Genetic Study of Severe Zinc Deficiencies

Acrodermatitis Enteropathica Clinical Trial

— GENEZINC  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02870166
• Other study ID #: RC12_0193
• Status: Completed
• Phase: N/A
• First received: August 12, 2016
• Last updated: August 17, 2016
• Start date: July 2012
• Est. completion date: July 2015

Study information

• Verified date: August 2016
• Source: Nantes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Comité consultatif sur le traitement de l'information en matière de recherche dans le domaine de la santéFrance: Commission nationale de l'informatique et des libertés
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 96
• Est. completion date: July 2015
• Est. primary completion date: July 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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.

Study Design

Observational Model: Family-Based, Time Perspective: Prospective

Related Conditions & MeSH terms

• Acrodermatitis Enteropathica

Intervention

Other:
• blood sample

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Nantes University Hospital

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Homozygous mutations in the SLC39A4 gene		at 3 years	No
Primary	heterozygous mutations in the SLC39A4 gene		at 3 years	No
Primary	deleterious variants in 55 zinc homeostasis genes in patient		at 3 years	No
Primary	deleterious variants in 55 zinc homeostasis genes in patient's parents		at 3 years	No