Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
NCT ID: NCT02156102
Last Updated: 2025-12-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
405 participants
OBSERVATIONAL
2014-06-16
2024-10-01
Brief Summary
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\- 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
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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.
Conditions
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Keywords
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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Microbiome with active Leg Ulcer
We will recruit and obtain microbiome samples from male or female adult participants with active leg ulcers and sickle cell disease.
No interventions assigned to this group
Microbiome with no active Leg Ulcer
We will recruit and obtain microbiome samples from male or female adult participants without active leg ulcers but do have sickle cell disease.
No interventions assigned to this group
Non-microbiome participants
We will recruit but not obtain microbiome samples from participants with sickle cell disease
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Of the total participants, we will resample the microbiome of up to 75 individuals from each of the 3 initial sampling groups: SCD with, without and never had SCD leg ulcers. Of those 75 individuals who are sampled longitudinally, those with clinically interesting cases may be sampled at multiple intervals.
All sampling, surveys, and processing of samples will take place at the NIH Clinical Center the second site, MMC, or in Sierra Leone. All samples will be stored at NIH.
To be eligible to participate in this study, an individual must meet all of the following criteria:
* All subjects must have a diagnosis of sickle cell disease (HbSS, HgSC, HbSB 0 or HBSB+)
* Be at least 18 years old.
* Provide written informed consent.
* For the Qualitative phase: must have a recurrent, active, or single-occurrence presentation of a leg ulcer(s).
Exclusion Criteria
* Pediatric population (\<18 years old)
* Participants for microbiome study (only) who have received oral and/or topical antibiotics or antifungals \< 2 weeks prior to enrolling in the study for leg ulcers (for those with leg ulcers only)
* Subjects presenting with clinically diagnosed bacterial infection (i.e. clinical appearance, clinical judgment, fever, redness around ulcer, purulent drainage etc.) at the site of ulceration. (This can only be diagnosed clinically by the research nurse during sampling
and is only applicable to those with leg ulcers only).
18 Years
120 Years
ALL
No
Sponsors
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National Human Genome Research Institute (NHGRI)
NIH
Responsible Party
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Principal Investigators
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Laura M Koehly, Ph.D.
Role: PRINCIPAL_INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Montefiore Medical Center/Albert Einstein College of Medicine
The Bronx, New York, United States
University of Sierra Leone, College of Medicine and Allied Health Services
Freetown, , Sierra Leone
Countries
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References
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Minniti CP, Eckman J, Sebastiani P, Steinberg MH, Ballas SK. Leg ulcers in sickle cell disease. Am J Hematol. 2010 Oct;85(10):831-3. doi: 10.1002/ajh.21838.
Umeh NI, Ajegba B, Buscetta AJ, Abdallah KE, Minniti CP, Bonham VL. The psychosocial impact of leg ulcers in patients with sickle cell disease: I don't want them to know my little secret. PLoS One. 2017 Oct 18;12(10):e0186270. doi: 10.1371/journal.pone.0186270. eCollection 2017.
Crouch EM, Bonham VL, Abdallah K, Buscetta A, Vinces G, Heo M, Minniti CP. Nutritional supplement profile of adults with sickle cell disease. Am J Hematol. 2018 May 4:10.1002/ajh.25129. doi: 10.1002/ajh.25129. Online ahead of print. No abstract available.
Abdallah KE, Cooper KE, Buscetta AJ, Ramirez HC, Neighbors HW, Bonham VL. An Examination of John Henryism in Adults Living with Sickle Cell Disease. J Racial Ethn Health Disparities. 2025 Aug;12(4):2335-2344. doi: 10.1007/s40615-024-02054-5. Epub 2024 Jul 8.
Raymond MB, Cooper KE, Parker LS, Bonham VL. Practices and Attitudes toward Returning Genomic Research Results to Low-Resource Research Participants. Public Health Genomics. 2021;24(5-6):241-252. doi: 10.1159/000516782. Epub 2021 Jul 6.
Desine S, Eskin L, Bonham VL, Koehly LM. Social support networks of adults with sickle cell disease. J Genet Couns. 2021 Oct;30(5):1418-1427. doi: 10.1002/jgc4.1410. Epub 2021 Apr 12.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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14-HG-0125
Identifier Type: -
Identifier Source: secondary_id
140125
Identifier Type: -
Identifier Source: org_study_id