[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"pseudoxanthoma-elasticum\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:pseudoxanthoma-elasticum":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,8,0,[8,45,70,110,139,167,192,214],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100617781","purinergic-compounds-in-pseudoxanthoma-elasticum-100617781",false,"NCT07323082","Purinergic Compounds in Pseudoxanthoma Elasticum","Role of Purinergic Compounds in the Vascular Pathology of Pseudoxanthoma Elasticum","PURI-PXE","Inclusion Criteria:\n\n* Male or female,\n* Age \\>18 years\n* Covered by social security,\n* Informed and having signed the informed consent form.\n\nPXE patients:\n\n\\- with PXE defined according to current clinical criteria for PXE (REACT-PXE and PNDS consensus) and with an ABCC6 mutation.\n\nExclusion Criteria:\n\n* Patients treated with bisphosphonates, vitamin K antagonists, and dietary supplements containing calcium, phosphates, magnesium, zinc, or iron.\n* Treatments likely to alter adenosine levels (caffeine, salbutamol, beta-blockers, etc.).\n* Progressive bone diseases (osteoporosis, chondrocalcinosis, gout, etc.).\n* Progressive and\u002For treated cancerous diseases.\n* Progressive and\u002For treated inflammatory or autoimmune diseases.","ALL","18 Years",{"count":20,"type":21},45,"ESTIMATED","INTERVENTIONAL",[24],"NA","Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, transmitted as an autosomal recessive trait, affecting approximately 1 in 50,000 people, predominantly women. It is characterised by progressive calcification of tissues rich in elastic fibres, particularly the skin, retina and arteries. It often begins in young adults and can eventually lead to central blindness, peripheral artery disease, strokes, tendon pain, recurrent kidney stones and visible skin changes.\n\nThe diagnosis is based on clinical examination (skin papules, angioid streaks) and can be confirmed by biopsy or genotyping of the ABCC6 gene, whose mutation leads to extracellular ATP deficiency. This deficiency reduces the production of pyrophosphate (PPi), a natural inhibitor of calcification, thus promoting abnormal calcium deposits in tissues. To date, there is no curative treatment, but clinical trials are evaluating oral administration of PPi, with encouraging results.\n\nThe role of purinergic metabolism is increasingly being explored in PXE. The cascade of conversion of ATP to adenosine (ADO) via ectonucleotidase pyrophosphatase 1 (ENPP1) and 5' ectonucleotidase (NT5E) indirectly regulates the activity of tissue-nonspecific alkaline phosphatase (TNAP), an enzyme that degrades PPi. An imbalance in this cascade could aggravate calcifications. The joint measurement of PPi, ADO and these enzymes, which has recently become possible, could not only refine our understanding of the disease, but also pave the way for new therapeutic strategies.",[27],"Pseudoxanthoma Elasticum",[29,30,31],"ppi","ADO","vascular pathology","RECRUITING","2026-04-23",{"date":35,"type":36},"2026-04-24","ACTUAL",{"date":38,"type":36},"2026-01-20",{"date":40,"type":21},"2029-01-15",{"name":42,"class":43},"Centre Hospitalier Universitaire de Nice","OTHER",2,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":53,"maxAge":4,"enrollmentInfo":54,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":57,"conditions":58,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":69},"100564989","impact-of-optimized-recruitment-and-follow-up-of-patients-with-pseudoxanthoma-elasticum-pxe-100564989","NCT06636344","Impact of Optimized Recruitment and Follow-up of Patients With Pseudoxanthoma Elasticum (PXE)","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","REMOTE-PXE","Inclusion Criteria:\n\n* 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).\n* 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\u002Fshe is treated during period A5-6). PXE is defined phenotypically:\n* by the presence of specific skin lesions (clinically suggestive and showing dermal elastorrhexis on skin biopsy) in patients under 25 years of age\n* 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.