Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)

NCT02156102 | Completed

• 2 other identifiers: 14012514-HG-0125
• Study Type: observational
• Target: 405
• Locations: 2 countries
• Sites: 3

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.

Conditions

Genetic Disease; Genomics

Keywords

Genetic Disorders; Health contributors; Multifactorial; African American; African; Natural History

Outcome Measures

Primary Outcomes (3)

• The skin microbiome

  Employ genomic approaches to characterize the skin microbiome in individuals living with SCD with and without leg ulcers

  Assessment occurs on date of visit.

• The factors that impact quality of life

  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

  Assessment occurs on date of visit.

• Sickle Cell disease severity measure

  Develop new measure of severity for SCD that integrates clinical outcomes and the quality of life of the participant

  Assessment occurs on date of visit.

Study Arms (3)

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.

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.

Non-microbiome participants

We will recruit but not obtain microbiome samples from participants with sickle cell disease

Eligibility Criteria

• Age: 18 Years - 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This is a descriptive study of individuals living with sickle cell diseases (SCD) with and without leg ulcers (accrual goal 550 participants). Leg ulcers are not observed in all individuals with SCD and we are interested in understanding why certain individuals develop leg ulcers. We will seek to include age-matched patients without leg ulcers for the microbiome phase of the study. We will recruit and sample male or female adult participants with ulcers, currently without leg ulcers, and those with no previous history of leg ulcers. To ensure we recruit an adequate number of participants with and without leg ulcers, we will rely on multiple recruiting methods, which will include posting flyers, social media advertisements, and/or referrals.

You may qualify if:

• 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).

You may not qualify if:

• Any individual that meets any of the following criteria during baseline evaluation will be excluded from the study:
• 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).

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (3)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Montefiore Medical Center/Albert Einstein College of Medicine

The Bronx, New York, 10467, United States

Location

University of Sierra Leone, College of Medicine and Allied Health Services

Freetown, Sierra Leone

Location

Related Publications (6)

• 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.

  PMID: 20872960 BACKGROUND

• 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.

  PMID: 29045487 BACKGROUND

• 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.

  PMID: 29726579 BACKGROUND

• 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.

  PMID: 38977655 DERIVED

• 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.

  PMID: 34229325 DERIVED

• 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.

  PMID: 33847032 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Laura M Koehly, Ph.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 4, 2014
• First Posted: June 5, 2014
• Study Start: June 16, 2014
• Primary Completion: October 1, 2024
• Study Completion: October 1, 2024
• Last Updated: June 1, 2026

Record last verified: 2025-12-04

Locations

SI (1); US (2)