Pseudoxanthoma ElasticumNCT00555113
Evolution of Visual Impairment During Pseudoxanthoma Elasticum
An observational study of Pseudoxanthoma Elasticum, run by European Georges Pompidou Hospital at 1 site in France.
Trial summary
Pseudoxanthoma elasticum is a disease whom frequency is estimated about 1/50000 to 1/100 000. There is a female preponderance with a sex-ratio of 2:1. PXE is transmitted according either to an autosomal dominant mode or to an autosomal recessive one. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pseudoxanthoma Elasticum
- How many people
- 38 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2000to Sep 2007
- 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 with pseudoxanthoma elasticum confirmed by the Department of Genetics according to the usual clinical, histological or genetic criterion.
Who may be able to join
- pseudoxanthoma elasticum confirmed by the Department of Genetics according to the usual clinical, histological or genetic criterion.
Who cannot join
- No pseudoxanthoma elasticum
Trial locations and contacts
1 site in 1 country.
About this study
Pseudoxanthoma elasticum is a disease whom frequency is estimated about 1/50000 to 1/100 000. There is a female preponderance with a sex-ratio of 2:1. PXE is transmitted according either to an autosomal dominant mode or to an autosomal recessive one. Mutations in the ABCC6 gene on chromosome 16p13.1 have recently been identified causing PXE. The elastic fibers slowly become mineralized mainly in the skin, the eyes, and the cardiovascular system. PXE is a multisystem disease that includes a spectrum of clinical manifestations affecting the skin, the eye or the cardiovascular system as well as other tissues. It can be responsible for severe and life threatening complications. Skin changes are usually the first manifestations and begin in early childhood. The vital prognosis of PXE depends on the severity of the cardiovascular lesions that could be responsible for sudden death in children and young adults.
Ocular manifestations are quite constant and include chorioretinal scarring, pigmentary changes or angioid streaks. The natural evolution of the angioid streaks leads to their enlargement or to the occurrence of subfoveal choroidal neovascularizations and hemorrhages leaving macular scares. A self-monitoring is recommended since early treatment of subfoveal CNV is the only way to minimize their pejorative consequences. The gold standard treatment of the CNV consists in the photocoagulation. New therapeutics has been developed including photodynamic therapy or intravitreal injection of anti-angiogenic agents and they seems to be effective to reduce the immediate complications of a limited CNV. This evolution explains that 50 to 70 % of the patients have a poor vision or legal blindness of one or both eyes. However, little is known about the age of occurrence of visual impairment in PXE patients. That is the reason why we decided to review the ophthalmologic status and visual history of our population of PXE patients according to their age.
Read the detailed description
A retrospective review of all cases of PXE patients referred by the Department of Genetics should be performed. This ophthalmologic examination has been conducted as part of the usual follow up for such PXE patients or for the needs of a treatment of complications of angioid streaks such as CNV complications.
As we studied the age of poor vision occurrence, we propose to take in account the first examination when a best-corrected visual acuity (BCVA) under 20/50 was observed. All past medical events obtains from the data of the patients will be recorded, especially ophthalmologic ones.
- Conditions
- Pseudoxanthoma Elasticum
- Keywords
- pseudoxanthoma elasticum, Visual acuity, Choroidal neovascularization, angioid streaks
- Medical subject headings
- Pseudoxanthoma Elasticum, Choroidal Neovascularization, Angioid Streaks
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 |
|---|---|---|
| 1 | pseudoxanthoma elasticum |
What is being measured
The primary outcome is the main question the study is designed to answer.
Visual acuity according to age
Measured: 7 years
Secondary outcomes (1)
Macular aspect and outcoming of choroidal neovascularization
Measured: 7 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Nov 2007 (estimated)
- Study startJan 2000
- Study completionSep 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Pseudoxanthoma ElasticumStudies of the same condition, open and under way.
- 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
- Retrospective
- Enrolment
- 38 participants (actual)
Sponsor and investigators
- Lead sponsor
- European Georges Pompidou Hospital
- Sponsor type
- University, hospital or other
- Investigators
- Christophe ORSSAUD, MD, Principal investigator, department of ophthalmology, HEGP, AP - HP, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00555113
- Sponsor's protocol ID
- 2
- Status last verified
- Nov 2007
- First submitted
- 6 Nov 2007
- Last updated
- 7 Nov 2007
- Results posted
- No
- Data monitoring committee
- No
Publications
Pakalnis L, Makoroto J. Reproduction and the test tube baby. Can Nurse. 1977 Feb;73(2):34-8.