\n* 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.\n\nExclusion Criteria:\n\n* Person objecting to participating in the research\n* Patient under curatorship, guardianship and legal protection","6 Years",{"count":55,"type":21},650,"OBSERVATIONAL","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.\n\nPXE 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.\n\nThe 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.",[27],"2026-03-31",{"date":61,"type":36},"2026-04-06",{"date":63,"type":36},"2026-02-09",{"date":65,"type":21},"2031-01",{"name":67,"class":68},"University Hospital, Angers","OTHER_GOV",1,{"id":71,"slug":72,"hasResults":11,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":76,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":78,"enrollmentInfo":79,"targetDuration":4,"studyType":22,"phases":81,"briefSummary":83,"conditions":84,"keywords":89,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":109},"100495668","phase-1-the-energy-study-evaluation-of-safety-and-tolerability-of-inz-701-in-infants-with-enpp1-deficiency-or-abcc6-deficiency-100495668","NCT05734196","The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency","The ENERGY Study: An Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 in Infants With Ectonucleotide Pyrophosphatase\u002F Phosphodiesterase 1 (ENPP1) Deficiency or ATP-binding Cassette Sub-family C Member 6 (ABCC6) Deficiency","ENERGY","Inclusion Criteria:\n\n1. Infant aged ≤ 1 year at the time of enrollment\n2. Study participant must have a confirmed post-natal molecular genetic diagnosis of ENPP1 Deficiency or ABCC6 Deficiency\n3. Study participants must have clinical manifestations of generalized arterial calcification of infancy (GACI) or GACI-2, which must include at least one of the following: ectopic calcification, heart failure, respiratory distress, edema, cyanosis, hypertension, and cardiomegaly.\n4. Study participant must weigh ≥0.5 kg at the time of the first dose of INZ-701 in this study\n5. Written informed consent provided by a parent or legal guardian\n\nExclusion Criteria:\n\n1. In the opinion of the Investigator, presence of any clinically significant disease or laboratory abnormality that precludes study participation or may confound interpretation of study result\n2. Receiving end of life or hospice care\n3. Known malignancy\n4. Concurrent participation in another non-Inozyme interventional study\n5. Treatment with any non-Inozyme product or investigational device during study participation","1 Year",{"count":80,"type":21},16,[82],"PHASE1","The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.",[85,86,87,88,27],"Ectonucleotide Pyrophosphatase\u002Fphosphodiesterase1 Deficiency","Autosomal Recessive Hypophosphatemic Rickets","Generalized Arterial Calcification of Infancy","ATP-Binding Cassette Subfamily C Member 6 Deficiency",[90,91,92,87,93,94,95,88,96,97,98],"ectonucleotide pyrophosphatase\u002Fphosphodiesterase1 deficiency","hypopyrophosphatemia","ENPP1","GACI","Autosomal Recessive Hypophosphatemic Rickets Type 2","ARHR2","ABCC6","Pseudoxanthoma elasticum","PXE","2026-03-19",{"date":101,"type":36},"2026-03-24",{"date":103,"type":36},"2023-06-25",{"date":105,"type":21},"2027-11-11",{"name":107,"class":108},"Inozyme Pharma","INDUSTRY",7,{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":114,"acronym":115,"eligibilityCriteria":116,"healthyVolunteers":117,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":118,"targetDuration":4,"studyType":22,"phases":120,"briefSummary":121,"conditions":122,"keywords":125,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":131,"lastUpdatePostDateStruct":132,"startDateStruct":134,"completionDateStruct":136,"leadSponsor":138,"locationsCount":69},"100593454","chopxe---analysis-of-choriocapillaris-flow-deficits-in-patients-with-pseudoxanthoma-elasticum-100593454","NCT07006649","CHOPXE - Analysis of Choriocapillaris Flow Deficits in Patients With Pseudoxanthoma Elasticum","CHOPXE","Inclusion Criteria:\n\n* Participant not afflicted by the disease under