Pseudoxanthoma ElasticumNCT01446380
Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
An observational study of Pseudoxanthoma Elasticum, run by University Hospital, Angers at 1 site in France.
Trial summary
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pseudoxanthoma Elasticum
- How many people
- 350 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2008to Jan 2021
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients diagnosed for a PXE disease from any part of France and requesting a follow-up and clinical management of there disease (opthalmic and vascular complications mainly).
Who may be able to join
- Patients with PXE disease
- Informed consent obtained
- Patient affiliated to Health care system (french social security)
Who cannot join
- No informed consent
- No affiliation to a Health care system
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
University Hospital of Angers
Angers, Pays de Loire, 49933
Ludovic MARTIN, MD-PhD, 33(0)2-41-35-34-19, LuMartin@chu-angers.fr
Georges LEFTHERIOTIS, MD-PhD, 33(0)2-41-35-44-56, GeLeftheriotis@chu-angers.fr
About this study
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).
Read the detailed description
This national french cohort is intended to improve our knowledge on the PXE disease. The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. All investigations are included in a yearly follow-up for these patients and collected in a database.
Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic (DNA) material extracted from diagnostic skin biopsy. French Ministry of Teaching and Research Authorisation number for the PXE collection is AC 2008 871. Declarative number is DC 2008 870.
- Conditions
- Pseudoxanthoma Elasticum
- Medical subject headings
- Pseudoxanthoma Elasticum
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pseudoxanthoma elasticum | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Oct 2011 (estimated)
- Study startJun 2008
- Primary completionJan 2020 (estimated)
- Study completionJan 2021 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- More trials run by University Hospital, AngersThe 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
- 350 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Ludovic MARTIN, MD PhD, Study director, UH Angers
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01446380
- Sponsor's protocol ID
- AC 2008 871
- Status last verified
- Oct 2009
- First submitted
- 3 Feb 2010
- Last updated
- 5 Oct 2011
- Results posted
- No
- Data monitoring committee
- No
Publications
Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x. Epub 2009 Jun 9.
PubMed 19519828Martin L, Maitre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol. 2008 Mar;144(3):301-6. doi: 10.1001/archderm.144.3.301.
PubMed 18347285Biere L, Donal E, Terrien G, Furber A, Martin L, Prunier F. Left ventricular function in a large cohort of pseudoxanthoma elasticum patients. PLoS One. 2014 Mar 20;9(3):e90364. doi: 10.1371/journal.pone.0090364. eCollection 2014.
PubMed 24651258
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort
- ClinicalTrials.gov ID
- NCT01446380
- Acronym / sponsor ID
- AC 2008 871
- Conditions
- Pseudoxanthoma Elasticum
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 350 participants (estimated)
- Lead sponsor
- University Hospital, AngersOther government
- Study start
- Jun 2008
- Primary completion
- Jan 2020 (estimated)
- Study completion
- Jan 2021 (estimated)
- First posted
- 5 Oct 2011 (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.
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).
Detailed description
This national french cohort is intended to improve our knowledge on the PXE disease. The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. All investigations are included in a yearly follow-up for these patients and collected in a database.
Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic (DNA) material extracted from diagnostic skin biopsy. French Ministry of Teaching and Research Authorisation number for the PXE collection is AC 2008 871. Declarative number is DC 2008 870.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pseudoxanthoma elasticum | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnosed for a PXE disease from any part of France and requesting a follow-up and clinical management of there disease (opthalmic and vascular complications mainly).
Key inclusion criteria (3 listed)
- Patients with PXE disease
- Informed consent obtained
- Patient affiliated to Health care system (french social security)
Key exclusion criteria (2 listed)
- No informed consent
- No affiliation to a Health care system
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
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Oct 2011.
- Background: PubMed 19519828Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol. 2009 Sep;161(3):635-9. doi: 10.1111/j.1365-2133.2009.09298.x. Epub 2009 Jun 9.
- Background: PubMed 18347285Martin L, Maitre F, Bonicel P, Daudon P, Verny C, Bonneau D, Le Saux O, Chassaing N. Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol. 2008 Mar;144(3):301-6. doi: 10.1001/archderm.144.3.301.
- Derived from this study: PubMed 24651258Biere L, Donal E, Terrien G, Furber A, Martin L, Prunier F. Left ventricular function in a large cohort of pseudoxanthoma elasticum patients. PLoS One. 2014 Mar 20;9(3):e90364. doi: 10.1371/journal.pone.0090364. eCollection 2014.
Related trials for Pseudoxanthoma Elasticum
Recruiting
Purinergic Compounds in Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
RecruitingObservational study
Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)
Pseudoxanthoma Elasticum
Recruiting
CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum, Tomography, Optical Coherence
RecruitingObservational study
Progression Assessment of PXE-associated Alterations
Pseudoxanthoma Elasticum, Angioid Streaks
Active, not recruitingObservational study
Progression Rate of Pseudoxanthoma Elasticum-associated Choroidal and Retinal Degeneration
Pseudoxanthoma Elasticum
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.
Ludovic MARTIN, MD PhD study director
UH Angers
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudoxanthoma Elasticum, run by University Hospital, Angers 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 3 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 5 Oct 2011. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ludovic MARTIN, MD PhD (33(2)41-35-34-19, LuMartin@chu-angers.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01446380, which also lists 3 linked publications.
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 5 Oct 2011; AzTrials last refreshed its copy on 6 Nov 2026.