Autosomal Recessive Congenital IchthyosisOMICHTYOSENCT05312073
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
A study testing Biological samples and Skin biopsy in people with Autosomal Recessive Congenital Ichthyosis and Epidermolytic Ichthyosis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis. Read more about this study
- Who is it for?
- Ages 15 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis
- What is being tested?
- Biological samples and Skin biopsy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 18 participants
- Where
- 1 siteFrance
- Study dates
- 7 Dec 2022to 6 Apr 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
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 15 to 80 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Aged 15-80 years old
- Having an ARCI or EI, confirmed by a molecular diagnosis of a mutation in at least one of the following genes: TGM1, ALOX12B, NIPAL4, ABCA12, keratin 1 and keratin 10)
- Having stopped all topical treatments in at least 1% of the total body surface (equivalent to one palm of the hand of the patient), at least 8 days before the skin biopsy (which will be performed on this untreated area).
- Patients having a molecular diagnostic of genetic ichtyosis
- No contraindication to skin biopsy
- Health insurance coverage
- Signature of written consent
Who cannot join
- Aged less than 15 of over 80 years old
- Ichtyosis without a molecular confirmed diagnosis or with a different diagnosis
- History, in the 8 previous days, of any topical treatment on the area intended for the skin biopsy.
- No health insurance coverage
- Pregnant or breastfeeding woman
- Patient under guardianship or curatorship
- Patient under State Medical Assistance (AME)
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
- Being tested
- Biological samples, Skin biopsy
- Medical subject headings
- Hyperkeratosis, Epidermolytic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological samplesOther
Blood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping
Skin biopsyOther
healthy skin from surgery interventions
| Study group | Role | What they receive |
|---|---|---|
| Patients with ichtyosis | Other | Not described Receives: Other: Biological samples |
| Patients without ichtyosis | Other | Not described Receives: Other: Skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies
A two-fold increase or decrease in the transcript or protein levels between patients with different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify "upregulated" and "downregulated" genes.
Measured: Up to 6 months post inclusion
Secondary outcomes (2)
Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)
To determine, in vitro, the contribution from ARCI and EI keratinocytes in the overall transcriptomic and proteomic signature observed in vivo. A two-fold increase or decrease in the transcript or protein levels between patients and controls (th different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify "upregulated" and "downregulated" genes.
Measured: Up to 6 months post inclusion
Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)
Measured: Up to 6 months post inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Apr 2022
- Study start7 Dec 2022
- Primary completion6 Apr 2024
- Study completion6 Apr 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Recessive Congenital IchthyosisStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 18 participants (actual)
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
- NCT05312073
- Sponsor's protocol ID
- APHP210692
- Acronym
- OMICHTYOSE
- Status last verified
- Jul 2024
- First submitted
- 10 Dec 2021
- Last updated
- 16 Jul 2024
- 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 16 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of In Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
- ClinicalTrials.gov ID
- NCT05312073
- Acronym / sponsor ID
- OMICHTYOSE / APHP210692
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 7 Dec 2022 (actual)
- Primary completion
- 6 Apr 2024 (actual)
- Study completion
- 6 Apr 2024 (actual)
- First posted
- 5 Apr 2022 (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.
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with ichtyosis | Other | Other: Biological samples |
| Patients without ichtyosis | Other | Other: Skin biopsy |
Who may qualify
- Ages
- 15 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Aged 15-80 years old
- Having an ARCI or EI, confirmed by a molecular diagnosis of a mutation in at least one of the following genes: TGM1, ALOX12B, NIPAL4, ABCA12, keratin 1 and keratin 10)
- Having stopped all topical treatments in at least 1% of the total body surface (equivalent to one palm of the hand of the patient), at least 8 days before the skin biopsy (which will be performed on this untreated area).
- Patients having a molecular diagnostic of genetic ichtyosis
- No contraindication to skin biopsy
Key exclusion criteria (7 listed)
- Aged less than 15 of over 80 years old
- Ichtyosis without a molecular confirmed diagnosis or with a different diagnosis
- History, in the 8 previous days, of any topical treatment on the area intended for the skin biopsy.
- No health insurance coverage
- Pregnant or breastfeeding woman
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 |
|---|---|---|
| Biological samplesBlood samples Superficial skin Biopsy Collection of fallen squames Tapes - stripping | Other | Patients with ichtyosis |
| Skin biopsyhealthy skin from surgery interventions | Other | Patients without ichtyosis |
Primary outcome
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies
Time frame: Up to 6 months post inclusion
A two-fold increase or decrease in the transcript or protein levels between patients with different ARCI, EI, and between ARCI and EI patients and healthy controls (patients without ichtyosis) will allow to identify "upregulated" and "downregulated" genes.
2 secondary outcomes
Transcript and protein levels of all genes assessed by NGS mRNA sequencing and by mass spectrometry (keratinocytes)
Time frame: Up to 6 months post inclusion
Phenotype of circulating PBMCS assessed by flow cytometry analysis using monoclonal Antibodies (mAbs)
Time frame: Up to 6 months post inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2024.
- Individual participant dataSharing planned: Undecided
Related trials for Autosomal Recessive Congenital Ichthyosis
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Lymphocyte Phenotype of Autosomal Recessive Congenital Ichthyoses Mutated NIPAL4 (Nipal4-nEDD)
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Biological samples and Skin biopsy in people with Autosomal Recessive Congenital Ichthyosis and Epidermolytic Ichthyosis, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 7 inclusion and 7 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: finished, as of the sponsor's last update on 16 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Transcript and protein levels of all genes measured by NGS mRNA sequencing and by mass spectrometry in lesioned skin biopsies (time frame: Up to 6 months post inclusion). 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 16 Jul 2024.