Pseudoxanthoma ElasticumREMOTE-PXENCT06636344
Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)
An observational study of Pseudoxanthoma Elasticum, run by University Hospital, Angers at 1 site in France.
Trial summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by ectopic calcifications in the skin, retina and arterial walls. Angers University Hospital is the national rare disease reference center (CRMR) for PXE. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Pseudoxanthoma Elasticum
- What is being tested?
- Pseudoxanthoma Elasticum
- How many people
- 650 participants
- Where
- 1 siteFrance
- Study dates
- 9 Feb 2026to Jan 2031
- 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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients belonging to the CRMR active cohort will be defined by: * for new patients: patients for whom CRMR care has been provided, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR team) was provided within a maximum of 3 months after an initial contact made during the period of interest * for patients already in the CRMR active file (patients who have benefited from at least one care in the last 5 years): patients for whom the CRMR care provided for the period, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR multidisciplinary team, was provided in accordance with the planned frequency with a tolerance window of 6 months.
Who may be able to join
- For the main objective and the first secondary objectives : The population taken into account corresponds to all the support and requests managed by the CRMR over the periods of interest (period A1-2 and period A5-6).
- Inclusion in REMOTE-PXE is offered to any patient with a PXE, defined phenotypically or genotypically (see below), treated at the CRMR during the periods of interest. Note that inclusions are independent between the 2 periods (a patient included during period A1-2 can be included again if he/she is treated during period A5-6). PXE is defined phenotypically:
- by the presence of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) in patients under 25 years of age
- OR by the combination of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) and specific ophthalmologic lesions, complicated or not (depending on age: orange peel, angioid streaks, retinal dystrophy) over 25 years of age PXE is defined genotypically, regardless of the patient\'s age, by the identification of two variants in the ABCC6 gene.
- Participation in the qualitative study (semi-directed interviews) will be offered to a sample of patients included in the RIPH during the A5-A6 period among patients who were already followed before the A3-A4 period since the objective is to collect their experiences and perceptions of this reorganization of care. Only patients agreeing to participate in this sub-study and giving their consent for the recording of the interviews will be included.
Who cannot join
- Person objecting to participating in the research
- Patient under curatorship, guardianship and legal protection
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Angers
Angers, 49033
Ludovic Martin, Pr, 0241353419, LuMartin@chu-angers.fr
About this study
Official title: Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE) by the PXE Reference Center at the CHU in Angers, France, Thanks to the Implementation of Alternating Pathways, Adapted to Age and Symptomatology, and Including Teleconsultations
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by ectopic calcifications in the skin, retina and arterial walls. Angers University Hospital is the national rare disease reference center (CRMR) for PXE. Although PXE is hereditary, its main clinical manifestations (unsightly skin lesions, intermittent arterial claudication, stroke, retinal bleeding and blindness) are delayed and slowly progress over the course of a lifetime. They are rarely life-threatening but have a major functional impact. To date, management of PXE is purely preventive and symptomatic. Three successive "states" can be individualized during PXE course, corresponding to three very different patient profiles in terms of age, clinical manifestations, occurrence of complications and their treatment.
PXE is essentially a severe disease in adults in the second half of life. This contrasts with the presence of many patients seen for their follow-up at school age or in employment, and at the age of children. It is therefore necessary to optimize the recruitment of PXE patients and to rethink their follow-up by the CRMR.
The investigators hypothesize that the implementation of alternating treatment paths, better adapted to each of the three patient profiles, including multidisciplinary teleconsultations, will not only increase the number of patients monitored by the CRMR and benefit from referral care, but also to optimize care, for greater patient satisfaction, their local doctors and the CRMR team.
Read the detailed description
This is a quasi-experimental study evaluating the impact of new support modalities according to a before/after design with an intermediate transition period of 2 years necessary for the proper deployment of these new modalities. The study includes 3 separate periods of 2 years from its implementation:
- Period A1-2: continuation of the recruitment, monitoring and care methods for PXE patients as they are currently carried out. This period will allow the collection of baseline evaluation criteria
- Period A3-4 (intermediate period without evaluation/monitoring of indicators): gradual implementation of the internal organizational changes necessary for the deployment of alternating pathways.
