Clinical Trial: Genetic Study of Severe Zinc Deficiencies

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Genetic Study Explanatory Severe Zinc Deficiencies : Multicenter, Genetics, Controlled and Prospective Study

Brief 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.

Detailed Summary:
Sponsor: Nantes University Hospital

Current Primary Outcome:

  • Homozygous mutations in the SLC39A4 gene [ Time Frame: at 3 years ]
  • heterozygous mutations in the SLC39A4 gene [ Time Frame: at 3 years ]
  • deleterious variants in 55 zinc homeostasis genes in patient [ Time Frame: at 3 years ]
  • deleterious variants in 55 zinc homeostasis genes in patient's parents [ Time Frame: at 3 years ]


Original Primary Outcome:

  • Homozygous mutations in the SLC39A4 gene [ Time Frame: M36 ]
  • heterozygous mutations in the SLC39A4 gene [ Time Frame: M36 ]
  • deleterious variants in 55 zinc homeostasis genes in patient [ Time Frame: M36 ]
  • deleterious variants in 55 zinc homeostasis genes in patient's parents [ Time Frame: M36 ]


Current Secondary Outcome:

Original Secondary Outcome:

Information By: Nantes University Hospital

Dates:
Date Received: August 12, 2016
Date Started: July 2012
Date Completion:
Last Updated: August 17, 2016
Last Verified: August 2016