Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)

NCT07477769 | Not Yet Recruiting

• 1 other identifier: APH251734
• Study Type: observational
• Target: 10
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Sezary Syndrome; Ichthyosis, Lamellar

Keywords

nEDD; NIPA like domain containing4 protein, human; Sezary Syndrome; Lymphocyte Immunophenotyping

Outcome Measures

Primary Outcomes (1)

• Proportion of blood lymphocyte phenotype

  Description of the complete blood lymphocyte phenotype by immunophenotyping

  18 months

Study Arms (1)

Autosomal recessive congenital ichthyoses (nEDD)

Autosomal recessive congenital ichthyoses mutated NIPAL4 (Nipal4-nEDD)

Other: blood sampling

Interventions

blood sampling OTHER

Supplementary blood collection performed during routine venipuncture

Autosomal recessive congenital ichthyoses (nEDD)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult patients (M/F) with autosomal recessive congenital ichthyoses mutated NIPAL4 (Nipal4-nEDD)

You may qualify if:

• Adult patients (\> 18 years old)
• ARCI-type ichthyosis with NIPAL4 mutation (Nipal4-nEDD)

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood

MeSH Terms

Conditions

Sezary Syndrome; Ichthyosis, Lamellar

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Lymphoma, T-Cell, Cutaneous; Lymphoma, T-Cell; Lymphoma, Non-Hodgkin; Lymphoma; Neoplasms by Histologic Type; Neoplasms; Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Infant, Newborn, Diseases; Keratosis; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Emmanuelle Bourrat, MD

CONTACT

01 42 49 90 90; emmanuelle.bourrat@aphp.fr

Jérôme Lambert, MD PhD

CONTACT

jerome.lambert@u-paris.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 12, 2026
• First Posted: March 17, 2026
• Study Start: April 1, 2026
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): October 1, 2027
• Last Updated: March 17, 2026

Record last verified: 2026-03