Genetic Study of Severe Zinc Deficiencies

Brief Title

Genetic Study of Severe Zinc Deficiencies

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.

Study Type


Primary Outcome

Homozygous mutations in the SLC39A4 gene


Acrodermatitis Enteropathica


blood sample


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

July 2012

Completion Date

July 2015

Primary Completion Date

July 2015

Eligibility Criteria

        Inclusion Criteria:

          -  Are included all patients (minors included) with suggestive symptoms and biological
             signs of a hereditary deficiency of zinc, appeared for the first time at birth or
             weaning (see description given in the introduction);

          -  Clinical diagnosis of zinc deficiency must be made by a specialist dermatologist,
             pediatrician or gastroenterologist;

          -  Zinc deficiency has been audited by an assay of serum zinc, erythrocyte, plasma, urine
             or hair;

          -  The response of all symptoms and signs to zinc oral supplementation should be rapid
             and complete.

        Exclusion Criteria:

          -  All patients with homozygous or compound heterozygous mutations in the SLC39A4 gene
             are excluded because they have a proven acrodermatitis enteropathica (AE);

          -  All patients who developed their first symptoms of zinc deficiency outside the
             neonatal period, most likely because they have an acquired deficiency and not

          -  All patients with probable cause of zinc deficiency that is surgery of the digestive
             tract, chronic digestive disease, or total parenteral nutrition.




N/A - N/A

Accepts Healthy Volunteers



Stephane BEZIEAU, PU-PH, , 

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Nantes University Hospital

Study Sponsor

Stephane BEZIEAU, PU-PH, Principal Investigator, Nantes University Hospital

Verification Date

August 2016