Ectodermal DysplasiaPRIMAcultureNCT02896387
Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63
An observational study of Ectodermal Dysplasia, run by Fondation Ophtalmologique Adolphe de Rothschild at 2 sites in France.
Trial summary
Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate (EEC) and Ankyloblepharon, Ectodermal dysplasia, cleft lip and palate… Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Ectodermal Dysplasia
- How many people
- 5 participants
- Where
- 2 sitesFrance
- Study dates
- 3 Mar 2017to 1 Jan 2022
- Phase
- Observational
- 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 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patient with genetic pathology of the ocular surface
Who may be able to join
- Patient with genetic pathology of the ocular surface
- Age ≥ 7 years
Who cannot join
- Agonal glaucoma
- low vision mostly related to retinal pathology
- Pregnant or breast-feeding patient
Trial locations and contacts
2 sites in 1 country.
France2 sites
Fondation Opthalmologique A de Rothschild
Paris, 75019
Hopital Necker
Paris, 75019
About this study
Official title: Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium
Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate (EEC) and Ankyloblepharon, Ectodermal dysplasia, cleft lip and palate (AEC). Apart from symptomatic treatment, no cure is available. To understand the molecular defects associated with this disease and to identify therapeutic tools, a research team modelized the disease by reprograming EEC and AEC patient fibroblasts in pluripotent stem cells (iPSC), then induced iPSC differentiation in patients and controls epidermal (skin) and limbic (cornea) cells and demonstrated that the mutated cells can reproduce in vitro the abnormalities observed in patients.
P63 gene belongs to the family of p53 gene. The functions of the two proteins are very similar. Data suggest that molecule Prima could reactivate the p63 protein mutated in patients and thus alleviate skin defect healing and limbic regeneration.
- Conditions
- Ectodermal Dysplasia
- Medical subject headings
- Ectodermal Dysplasia
What is being measured
The primary outcome is the main question the study is designed to answer.
the differentiation of corneal epithelium by histological observation
the differentiation of corneal epithelium by histological observation
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Sep 2016 (estimated)
- Study start3 Mar 2017
- Primary completion1 Jan 2022
- Study completion1 Jan 2022
Why it stopped: Laboratory change, stem cell circuit stopped
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ectodermal DysplasiaStudies of the same condition, open and under way.
- More trials run by Fondation Ophtalmologique Adolphe de RothschildThe 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
- Investigators
- Eric GABISON, Principal investigator, Fondation ophtalmologique de Rothschild
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02896387
- Sponsor's protocol ID
- EGN_2016_14
- Acronym
- PRIMAculture
- Status last verified
- Apr 2022
- First submitted
- 29 Aug 2016
- Last updated
- 3 May 2022
- 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 3 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Ex Vivo and in Vitro Assessment of the Pharmacological Properties of Molecule Prima in the Restoration of Physiological Differentiation of Gene p63 Dependant Epithelium
- ClinicalTrials.gov ID
- NCT02896387
- Acronym / sponsor ID
- PRIMAculture / EGN_2016_14
- Conditions
- Ectodermal Dysplasia
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Laboratory change, stem cell circuit stopped
- Enrolment
- 5 participants (actual)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Collaborators
- Institut National de la Santé Et de la Recherche Médicale, France
- Study start
- 3 Mar 2017 (actual)
- Primary completion
- 1 Jan 2022 (actual)
- Study completion
- 1 Jan 2022 (actual)
- First posted
- 12 Sep 2016 (estimated)
- 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.
Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly, Ectodermal dysplasia, palate Key for cleft lip and palate (EEC) and Ankyloblepharon, Ectodermal dysplasia, cleft lip and palate (AEC). Apart from symptomatic treatment, no cure is available. To understand the molecular defects associated with this disease and to identify therapeutic tools, a research team modelized the disease by reprograming EEC and AEC patient fibroblasts in pluripotent stem cells (iPSC), then induced iPSC differentiation in patients and controls epidermal (skin) and limbic (cornea) cells and demonstrated that the mutated cells can reproduce in vitro the abnormalities observed in patients.
P63 gene belongs to the family of p53 gene. The functions of the two proteins are very similar. Data suggest that molecule Prima could reactivate the p63 protein mutated in patients and thus alleviate skin defect healing and limbic regeneration.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient with genetic pathology of the ocular surface
Key inclusion criteria (2 listed)
- Patient with genetic pathology of the ocular surface
- Age ≥ 7 years
Key exclusion criteria (3 listed)
- Agonal glaucoma
- low vision mostly related to retinal pathology
- Pregnant or breast-feeding patient
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
the differentiation of corneal epithelium by histological observation
Time frame: baseline
the differentiation of corneal epithelium by histological observation
Results and safety
The study was stopped early (reason given: Laboratory change, stem cell circuit stopped). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 May 2022.
- 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. This study is not recruiting at the moment.
Eric GABISON principal investigator
Fondation ophtalmologique de Rothschild
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Ectodermal Dysplasia, run by Fondation Ophtalmologique Adolphe de Rothschild at 2 sites 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 2 inclusion and 3 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: stopped early, as of the sponsor's last update on 3 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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 was stopped early (reason given: Laboratory change, stem cell circuit stopped). Results are not available in the source record.
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?
the differentiation of corneal epithelium by histological observation (time frame: baseline). 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 3 May 2022.