Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment (SA)

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2013 by Duke University
Sponsor:
Information provided by (Responsible Party):
Duke University
ClinicalTrials.gov Identifier:
NCT01727440
First received: October 24, 2012
Last updated: June 12, 2013
Last verified: June 2013
  Purpose

The goal of this study is to enroll 250 participants that have joined the MURDOCK Study Horizon 1.5 (Duke IRB Pro00011196) with a current or prior diagnosis of severe acne AND current or prior treatment with oral isotretinoin. All 250 participants will answer a 5-page questionnaire designed to collect information on the diagnosis of severe acne and response to oral isotretinoin treatment. The aim is to identify genetic predictors of severe acne vulgaris and the outcome of oral isotretinoin treatment.


Condition
Acne Vulgaris
Isotretinoin

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment

Resource links provided by NLM:


Further study details as provided by Duke University:

Primary Outcome Measures:
  • Therapeutic response to isotretinoin [ Time Frame: 10 months ] [ Designated as safety issue: No ]
    All 250 patients with severe acne will be genotyped using the Illumina 610 BeadChip. Whole-exome sequencing will be performed on 100 extremely severe acne vulgaris patients, selected based on severity and response to oral isotretinoin treatment. A case-control GWAS analysis will be performed (250 recruited patients vs. 1000 normal controls of convenience available in other studies at CHGV). Additionally, an association analyses will be conducted using complete exome sequencing data for the most severe cases, compared with controls of convenience (as an extreme trait in the population, there is a reasonable expectation of discovery of any important variants, rare or common). This analysis would also include targeted analysis on available drug response data (efficacy and adverse response).


Secondary Outcome Measures:
  • Adverse reaccion to isotretinoin [ Time Frame: 10 months ] [ Designated as safety issue: No ]
    All 250 patients with severe acne will be genotyped using the Illumina 610 BeadChip. Whole-exome sequencing will be performed on 100 extremely severe acne vulgaris patients, selected based on severity and response to oral isotretinoin treatment. A case-control GWAS analysis will be performed (250 recruited patients vs. 1000 normal controls of convenience available in other studies at CHGV). Additionally, an association analyses will be conducted using complete exome sequencing data for the most severe cases, compared with controls of convenience (as an extreme trait in the population, there is a reasonable expectation of discovery of any important variants, rare or common). This analysis would also include targeted analysis on available drug response data (efficacy and adverse response).


Biospecimen Retention:   Samples With DNA

Whole blood collected in three 2-mL EDTA tubes


Estimated Enrollment: 250
Study Start Date: September 2011
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Detailed Description:

Acne vulgaris is an under-studied common genetic disease with tremendous economic consequences. Acne vulgaris is one of the most common skin conditions treated by doctors. It affects 40-50 million people in the USA, with prevalence as high as 85% (recent study from Iran was 93%) in teenagers; 18% of woman have late onset (>25yr) acne vulgaris. Severe acne has a life-long psychosocial impact due to the significant scarring. Severe acne can also be associated with severe systemic inflammatory disease with fever, sterile osteomyelitis, inflammatory arthritis and other signs of systemic inflammatory responses. Some of these syndromes in Mendelian form (e.g. PAPA syndrome) have known genetic defects. Finally, while the data are inconclusive, there have been many suggestions that diet can exacerbate acne in some patients. The standard of care treatment for severe acne is systemic retinoid therapy, which, is usually, but not always effective. Unfortunately, systemic retinoid treatment is associated with significant toxicity, including common cutaneous adverse effects (dry lips, eyes, skin fragility), less common laboratory abnormalities such as elevated blood lipids, liver function abnormalities, and severe predictable teratogenicity. In addition, systemic therapy with retinoids has been associated with systemic diseases such as clinical depression, suicide, and inflammatory bowel disease, however the mechanisms and significance of these associations has not been determined. Given the frequency and severity of severe acne, the predictable severe toxicity of systemic retinoid therapy, and the already demonstrated genetic associations found in Mendelian forms of severe acne, it seems likely that significant genetic risk factors may be identified in patients with severe acne which would promote new and safer therapy, including dietary adjustment.

  Eligibility

Ages Eligible for Study:   12 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Participants must enroll or have enrolled in the MURDOCK Study Community Registry and Biorepository prior to joining this Severe Acne Study. At the MURDOCK Study visit, or after the participant has enrolled in the MURDOCK Study, they will be asked (either in person or via phone) if they would be willing to join the Severe Acne Study.

Participants between ages 12 and 18 may also join the MURDOCK Study if they meet the eligibility criteria for this Severe Acne Study (a pediatric consent form will be used).

Criteria

Inclusion Criteria:

  • Diagnosed with severe acne while age > 12 and < 18, and
  • Completed at least one course of oral isotretinoin treatment; OR started treatment but discontinued prior to completion due to adverse side effects (with the exception of dry skin - see "exclusion criteria"); OR are currently undergoing and plan to complete treatment

Exclusion Criteria:

  • Patients who are not willing to participate in this study
  • Patients who experienced inflammatory bowel disease (IBD) prior to oral isotretinoin treatment
  • Patients who did not complete the oral isotretinoin treatment because of pregnancy, dry skin, or reasons other than adverse side effects listed above
  • Patients who are not willing to or cannot provide a blood sample for Murdock Study
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01727440

Contacts
Contact: Enya Rentas-Sherman 704-250-5873 enya.rentas-sherman@duke.edu

Locations
United States, North Carolina
Dermatology Group of the Carolinas Recruiting
Concord, North Carolina, United States, 28025
Contact: Enya Rentas-Sherman    704-250-5873    enya.rentas-sherman@duke.edu   
Contact: Leah Bouk    919-451-5051    leah.bouk@duke.edu   
Carolinas Medical Center Northeast Medical Arts Building Recruiting
Concord, North Carolina, United States, 28025
Contact: Enya Rentas-Sherman    919-942-8704    enya.rentas-sherman@duke.edu   
Ada Jenkins Center Recruiting
Davidson, North Carolina, United States, 28036
Contact: Enya Rentas-Sherman    919-943-8704    enya.rentas-sherman@duke.edu   
Harrisburg Sleep Center Recruiting
Harrisburg, North Carolina, United States, 28075
Contact: Enya Rentas-Sherman    919-943-8704    enya.rentas-sherman@duke.edu   
Lake Norman Community Health Clinic Recruiting
Huntersville, North Carolina, United States, 28078
Contact: Enya Rentas-Sherman, CCRC    919-943-8704    enya.rentas-sherman@dm.duke.edu   
Kannapolis Internal Medicine Recruiting
Kannapolis, North Carolina, United States, 28081
Contact: Enya Rentas-Sherman    919-943-8704    enya.rentas-sherman@duke.edu   
Sponsors and Collaborators
Duke University
Investigators
Principal Investigator: Thomas Urban, PhD Duke Medicine Site Based Research Group
  More Information

Additional Information:
No publications provided

Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT01727440     History of Changes
Other Study ID Numbers: Pro00030862
Study First Received: October 24, 2012
Last Updated: June 12, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Duke University:
severe acne
severe acne vulgaris
acne
acne vulgaris
isotretinoin
Accutane
Sortret
Amnesteem
Claravis
Clarus
Decutan
Isotane
Izotek
Oratane
Isotret
Roaccutane

Additional relevant MeSH terms:
Acne Vulgaris
Acneiform Eruptions
Skin Diseases
Facial Dermatoses
Sebaceous Gland Diseases
Isotretinoin
Dermatologic Agents
Therapeutic Uses
Pharmacologic Actions

ClinicalTrials.gov processed this record on September 18, 2014