Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers
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.
⁃ We will enroll up to four-hundred and fifty (N=450) participants in the microbiome sampling cohort. In addition to the 300 SCD leg ulcer microbiome participants, we will recruit up to an additional 200-250 SCD participants that will complete the clinical evaluation, (including blood sample) and survey instruments for a total of up to 550 participants at three sites, NIH (n=200) and MMC (n=100), and Sierra Leone (n=250).
⁃ 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).
• For the resilience study analysis: cohort will be determined by the research team based on the results of part I of this analysis. For part I, the inclusion criteria are that the individual must have enrolled and completed the INSIGHTS study.