investigation and without ophthalmological pathology\n* Person matched in age (+\u002F- 5 years) and gender to a case (patient with PXE in pre-atrophic stages included in the PXE cohort)\n* Signature of informed consent for participation in the protocol\n* Adult at time of inclusion Criteria for non-inclusion of research subjects\n* Known ophthalmological diseases (maculopathy, glaucoma, optic neuropathy, retinopathy whatever the aetiology)\n* Known severe myopia, defined by a sphere \\> - 6 dioptres\n* Diabetic subject\n* Unable to carry out the ophthalmological examinations of the study\n* Pregnant, breast-feeding or parturient woman\n* Person undergoing psychiatric care under constraint\n* Person subject to a legal protection measure\n* Person not affiliated or not benefiting from a social security scheme\n\nExclusion Criteria:\n\n* Ophthalmic pathology (maculopathy, glaucoma, optic neuropathy, retinopathy, whatever the etiology) discovered during the ophthalmic workup\n* AngioOCT examination inexploitable (artifact and\u002For image quality less than 50\u002F100 even after pupillary dilation)\n* Severe myopia (sphere \\> - 6 dioptres) discovered during the ophthalmic workup.\n\nCase inclusion critera :\n\n* Patient diagnosed with pseudoxanthoma elasticum, defined according to Plomp's criteria: two out of three features related to PXE: (1) two pathogenic mutations in the ABCC6 gene, and\u002For (2) disease-specific dermatological changes and\u002For (3) disease-specific ocular changes;\n* Included in the PXE cohort ;\n* With pre-atrophic damage, i.e. at least one eye without choroidal neovessels on OCT-A, without previous intravitreal injection of anti-VEGF, and without major retinal atrophy (less than 2 papillary diameters);\n* who have had an angiographic OCT (performed during follow-up consultations) with usable results (no artifacts and image quality of 50\u002F100 or better) ;\n* patient's non-objection to participation in a study\n\nCase criteria for non-inclusion :\n\n* Other known ophthalmological pathology (maculopathy, glaucoma, optic neuropathy, retinopathy of any etiology)\n* Severe myopia, defined by a sphere \\> - 6 dioptres\n* Diabetic subject",true,{"count":119,"type":21},60,[24],"This observational study sets out to compare choriocapillaris flow deficits between healthy control subjects and patients with pseudoxanthoma elasticum. Pseudoxanthoma elasticum (PXE) is a rare, incurable hereditary disease caused by genetic mutations. The condition is characterised by excessive tissue mineralisation, which can result in a range of dermatological, vascular, and ophthalmological complications. Among these complications is the potential for visual impairment. The management of this condition is focused on the treatment of its complications. Degeneration of the retina and the choroid (the layer responsible for ensuring its vascularisation) occurs in the eye, resulting in premature degeneration. We would like to study the premature alteration of these structures, which could subsequently be used as an objective marker of the evolution of pseudoxanthoma elasticum.",[27,123,124],"Tomography, Optical Coherence","Retinal Disease",[126,127,128,129,130],"comparative studies","observational study","adult","cross-sectional studies","healthy volunteers","2025-12-01",{"date":133,"type":36},"2025-12-08",{"date":135,"type":36},"2025-11-28",{"date":137,"type":21},"2026-11",{"name":67,"class":68},{"id":140,"slug":141,"hasResults":11,"nctId":142,"briefTitle":143,"officialTitle":144,"acronym":145,"eligibilityCriteria":146,"healthyVolunteers":117,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":147,"targetDuration":4,"studyType":56,"phases":4,"briefSummary":149,"conditions":150,"keywords":154,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":158,"lastUpdatePostDateStruct":159,"startDateStruct":161,"completionDateStruct":163,"leadSponsor":165,"locationsCount":69},"100596641","progression-assessment-of-pxe-associated-alterations-100596641","NCT07048106","Progression Assessment of PXE-associated Alterations","Natural History and Structural Consequences of a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum (PXE)","PAPA","Inclusion Criteria for PXE cohort:\n\n* PXE based on the criteria of Plomp et al.