Sezary SyndromeNIPALYMPHONCT07477769
Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)
An observational study of Sezary Syndrome and Ichthyosis, Lamellar, run by Assistance Publique - Hôpitaux de Paris.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Sezary Syndrome, Ichthyosis, Lamellar
- What is being tested?
- blood sampling
- How many people
- 10 participants
- Where
- No sites listed yet
- Study dates
- 1 Apr 2026to 1 Oct 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Adult patients (M/F) with autosomal recessive congenital ichthyoses mutated NIPAL4 (Nipal4-nEDD)
Who may be able to join
- Adult patients (> 18 years old)
- ARCI-type ichthyosis with NIPAL4 mutation (Nipal4-nEDD)
Who cannot join
- 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
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
Jérôme Lambert, MD PhD contact
About this study
Official title: Phénotype Lymphocytaire Des Ichtyoses congénitales Autosomiques récessives mutées NIPAL4 (Nipal4-nEDD)
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
- Being tested
- blood sampling
- Keywords
- nEDD, NIPA like domain containing4 protein, human, Sezary Syndrome, Lymphocyte Immunophenotyping
- Medical subject headings
- Sezary Syndrome, Ichthyosis, Lamellar
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood samplingOther
Supplementary blood collection performed during routine venipuncture
| Study group | Role | What they receive |
|---|---|---|
| Autosomal recessive congenital ichthyoses (nEDD) | Autosomal recessive congenital ichthyoses mutated NIPAL4 (Nipal4-nEDD) Receives: Other: blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of blood lymphocyte phenotype
Description of the complete blood lymphocyte phenotype by immunophenotyping
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2026
- Study start1 Apr 2026 (estimated)
- Primary completion1 Oct 2027 (estimated)
- Study completion1 Oct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sezary SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07477769
- Sponsor's protocol ID
- APH251734
- Acronym
- NIPALYMPHO
- Status last verified
- Mar 2026
- First submitted
- 12 Mar 2026
- Last updated
- 17 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phénotype Lymphocytaire Des Ichtyoses congénitales Autosomiques récessives mutées NIPAL4 (Nipal4-nEDD)
- ClinicalTrials.gov ID
- NCT07477769
- Acronym / sponsor ID
- NIPALYMPHO / APH251734
- Conditions
- Sezary Syndrome, Ichthyosis, Lamellar
- Keywords
- nEDD, NIPA like domain containing4 protein, human, Sezary Syndrome, Lymphocyte Immunophenotyping
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 1 Apr 2026 (estimated)
- Primary completion
- 1 Oct 2027 (estimated)
- Study completion
- 1 Oct 2027 (estimated)
- First posted
- 17 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Autosomal recessive congenital ichthyoses (nEDD) | – | Other: blood samplingAutosomal recessive congenital ichthyoses mutated NIPAL4 (Nipal4-nEDD) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Adult patients (M/F) with autosomal recessive congenital ichthyoses mutated NIPAL4 (Nipal4-nEDD)
Key inclusion criteria (2 listed)
- Adult patients (> 18 years old)
- ARCI-type ichthyosis with NIPAL4 mutation (Nipal4-nEDD)
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood samplingSupplementary blood collection performed during routine venipuncture | Other | Autosomal recessive congenital ichthyoses (nEDD) |
Primary outcome
Proportion of blood lymphocyte phenotype
Time frame: 18 months
Description of the complete blood lymphocyte phenotype by immunophenotyping
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Jérôme Lambert, MD PhD contact
Questions about this trial
What is this clinical trial studying?
An observational study of Sezary Syndrome and Ichthyosis, Lamellar, run by Assistance Publique - Hôpitaux de Paris.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 17 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Emmanuelle Bourrat, MD (01 42 49 90 90 ext. +33, emmanuelle.bourrat@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Proportion of blood lymphocyte phenotype (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2026.