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Genetic Study of Severe Zinc Deficiencies (GENEZINC)

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ClinicalTrials.gov Identifier: NCT02870166
Recruitment Status : Completed
First Posted : August 17, 2016
Last Update Posted : August 18, 2016
Information provided by (Responsible Party):
Nantes University Hospital

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.

Condition or disease Intervention/treatment
Acrodermatitis Enteropathica Other: blood sample

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Study Type : Observational
Actual Enrollment : 96 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Study Explanatory Severe Zinc Deficiencies : Multicenter, Genetics, Controlled and Prospective Study
Study Start Date : July 2012
Actual Primary Completion Date : July 2015
Actual Study Completion Date : July 2015

Primary Outcome Measures :
  1. Homozygous mutations in the SLC39A4 gene [ Time Frame: at 3 years ]
  2. heterozygous mutations in the SLC39A4 gene [ Time Frame: at 3 years ]
  3. deleterious variants in 55 zinc homeostasis genes in patient [ Time Frame: at 3 years ]
  4. deleterious variants in 55 zinc homeostasis genes in patient's parents [ Time Frame: at 3 years ]

Biospecimen Retention:   Samples With DNA
blood samples

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The investigators had therefore selected 96 individuals for the project. They correspond either to the patients themselves (ie the index case tested in the laboratory) or to mothers and / or fathers of patients who accompany their child consultation. For each of them, the analysis will focus on the genomic DNA was extracted from peripheral blood leukocytes and is stored in the sample bank of DNA laboratory. Note that twenty patients seen by our collaborator neurologist, Prof. Vincent Ramaekers (Belgium) are a subgroup separately in our study, since all have autistic disorders responsive to the zinc, in addition to zinc deficiency. By studying these patients in particular clinical picture, we already approach the possible consequences of zinc deficiency on complex diseases.

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

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 ClinicalTrials.gov identifier (NCT number): NCT02870166

Sponsors and Collaborators
Nantes University Hospital
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Principal Investigator: Stephane BEZIEAU, PU-PH Nantes University Hospital
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Responsible Party: Nantes University Hospital
ClinicalTrials.gov Identifier: NCT02870166    
Other Study ID Numbers: RC12_0193
First Posted: August 17, 2016    Key Record Dates
Last Update Posted: August 18, 2016
Last Verified: August 2016
Additional relevant MeSH terms:
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Skin Abnormalities
Congenital Abnormalities
Skin Diseases