\n* Clear ocular media\n* Ability to perform the tasks of the study protocol (i.e., holding the head still for image aquisition)\n\nExclusion Criteria:\n\n* Any confounding ocular disease not associated with PXE\n* Systemic diseases hindering the study examinations",{"count":148,"type":21},100,"This monocentric clinical observational study at the University Eye Hospital Bonn investigates the natural history and structural consequences of a diseased Bruch's membrane (BrM) in Pseudoxanthoma elasticum (PXE). The study includes four main objectives:\n\n1. Direct Bruch's Membrane Alterations: Longitudinal analysis of BrM reflectivity using high-resolution OCT to assess correlations with disease progression\n2. Choriocapillaris Flow Deficits: Evaluation of choriocapillaris (CC) perfusion in relation to BrM calcification, aiming to clarify whether CC deficits precede or result from BrM changes\n3. Retinal Atrophy Progression: Monitoring the development and expansion of retinal atrophic areas over two years, including correlations with specific features like reticular pseudodrusen and hyperreflective spots\n4. Genotype-Phenotype Correlation: Analysis of different ABCC6 gene mutations to identify correlations with imaging features and disease severity, potentially guiding future personalized therapeutic strategies\n\nThe study will recruit 100 PXE patients and 100 controls, with data collection over 10 years. It involves non-invasive imaging and blood sampling. No direct benefit is expected for participants, but the findings may inform future clinical trials and improve patient counseling.",[27,151,152,153],"Angioid Streaks","Peau d'Orange","Grönblad-Stranberg Disease (Pseudoxanthoma Elasticum)",[96,97,98,155,156,157],"Angioid streaks","Peau d'orange","Grönblad-Strandberg Syndrome","2025-06-24",{"date":160,"type":36},"2025-07-02",{"date":162,"type":36},"2024-09-01",{"date":164,"type":21},"2027-10",{"name":166,"class":43},"University Hospital, Bonn",{"id":168,"slug":169,"hasResults":11,"nctId":170,"briefTitle":171,"officialTitle":172,"acronym":4,"eligibilityCriteria":173,"healthyVolunteers":11,"sex":17,"minAge":78,"maxAge":4,"enrollmentInfo":174,"targetDuration":4,"studyType":22,"phases":176,"briefSummary":178,"conditions":179,"keywords":182,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":183,"lastUpdatePostDateStruct":184,"startDateStruct":186,"completionDateStruct":188,"leadSponsor":190,"locationsCount":191},"100551627","phase-2-adapt-study-long-term-safety-study-of-inz-701-in-patients-with-enpp1-deficiency-and-abcc6-deficiency-100551627","NCT06462547","ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency","The ADAPT Study: An Open-label, Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency","Individuals eligible to participate must meet all of the following inclusion criteria:\n\n1. Provide written or electronic informed consent after the nature of the study has been explained, and prior to any research-related procedures, per International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) Good Clinical Practice (GCP)\n2. Provide assent in accordance with local regulations, if \\\u003C18 years of age\n3. Male or female, greater than 1 year of age\n4. Must have completed the protocol-required safety and PK\u002FPD and\u002For efficacy period(s) of a previous INZ-701 clinical study in ENPP1 or ABCC6 Deficiency, as confirmed by the Sponsor\n5. Female participants of childbearing potential who are sexually active must be using or agree to use 1 highly effective form of contraception (per CTFG 2020) from at least 1 month before the first dose of INZ-701 through 30 days after last dose of INZ-701 (greater than 5 half-lives of INZ-701); participants must agree to not donate ova from the period following the first dose of INZ-701 through 30 days after the last dose of INZ-701\n6. Male participants who are sexually active must agree to use