- Period A5-6 (second period of interest for the evaluation of indicators): evaluation of fully operational alternating pathways for the recruitment, monitoring and care of PXE patients. This period will allow the collection of evaluation criteria and comparison with those of baseline).
For the main objective and the first secondary objectives relating to the optimization of the care pathway, the analysis will be carried out using global activity data at the CRMR level (non-identifying aggregated data).
This research involving humans is qualified as non-interventional research because to respond to :
- the second secondary objective about 'Evaluation of the impact of alternating courses adapted to age and clinical symptoms on the following criteria', patients will answer questionnaires specific to the study (quality of life, satisfaction and confidence for the patient and the treating physicians involved)
- the third secondary objective, semi-directed interviews will be carried out for patients, relatives (except parents) and treating physicians who agree to participate in the qualitative sub-study.
The overall activity data of the CRMR will be collected retrospectively and prospectively on the basis of all source data in order to characterize the evolution of the active file in terms of patients "duly followed up", "contacts without follow-up" or "lost to follow-up" during periods A1-A2 and A5-A6.
- Conditions
- Pseudoxanthoma Elasticum
- Being tested
- 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.
Pseudoxanthoma ElasticumOther
Answer to the PSQ-18, patient care confidence score (likert scale) and SF-12 questionaries at each visit, for an estimated duration of 15 minutes.
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of the impact of alternating pathways adapted to age and clinical symptoms on the number of patients duly followed up
Difference between the number of PXE patients duly followed up over the 2-year period (A5-6), after a period of implementation (2 years) of alternating pathways adapted to age, and the number of PXE patients duly followed up over the 2-year period following the implementation of the study (A1-2).
Measured: Patients duly followed correspond to: - New patients - Patient already followed at the CRMR corresponding to patients who have received at least one follow-up in the last 5 years whose this follow-up was carried out correctly in accordance with the plan
Secondary outcomes (8)
Optimization of the care pathway by evaluating the impact of alternating pathways adapted to age and clinical symptoms
The number of patients contacted without follow-up: Difference between the number of patients contacted without follow-up: during the period A5-6 and the period A1-2 The number of patients lost to follow-up: Difference between the number of patients lost to follow-up during the period A5-6 and the period A1-2 The time taken to take charge of new patients: Difference between the average time taken to the first effective care (face-to-face consultation, hospitalization or teleconsultation) and the first contact made during the period A1-2 and the period A5-6
Measured: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The percentage of patients followed up with a new serious complication between period A5-6 and period A1-2
Measured: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The number of patients followed up who completed all the necessary and prescribed examinations between period A5-6 and period A1-2
Measured: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The satisfaction score relating to patient care between period A5-6 and period A1-2 using the short version of the PSQ (PSQ-18), a questionnaire regularly used to assess the relevance of telemedicine
The PSQ-18 consisted of 18 statements including seven dimensions of satisfaction of medical care measured by : General Satisfaction; Technical Quality; Interpersonal Manner; Communication; Financial Aspects; Time Spent with Doctor; Accessibility and Convenience. Response were given on a five point scale ranging from strongly agree to strongly disagree. High scores reflect satisfaction with medical care
Measured: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The confidence score relating to patient care between period A5-6 and period A1-2 (Likert scale from 0-Not at all confident to 5-Completely confident) assessed in patients and their treating physicians
Measured: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The quality of life score of patients between period A5-6 and period A1-2 using the SF-12 SF-12 : consists of 12 questions covering physical and mental health domains. Scores above 50 indicate a better-than-average health-related quality of life, while scores below 50 suggest below-average health
Measured: At enrollment and during routine case follow up (time frame is patient dependent)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
The satisfaction score of the treating physician relating to patient care between period A5-6 and period A1-2 using the questionnaire SAPHORA.
