Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: blood sampling.
- Who it may be relevant to
- Registry conditions: Sezary Syndrome, Ichthyosis, Lamellar. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Phénotype Lymphocytaire Des Ichtyoses congénitales Autosomiques récessives mutées NIPAL4 (Nipal4-nEDD)
Overview
Autosomal recessive congenital ichthyoses (ARCI) are monogenic diseases of cornification that correspond to a diffuse abnormality (affecting the entire integument) of epidermal differentiation and therefore of the skin barrier. They manifest as abnormal desquamation (scaling) associated with varying degrees of inflammation (erythema). Around ten genes are currently implicated in ARCI. Nipal 4 is one of these genes, and mutations in it are found in around 1/10 of genotyped ARCI patients. As part of this follow-up, three Nipal4 ARCI (Nipal4-nEDD) patients followed by the dermatology department of Saint-Louis hospital (Paris) were diagnosed with Sezary syndrome, a rare and serious cutaneous lymphoma (incidence 1/10,000,000), in adulthood (aged 30, 46, and 82). This lymphoma was diagnosed following a change in skin phenotype with worsening erythema, pruritus, and hyperkeratosis. The occurrence of two very rare diseases ( Nipal4-nEDD) and Sezary syndrome) in three patients raises the question of a non-coincidental association. The diagnosis of Sézary syndrome is based on a specific pathological circulating lymphocyte phenotype and is confirmed by skin histology. There is currently no obvious pathophysiological explanation for the concomitant occurrence of these two skin diseases. The blood lymphocyte phenotype of Nipal 4-nEDD patients without Sezary syndrome (SS) is unknown. A first step in investigating the mechanisms that could explain such an association would be to document this baseline lymphocyte phenotype in the Nipal 4-nEDD population without known SS.
Interventions
- Other blood sampling
Supplementary blood collection performed during routine venipuncture
Primary outcome measures
- Proportion of blood lymphocyte phenotype [Time frame: 18 months]
Eligibility criteria
Inclusion criteria
- Adult patients (> 18 years old)
- ARCI-type ichthyosis with NIPAL4 mutation (Nipal4-nEDD)
Exclusion criteria
- Ichthyosis that has not been genotyped or with mutations in different genes
- Patients with concomitant inflammatory, infectious, or hematological conditions
- Individuals subject to legal protection measures or deprived of their liberty by judicial or administrative decision
- Individuals under guardianship/curatorship
- Opposition to the research
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07477769 · APH251734