New care pathways could improve life for rare disease patients
NCT ID NCT06636344
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at whether offering personalized follow-up, including video visits, helps more people with pseudoxanthoma elasticum (PXE) get proper care. PXE causes calcium buildup in skin, eyes, and blood vessels, leading to vision loss and other problems. The researchers will track 650 patients over several years to see if the new approach increases the number of people who stay in regular care.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Alternating care pathways (in-person and teleconsultations) plus questionnaires
- What this could lead to
- If successful, this could show that personalized follow-up with telemedicine improves patient satisfaction and care coordination for people with PXE.
- What could go wrong
- This is an observational study without a control group, so it cannot prove cause and effect. Results may not apply to other centers or countries.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 650 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Feb 2026
- Expected to finish
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Jan 2031
An estimate. End dates often move.
- Lead sponsor
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A government agency
The lead sponsor is a government body.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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6 years and older
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * 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. Exclusion Criteria: * Person objecting to participating in the research * Patient under curatorship, guardianship and legal protection
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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CHU Angers
RECRUITINGAngers, 49033, France
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