Genetic Study of Severe Zinc Deficiencies (GENEZINC)
![]() |
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT02870166 |
Recruitment Status :
Completed
First Posted : August 17, 2016
Last Update Posted : August 18, 2016
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
Condition or disease | Intervention/treatment |
---|---|
Acrodermatitis Enteropathica | Other: blood sample |
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 |

- 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 ]
Biospecimen Retention: Samples With DNA

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | Child, Adult, Older Adult |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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.

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
Principal Investigator: | Stephane BEZIEAU, PU-PH | Nantes University Hospital |
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 |
Acrodermatitis Skin Abnormalities Congenital Abnormalities Dermatitis Skin Diseases |