Skip to main content
OpenTrials
Completed

NCT Number: NCT02870166

Genetic Study of Severe Zinc Deficiencies

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Acrodermatitis Enteropathica

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU de Nantes

Nantes, 44093, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

blood sample

Other

Primary outcomes

  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

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Registry information

Official study title

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

Acronym: GENEZINC

Important dates

Study start
2012
Primary completion
2015
Study completion
2015
First posted
Aug 17, 2016
Registry last updated
Jun 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.