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Genes-in-Action - Hepcidin Regulation of Iron Supplementation

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03341338
Recruitment Status : Completed
First Posted : November 14, 2017
Last Update Posted : August 14, 2019
University of Oxford
Information provided by (Responsible Party):
London School of Hygiene and Tropical Medicine

Brief Summary:

Anaemia continues to be one of the most common health problems affecting children and pregnant women in low-income countries. Nutritional iron deficiency is believed to be the main driver of anaemia, so mass iron supplementation and food fortification programs have been recommended by most public health organizations. However, these interventions are frequently ineffective and new strategies are desperately needed.

Both anaemia and iron absorption are influenced by multiple factors, including nutritional status, infection, low grade inflammation and host genetics. The discovery of hepcidin, the master regulator of iron absorption and regulation has opened new avenues for investigation. Genome-wide association studies have identified several single nucleotide polymorphisms (SNPs) within hepcidin regulatory genes that are associated with altered iron status both in African populations.

The study aims to investigate the impact of genetic alterations in hepcidin regulation on oral iron absorption. A recall-by-genotype study will be conducted using an existing database of pre-genotype individuals in rural Gambia (West Kiang). This database comprise of data on >3000 Gambians, with Illumina HumanExome array data on 80K directly genotyped putative functional variants as well as imputation data on 20M variants.

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Study Type : Observational
Actual Enrollment : 206 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Assessing the Effects of Genetic Variations Within the Hepcidin Pathway Genes on Oral Iron Absorption Using a Genes-in-Action Study Design
Actual Study Start Date : September 5, 2016
Actual Primary Completion Date : March 22, 2019
Actual Study Completion Date : April 29, 2019

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. transferrin saturation (TSAT) [ Time Frame: at 5 hours ]
    TSAT level as a proxy measure for iron absorption

Secondary Outcome Measures :
  1. iron markers [ Time Frame: at baseline and at 5 hours after iron supplementation ]
    these iron biomarkers (hepcidin, serum iron levels, serum ferritin, total iron binding capacity, serum transferrin, soluble transferrin receptor (sTfR)), will be measured

  2. haematology parameters [ Time Frame: at baseline and at 5 hours after iron supplementation ]
    haematological parameters (haemoglobin, red blood cell indices measured from full blood count)

  3. inflammatory markers [ Time Frame: at baseline and at 5 hours after iron supplementation ]
    inflammatory markers (C-reactive protein),

Biospecimen Retention:   Samples With DNA
DNA will be extracted from red cell pellet left overs from plasma for iron biomarkers are removed

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Healthy adult Gambians (aged >18 years) with available genotype data from a cohort of 3118 individuals

Inclusion Criteria:

  • Be healthy and over 18 years of age old.
  • Have provided appropriate ethical consent for involvement in studies relating to genetics.
  • Have available genotype data based on previous or ongoing genetic studies. Fasted (overnight)

Exclusion Criteria:

  • Indication of infection/inflammation at the time of enrollment as determined by self-reporting, medical history or hematology (full blood count)
  • Severe anemia (HGB<7 g/dL)
  • Pregnant and lactating women
  • Carrier of known genetic variants associated with iron metabolism (sickle trait, G6PD deficiency variants, HFE polymorphisms

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03341338

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Keneba Field Station
Fajara, Gambia
Sponsors and Collaborators
London School of Hygiene and Tropical Medicine
University of Oxford
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Principal Investigator: Carla Cerami, MD, PhD Medical Research Council The Gambia
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Responsible Party: London School of Hygiene and Tropical Medicine Identifier: NCT03341338    
Other Study ID Numbers: SCC 1429
First Posted: November 14, 2017    Key Record Dates
Last Update Posted: August 14, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No