Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
- Conditions
- Genetic DiseaseGenomics
- Registration Number
- NCT02156102
- Lead Sponsor
- National Human Genome Research Institute (NHGRI)
- Brief Summary
Background:
- People with sickle cell disease and other blood disorders sometimes get chronic leg ulcers. These are wounds that develop on the skin and don t go away. Current treatments do not work very well, so researchers want to learn more about why the ulcers happen. They want to find out which bacteria may cause it, and if external factors play a role.
Objective:
- To study social and environmental factors of sickle cell disease and the causes of sickle cell disease leg ulcers.
Eligibility:
- People age 18 and older who have sickle cell disease or another red cell disorder, with or without an active leg ulcer.
Design:
* Participants will have a medical history and clinical evaluation. They will also have blood drawn.
* Participants will complete questionnaires about their life, health, environment, stress, and other topics.
* Participants may provide a small sample of hair.
* Participants will be asked to collect a small amount of saliva.
* Participants with leg ulcers will have their skin microbiome sampled. The microbiome is all of the microbes (bacteria and and/or fungi) and their genes in and on the body. Researchers will use swabs to collect skin samples. Photographs will be taken of the skin sample area.
* Some participants without leg ulcers also will have their skin microbiome sampled.
* Some participants who have their skin microbiome sampled will return for a second visit. At this visit, their microbiome will be resampled. It will take place more than 30 days after the first visit.
- Detailed Description
Study Description:
Leg ulcers are a serious and debilitating complication of sickle cell disease (SCD). This study will explore microbial, genomic, and environmental (social and physical) factors, that may influence the onset and progression of leg ulcer formation and delayed healing in individuals living with SCD. The etiology of SCD-associated leg ulcers is unclear, and we hypothesize that predisposition to developing leg ulcers is multifactorial. This multisite study is an exploratory study of the microbiome and environment of individuals living with sickle cell disease leg ulcers. The study s objective is to identify triggers that may be integral in leg ulcer onset and progression. The central goal of this study is to obtain an improved understanding of the participants clinical phenotype, leg ulcer microbiome and the psychosocial and environmental factors that may impact this complication.
Objectives:
Primary Objective:
Employ genomic approaches to characterize the skin microbiome in individuals living with SCD with and without leg ulcers.
Secondary Objective:
1. Employ social science research measures to identify psychosocial and physical environmental factors that impact quality of life in individuals living with SCD with and without leg ulcers.
2. Develop new measure of severity for SCD that integrates clinical outcomes and the quality of life of the participant.
3. Develop guidelines for researchers to address the needs of diverse and under-resourced groups in genetic research.
Endpoints:
Primary Endpoint:
To characterize the microbiome of leg ulcers in SCD.
Secondary Endpoints:
1. To characterize the phenotypic variation in SCD.
2. To identify similarities and differences of the microbial signatures of chronic diabetic foot ulcers and SCD leg ulcers.
3. To investigate physical and psychosocial environmental indicators that impact quality of life in individuals living with SCD with and without leg ulcers.
4. To determine if an association exists between the microbiome (microbial diversity) of SCD leg ulcers and the quality of life (psychosocial and physical environment) indicators of individuals with SCD leg ulcers.
5. To determine if an association exists between the microbiome (microbial diversity) of SCD leg ulcers and clinical phenotype of individuals with SCD leg ulcers.
6. To determine how leg ulcers influence one s physical function and one s perceptions of stigma and self-esteem.
7. To identify factors that are indicators of both quality of life and clinical severity of the participant.
8. To identify specific psychosocial and environmental factors related to resilience in our study population.
9. To investigate current practices and policies around the return of secondary findings in genome sequencing studies in under-resourced study participant populations, and to explore ethical and clinical policies for returning secondary findings by examining various practices within the research community.
10. To investigate SCD variation in phenotype, microbiome, physical and psychosocial environments in a cohort in Sierra Leone.
11. To compare similarities and differences in phenotype, microbiome, physical and psychosocial environments between U.S. and Sierra Leone cohorts.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 405
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The skin microbiome Assessment occurs on date of visit. Employ genomic approaches to characterize the skin microbiome in individuals living with SCD with and without leg ulcers
Sickle Cell disease severity measure Assessment occurs on date of visit. Develop new measure of severity for SCD that integrates clinical outcomes and the quality of life of the participant
The factors that impact quality of life Assessment occurs on date of visit. Employ social science research measures to identify psychosocial and physical environmental factors that impact quality of life in individuals living with SCD with and without leg ulcers
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (3)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States
Montefiore Medical Center/Albert Einstein College of Medicine
🇺🇸Bronx, New York, United States
University of Sierra Leone, College of Medicine and Allied Health Services
🇸🇱Freetown, Sierra Leone