Scientists hunt for genes behind rare zinc deficiency disease
NCT ID NCT02870166
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study looked at 96 people with a rare condition called acrodermatitis enteropathica, which causes severe zinc deficiency. Researchers analyzed blood samples to find genetic mutations in 56 genes related to zinc handling. The goal was to better understand the genetic causes of this disease.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could identify specific genetic mutations causing severe zinc deficiency, potentially guiding future diagnostic tests or targeted treatments.
- What could go wrong
- This is an observational genetic study with no intervention tested, so it cannot directly lead to a treatment. Results may not apply to all patients with zinc deficiency.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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96 people
The number who actually took part.
- Start date
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Jul 2012
- Finished
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Jul 2015
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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CHU de Nantes
Nantes, 44093, France
More trials for these conditions
Other studies related to the condition(s) this trial covers.