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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
Sponsor:
Information provided by (Responsible Party):
Nantes University Hospital

Tracking Information
First Submitted Date August 12, 2016
First Posted Date August 17, 2016
Last Update Posted Date August 18, 2016
Study Start Date July 2012
Actual Primary Completion Date July 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: August 17, 2016)
  • 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 Measures
 (submitted: August 16, 2016)
  • 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 ]
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
blood samples
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.
Condition Acrodermatitis Enteropathica
Intervention Other: blood sample
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: August 16, 2016)
96
Original Actual Enrollment Same as current
Actual Study Completion Date July 2015
Actual Primary Completion Date July 2015   (Final data collection date for primary outcome measure)
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 congenital;
  • All patients with probable cause of zinc deficiency that is surgery of the digestive tract, chronic digestive disease, or total parenteral nutrition.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT02870166
Other Study ID Numbers RC12_0193
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Nantes University Hospital
Study Sponsor Nantes University Hospital
Collaborators Not Provided
Investigators
Principal Investigator: Stephane BEZIEAU, PU-PH Nantes University Hospital
PRS Account Nantes University Hospital
Verification Date August 2016