An observational study in Genetic Disease and Genomics, sponsored by National Human Genome Research Institute (NHGRI). Completed at 3 sites in 2 countries. Open to participants aged 18 Years to 120 Years. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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:
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:
Endpoints:
Primary Endpoint:
To characterize the microbiome of leg ulcers in SCD.
Secondary Endpoints:
583 studies on the registry are indexed under Genetic Diseases, Inborn; 157 are open to participants now.
This study's enrollment of 405 is above the median of 151 across 239 observational studies indexed under Genetic Diseases, Inborn.
Browse Genetic Diseases, Inborn studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
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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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
EXCLUSION CRITERIA:
Any individual that meets any of the following criteria during baseline evaluation will be excluded from the study:
and is only applicable to those with leg ulcers only).
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
We will recruit and obtain microbiome samples from male or female adult participants with active leg ulcers and sickle cell disease.
We will recruit and obtain microbiome samples from male or female adult participants without active leg ulcers but do have sickle cell disease.
We will recruit but not obtain microbiome samples from participants with sickle cell disease
The skin microbiome
Employ genomic approaches to characterize the skin microbiome in individuals living with SCD with and without leg ulcers
Time frame: 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
Time frame: 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
Time frame: Assessment occurs on date of visit.
This study is completed, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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National Human Genome Research Institute (NHGRI) →