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Genetic Study of Severe Zinc Deficiencies

NCT02870166 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 96

Last updated 2016-08-18

No results posted yet for this study

Summary

Given the structural essential, catalytic and co-catalytic played by zinc in many sections of protein metabolism, carbohydrate and lipid (zinc is involved in the function of more than 300 metalloenzymes and metalloproteins), one can imagine the impact of a deficiency or even a sub-chronic zinc deficiency on the health of the individual. Studies multiply that show that, long-term, marginal zinc deficiency is a risk factor for the development of cancer or neurodegenerative complex diseases (eg Alzheimer's disease). In addition, the short-term zinc deficiencies foster the development of skin conditions and susceptibility to viral and bacterial infections. The aim of this project is to identify, in the population of patients with pseudo-acrodermatitis enteropathica (AE) tested in the investigators laboratory, rare variants (mutations "real" epimutations or polymorphisms) located in solute carrier family 39 member 4 (SLC39A4) gene or in 55 other genes chosen for their role in zinc homeostasis.

Conditions

  • Acrodermatitis Enteropathica

Interventions

OTHER

blood sample

Sponsors & Collaborators

  • Nantes University Hospital

    lead OTHER

Principal Investigators

  • Stephane BEZIEAU, PU-PH · Nantes University Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-07-31
Primary Completion
2015-07-31
Completion
2015-07-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02870166 on ClinicalTrials.gov