Calculation of a score per item: assignment of a scale to each modality of response whose value increases with the level of satisfaction (0-25-50-75-100)
Measured: At enrollment and during routine case follow up (time frame is patient dependent)
Evaluation of the implementation of new alternating care pathways
Semi-directed interviews will be carried out with the various stakeholders involved in this reorganization of care
Measured: 1 hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Oct 2024
- Study start9 Feb 2026
- Primary completionJan 2031 (estimated)
- Study completionJan 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Case only
- Time perspective
- Other
- Enrolment
- 650 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Angers
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Ludovic Martin, Professor, Principal investigator, University Hospital, Angers
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06636344
- Sponsor's protocol ID
- 49RC23_0305
- Acronym
- REMOTE-PXE
- Status last verified
- Mar 2026
- First submitted
- 2 Oct 2024
- Last updated
- 6 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE) by the PXE Reference Center at the CHU in Angers, France, Thanks to the Implementation of Alternating Pathways, Adapted to Age and Symptomatology, and Including Teleconsultations
- ClinicalTrials.gov ID
- NCT06636344
- Acronym / sponsor ID
- REMOTE-PXE / 49RC23_0305
- Conditions
- Pseudoxanthoma Elasticum
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 650 participants (estimated)
- Lead sponsor
- University Hospital, AngersOther government
- Study start
- 9 Feb 2026 (actual)
- Primary completion
- Jan 2031 (estimated)
- Study completion
- Jan 2031 (estimated)
- First posted
- 10 Oct 2024 (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.
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by ectopic calcifications in the skin, retina and arterial walls. Angers University Hospital is the national rare disease reference center (CRMR) for PXE. Although PXE is hereditary, its main clinical manifestations (unsightly skin lesions, intermittent arterial claudication, stroke, retinal bleeding and blindness) are delayed and slowly progress over the course of a lifetime. They are rarely life-threatening but have a major functional impact. To date, management of PXE is purely preventive and symptomatic. Three successive "states" can be individualized during PXE course, corresponding to three very different patient profiles in terms of age, clinical manifestations, occurrence of complications and their treatment.
PXE is essentially a severe disease in adults in the second half of life. This contrasts with the presence of many patients seen for their follow-up at school age or in employment, and at the age of children. It is therefore necessary to optimize the recruitment of PXE patients and to rethink their follow-up by the CRMR.
The investigators hypothesize that the implementation of alternating treatment paths, better adapted to each of the three patient profiles, including multidisciplinary teleconsultations, will not only increase the number of patients monitored by the CRMR and benefit from referral care, but also to optimize care, for greater patient satisfaction, their local doctors and the CRMR team.
Detailed description
This is a quasi-experimental study evaluating the impact of new support modalities according to a before/after design with an intermediate transition period of 2 years necessary for the proper deployment of these new modalities. The study includes 3 separate periods of 2 years from its implementation:
- Period A1-2: continuation of the recruitment, monitoring and care methods for PXE patients as they are currently carried out. This period will allow the collection of baseline evaluation criteria
- Period A3-4 (intermediate period without evaluation/monitoring of indicators): gradual implementation of the internal organizational changes necessary for the deployment of alternating pathways.
- Period A5-6 (second period of interest for the evaluation of indicators): evaluation of fully operational alternating pathways for the recruitment, monitoring and care of PXE patients. This period will allow the collection of evaluation criteria and comparison with those of baseline).
For the main objective and the first secondary objectives relating to the optimization of the care pathway, the analysis will be carried out using global activity data at the CRMR level (non-identifying aggregated data).
This research involving humans is qualified as non-interventional research because to respond to :
- the second secondary objective about 'Evaluation of the impact of alternating courses adapted to age and clinical symptoms on the following criteria', patients will answer questionnaires specific to the study (quality of life, satisfaction and confidence for the patient and the treating physicians involved)
- the third secondary objective, semi-directed interviews will be carried out for patients, relatives (except parents) and treating physicians who agree to participate in the qualitative sub-study.
