Genetic and Other Aspects of Podoconiosis

NCT01939431 | Terminated

• 2 other identifiers: 99991312913-HG-N129
• Study Type: observational
• Target: 76
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- Podoconiosis is a disease of the lymph vessels in the legs and feet. It is caused by long-term barefoot exposure to irritant soils, such as those in volcanic areas. It causes severe swelling and disfigurement, as well as infection and chronic pain. It mostly affects people who live in tropical Africa, Central and South America, and India. The reasons why some people develop this disease and others do not is not well understood. Researchers want to study people with the disease and healthy volunteers in Ethiopia. They will collect skin and blood samples to study genetic and other aspects of the disease. Objectives: \- To collect skin and blood samples to study genetic and other aspects of podoconiosis. Eligibility:

• Individuals at least 18 years of age who have podoconiosis (early stage or advanced stage).
• Healthy volunteers at least 18 years of age.
• Participants will be recruited from a study clinic and hospital in Ethiopia. Design:
• Participants will be screened with a physical exam and medical history.
• Blood samples will be collected. A skin biopsy will be performed to collect tissue for study. People who have podoconiosis will provide affected and unaffected tissue. Healthy volunteers will provide a single skin biopsy sample.
• Treatment will not be provided as part of this study.

Conditions

Podoconiosis

Keywords

Podoconiosis; Ethiopian

Outcome Measures

Primary Outcomes (1)

• Natural History

  To study genetic and other aspects of podoconiosis using data from skin and blood samples.

  Ongoing

Study Arms (3)

Advanced

advanced stage podoconiosis

Control

non-podoconiosis controls

Early

early stage podoconiosis

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with podoconiosis@@@@@@

You may qualify if:

• All individuals included in our study will be adults (greater than or equal to 18 years) because the average age of onset of the disease is during the third decade of life. In addition, in Ethiopia the legal age to give independent consent for research is 18 years or older. Previous studies have shown that diagnosis of podoconiosis using physical diagnostic criteria in endemic highland areas is highly accurate. To rule out filarial elephantiasis, a rapid ICT card test will be done. Advanced stage podoconiosis cases will be included in the study based on prior assessment of an experienced surgeon (Dr Wendemagegn Enbiale Yeshanehe) who assures eligibility for nodulectomy if a patient with clinical stage III, IV or V podoconiosis has fibrotic nodules. Early clinical stage podoconiosis patients will be individuals with negative filarial test and at clinical stages I or II. Controls will be individuals with no past or current history, signs and symptoms of podoconiosis and no family history of podoconiosis.

You may not qualify if:

• In addition to clinical criteria that make patients and controls non-eligible to undergo surgery, we will also exclude individuals with skin infection, skin lesion at the prospective biopsy site, medical contradictions to biopsy, history of adenolymphangitis during the previous 2 weeks, topical steroid treatment during the previous 2 weeks, with biologically related family members that are included in the study, recent infection, use of systemic antibiotics and use of systemic steroids. Attempts will be made to enroll an equal number of men and women. No prisoners, pregnant women or fetuses will be included in this study.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

Bahir Dar University, Medical and Healath Science College

Bahir Dar, Ethiopia

Location

Related Publications (3)

• Bullard JH, Purdom E, Hansen KD, Dudoit S. Evaluation of statistical methods for normalization and differential expression in mRNA-Seq experiments. BMC Bioinformatics. 2010 Feb 18;11:94. doi: 10.1186/1471-2105-11-94.

  PMID: 20167110 BACKGROUND

• Cheng WC, Shu WY, Li CY, Tsai ML, Chang CW, Chen CR, Cheng HT, Wang TH, Hsu IC. Intra- and inter-individual variance of gene expression in clinical studies. PLoS One. 2012;7(6):e38650. doi: 10.1371/journal.pone.0038650. Epub 2012 Jun 18.

  PMID: 22723873 BACKGROUND

• Davey G, Gebrehanna E, Adeyemo A, Rotimi C, Newport M, Desta K. Podoconiosis: a tropical model for gene-environment interactions? Trans R Soc Trop Med Hyg. 2007 Jan;101(1):91-6. doi: 10.1016/j.trstmh.2006.05.002. Epub 2006 Aug 1.

  PMID: 16884751 BACKGROUND

MeSH Terms

Conditions

Elephantiasis

Condition Hierarchy (Ancestors)

Lymphedema; Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Officials

• Charles N Rotimi, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 5, 2013
• First Posted: September 11, 2013
• Study Start: August 20, 2013
• Primary Completion: December 30, 2019
• Study Completion: December 30, 2019
• Last Updated: January 14, 2021

Record last verified: 2021-01

Locations

ET (1)