples are collected in Jakarta, the blood samples will be immediately stored in the laboratory at -20C.

• Study Type: Interventional
• Enrollment (Estimated): 24
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Irma Bernadette, Professor; Phone Number: +62818130761; Email: Irma_bernadette@yahoo.com

Study Locations

• Indonesia
  • Jakarta
    • Jakarta Pusat, Jakarta, Indonesia, 10430
      • Recruiting
      • Universitas Indonesia

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

• Males or females with AVB aged 17-21 years
• Both parents of complete subjects with or without a history of acne vulgaris aged up to 60 years
• Patients and parents are willing to participate in the study and sign informed consent.

Exclusion Criteria:

• Patients who have other inflammatory or infectious diseases especially on the face
• Have genetic diseases or disorders
• Diagnosed with primary or secondary immunodeficiency diseases
• Using oral or systemic antibiotic, anti-inflammatory, retinoid or hormone therapy in the past month.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Lifestyle counseling	Genetic: GWAS; In GWAS studies, data are collected to determine common variants in a number of individuals, either with or without a common trait (for example,. disease) across the genome, using genome wide SNP arrays.
Experimental: clinical examination	Genetic: GWAS; In GWAS studies, data are collected to determine common variants in a number of individuals, either with or without a common trait (for example,. disease) across the genome, using genome wide SNP arrays.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Severity of acne vulgaris	Physical examination: identify the number of blackheads, papules, pustules and cysts. Degree of severity:(1)Mild =Comedo<20, or inflammatory lesion<15, or total lesion<30(2)Moderate = Comedo 20-100, or inflammatory lesion15-50, or total lesion 30-125(3)Severe =cyst>5, or Comedo>100, or inflammatory lesion>50, or total lesion>125.	1 year
Population structure	Gene testing of blood sample Genetic Inflation Factor (GIF) >1.1 or <1.1 Principal Component Analysis (PCA)	3 months
Genomic Profile	Blood sample examination, processed using GWAS Mutations (SNPs)(1)Present(2)Absent	3 months
Linkage disequilibirium (LD)	Gene testing of blood samples Coefficient 0-1	3 months
Haplotype	Gene testing of blood samples Jumlah gen; Satu gen; Multipel gen	3 months
SNP Enrichment	Gene testing of blood samples Mutation position	3 months
Association analysis and Association analysis of imputation results	Gene testing of blood samples PCA value	3 months

Collaborators and Investigators

• Sponsor: Dr.dr.Irma Bernadette, SpKK (K)
• Collaborators: Indonesian Medical Education and Research Institute

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2023
• Primary Completion (Actual): November 30, 2023
• Study Completion (Estimated): August 17, 2024

Study Registration Dates

• First Submitted: June 2, 2024
• First Submitted That Met QC Criteria: July 9, 2024
• First Posted (Actual): July 15, 2024

Study Record Updates

• Last Update Posted (Actual): July 15, 2024
• Last Update Submitted That Met QC Criteria: July 9, 2024
• Last Verified: July 1, 2024

More Information

Terms related to this study

• Keywords: Genetic; Acne; Genotype; Single Nucleotide Polymorphism (SNP); Acne Vulgaris (AV); Genome Wide Association Study (GWAS); Deoxyribonucleic Acid (DNA)
• Additional Relevant MeSH Terms: Skin Diseases; Acneiform Eruptions; Sebaceous Gland Diseases; Acne Vulgaris
• Other Study ID Numbers: Univ_Indo

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: The results of this study are expected to be the initial stage for further research on genetic profiles in AVB, Benefits for the Field of Community Service-Improve clinician knowledge about genetic profiles in AVB-The results of this study are expected to be used as a reference in acne vulgaris management services so that they can produce more measurable and effective therapy. and provide a positive impact for RSCM to improve optimal service to Dermatology and Venereology patients.
• IPD Sharing Time Frame: 1 year
• IPD Sharing Access Criteria: data collection
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; SAP; ICF; CSR

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No