The overall activity data of the CRMR will be collected retrospectively and prospectively on the basis of all source data in order to characterize the evolution of the active file in terms of patients "duly followed up", "contacts without follow-up" or "lost to follow-up" during periods A1-A2 and A5-A6.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients belonging to the CRMR active cohort will be defined by: * for new patients: patients for whom CRMR care has been provided, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR team) was provided within a maximum of 3 months after an initial contact made during the period of interest * for patients already in the CRMR active file (patients who have benefited from at least one care in the last 5 years): patients for whom the CRMR care provided for the period, i.e. a stay at the CRMR (consultation or hospitalization) or a teleconsultation with the CRMR multidisciplinary team, was provided in accordance with the planned frequency with a tolerance window of 6 months.
Key inclusion criteria (5 listed)
- For the main objective and the first secondary objectives : The population taken into account corresponds to all the support and requests managed by the CRMR over the periods of interest (period A1-2 and period A5-6).
- Inclusion in REMOTE-PXE is offered to any patient with a PXE, defined phenotypically or genotypically (see below), treated at the CRMR during the periods of interest. Note that inclusions are independent between the 2 periods (a patient included during period A1-2 can be included again if he/she is treated during period A5-6). PXE is defined phenotypically:
- by the presence of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) in patients under 25 years of age
- OR by the combination of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) and specific ophthalmologic lesions, complicated or not (depending on age: orange peel, angioid streaks, retinal dystrophy) over 25 years of age PXE is defined genotypically, regardless of the patient\'s age, by the identification of two variants in the ABCC6 gene.
- Participation in the qualitative study (semi-directed interviews) will be offered to a sample of patients included in the RIPH during the A5-A6 period among patients who were already followed before the A3-A4 period since the objective is to collect their experiences and perceptions of this reorganization of care. Only patients agreeing to participate in this sub-study and giving their consent for the recording of the interviews will be included.
Key exclusion criteria (2 listed)
- Person objecting to participating in the research
- Patient under curatorship, guardianship and legal protection
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 |
|---|---|---|
| Pseudoxanthoma ElasticumAnswer to the PSQ-18, patient care confidence score (likert scale) and SF-12 questionaries at each visit, for an estimated duration of 15 minutes. | Other | – |
Primary outcome
Evaluation of the impact of alternating pathways adapted to age and clinical symptoms on the number of patients duly followed up
Time frame: Patients duly followed correspond to: - New patients - Patient already followed at the CRMR corresponding to patients who have received at least one follow-up in the last 5 years whose this follow-up was carried out correctly in accordance with the plan
Difference between the number of PXE patients duly followed up over the 2-year period (A5-6), after a period of implementation (2 years) of alternating pathways adapted to age, and the number of PXE patients duly followed up over the 2-year period following the implementation of the study (A1-2).
8 secondary outcomes
Optimization of the care pathway by evaluating the impact of alternating pathways adapted to age and clinical symptoms
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
Time frame: Comparison between the periode A5-6 (years 5 and 6) and A1-2 (years 1 and 2)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
Time frame: At enrollment and during routine case follow up (time frame is patient dependent)
Improving the quality of care by evaluating the impact of alternating pathways adapted to age and clinical symptoms on the following criteria
Time frame: At enrollment and during routine case follow up (time frame is patient dependent)
Evaluation of the implementation of new alternating care pathways
Time frame: 1 hour
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 6 Apr 2026.
- Individual participant dataSharing planned: No
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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.
Ludovic Martin, Professor principal investigator
University Hospital, 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 5 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: looking for participants now, as of the sponsor's last update on 6 Apr 2026. 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?
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 Ludovic Martin, Professor (0241353419, LuMartin@chu-angers.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of the impact of alternating pathways adapted to age and clinical symptoms on the number of patients duly followed up (time frame: Patients duly followed correspond to: - New patients - Patient already followed at the CRMR corresponding to patients who have received at least one follow-up in the last 5 years whose this follow-up was carried out correctly in accordance with the plan). 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 6 Apr 2026.