PubMed 264800
Study at a glance
From the registry record, last updated by the sponsor on 7 Nov 2007. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evolution of Visual Impairment During Pseudoxanthoma Elasticum
- ClinicalTrials.gov ID
- NCT00555113
- Acronym / sponsor ID
- 2
- Conditions
- Pseudoxanthoma Elasticum
- Keywords
- pseudoxanthoma elasticum, Visual acuity, Choroidal neovascularization, angioid streaks
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 38 participants (actual)
- Lead sponsor
- European Georges Pompidou HospitalUniversity, hospital or other
- Study start
- Jan 2000
- Study completion
- Sep 2007 (actual)
- First posted
- 7 Nov 2007 (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.
Pseudoxanthoma elasticum is a disease whom frequency is estimated about 1/50000 to 1/100 000. There is a female preponderance with a sex-ratio of 2:1. PXE is transmitted according either to an autosomal dominant mode or to an autosomal recessive one. Mutations in the ABCC6 gene on chromosome 16p13.1 have recently been identified causing PXE. The elastic fibers slowly become mineralized mainly in the skin, the eyes, and the cardiovascular system. PXE is a multisystem disease that includes a spectrum of clinical manifestations affecting the skin, the eye or the cardiovascular system as well as other tissues. It can be responsible for severe and life threatening complications. Skin changes are usually the first manifestations and begin in early childhood. The vital prognosis of PXE depends on the severity of the cardiovascular lesions that could be responsible for sudden death in children and young adults.
Ocular manifestations are quite constant and include chorioretinal scarring, pigmentary changes or angioid streaks. The natural evolution of the angioid streaks leads to their enlargement or to the occurrence of subfoveal choroidal neovascularizations and hemorrhages leaving macular scares. A self-monitoring is recommended since early treatment of subfoveal CNV is the only way to minimize their pejorative consequences. The gold standard treatment of the CNV consists in the photocoagulation. New therapeutics has been developed including photodynamic therapy or intravitreal injection of anti-angiogenic agents and they seems to be effective to reduce the immediate complications of a limited CNV. This evolution explains that 50 to 70 % of the patients have a poor vision or legal blindness of one or both eyes. However, little is known about the age of occurrence of visual impairment in PXE patients. That is the reason why we decided to review the ophthalmologic status and visual history of our population of PXE patients according to their age.
Detailed description
A retrospective review of all cases of PXE patients referred by the Department of Genetics should be performed. This ophthalmologic examination has been conducted as part of the usual follow up for such PXE patients or for the needs of a treatment of complications of angioid streaks such as CNV complications.
As we studied the age of poor vision occurrence, we propose to take in account the first examination when a best-corrected visual acuity (BCVA) under 20/50 was observed. All past medical events obtains from the data of the patients will be recorded, especially ophthalmologic ones.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –pseudoxanthoma elasticum |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients with pseudoxanthoma elasticum confirmed by the Department of Genetics according to the usual clinical, histological or genetic criterion.
Key inclusion criteria (1 listed)
- pseudoxanthoma elasticum confirmed by the Department of Genetics according to the usual clinical, histological or genetic criterion.
Key exclusion criteria (1 listed)
- No pseudoxanthoma elasticum
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
Visual acuity according to age
Time frame: 7 years
1 secondary outcome
Macular aspect and outcoming of choroidal neovascularization
Time frame: 7 years
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 7 Nov 2007.
- Background: PubMed 264800Pakalnis L, Makoroto J. Reproduction and the test tube baby. Can Nurse. 1977 Feb;73(2):34-8.
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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.
Christophe ORSSAUD, MD principal investigator
department of ophthalmology, HEGP, AP - HP, France
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 European Georges Pompidou Hospital 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 1 inclusion and 1 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 7 Nov 2007. 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?
Visual acuity according to age (time frame: 7 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00555113, which also lists 1 linked publication.
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 7 Nov 2007.