condoms from the period following the first dose of INZ-701 through 30 days after the last dose of INZ-701; participants must agree to not donate sperm from the period following the first dose of INZ-701 through 30 days after last dose of INZ-701\n7. In the opinion of the Investigator, able to complete all aspects of the study\n\nIndividuals who meet any of the following exclusion criteria will not be eligible to participate:\n\n1. In the opinion of the Investigator, presence of any clinically significant disease or laboratory abnormality not associated with ENPP1 Deficiency or ABCC6 Deficiency, that will preclude study participation and\u002For may confound interpretation of study results\n2. Known intolerance to INZ-701 or any of its excipients\n3. Concurrent participation in another interventional clinical study and\u002For has received an investigational drug other than INZ-701 within 5 half-lives or within 4 weeks prior to the first dose of INZ-701 in this study, whichever is longer, or use of an investigational device\n4. Pregnant, trying to become pregnant, or breastfeeding\n5. Male participants trying to father a child",{"count":175,"type":21},200,[177],"PHASE2","The purpose of this study (Study INZ701-304 \\[ADAPT\\]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to continue dosing for the potential treatment of their condition.",[180,27,181,85,94],"Gene Mutations","Arterial Calcification",[96,88,98,97,93,87,95,94,92,90,91],"2024-11-26",{"date":185,"type":36},"2024-11-29",{"date":187,"type":36},"2024-06-19",{"date":189,"type":21},"2030-12",{"name":107,"class":108},5,{"id":193,"slug":194,"hasResults":11,"nctId":195,"briefTitle":196,"officialTitle":197,"acronym":198,"eligibilityCriteria":199,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":200,"enrollmentInfo":201,"targetDuration":4,"studyType":22,"phases":203,"briefSummary":204,"conditions":205,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":206,"lastUpdatePostDateStruct":207,"startDateStruct":209,"completionDateStruct":211,"leadSponsor":213,"locationsCount":44},"100429169","ppi-supplementation-to-fight-ectopic-calcification-in-pxe-100429169","NCT04868578","PPI Supplementation to Fight ECtopIc Calcification in PXE","Efficacy of PyROphosPHate Supplementation to Fight ECtopIc Calcification in PseudoXanthoma Elasticum - PROPHECI-PPI Study","PROPHECI-PPI","Inclusion Criteria:\n\n* Patients (\\>18 years and \\\u003C65 years), men and women, presenting a clinically and biologically authenticated PXE (genotype + phenotype) according to the international diagnostic criteria (26).\n* Efficient contraceptive method in woman of childbearing age at inclusion and during the overall study\n* Patient affiliated to a social security insurance\n* Signed informed consent\n* Patient without acute complication linked or not to the pathology at the time of the study\n\nNON-INCLUSION CRITERIA\n\n* Renal insufficiency (i.e. defined by a renal clearance \\\u003C30ml \u002F min \u002F 1.73 m²)\n* Patients with osteomalacia\n* Patients with chronic diarrhea (\\> 1 month)\n* Pregnancy, lactating or fertile women who may wish to become pregnant within three years.\n* Any other medical condition that may be considered in the opinion of the Principal Investigator.\n* Use of bisphosphonate during last 5 years.\n* Hypocalcemia (calcium \\\u003C2.20 mmol\u002FL and ionized calcium \\\u003C1.15 mmol\u002FL) \\*.\n* Vitamin D deficiency \\\u003C35 nmol\u002FL \\*\n* Enrollment in another inteventional clinical trial which could interfere with the present study\n* patients (\\>18 years) protected by law\n\n  * After correcting the hypocalcemia and\u002For vitamin D deficiency, a participant is again suitable for participation in the trial, as long as the participant meets the inclusion criteria.","65 Years",{"count":202,"type":21},99,[24],"Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder (OMIM 264800, frequency 1\u002F25000) characterized by progressive ectopic calcification of connective tissues. PXE mainly affects the skin (inesthetic papules and plaques in the skin folds), the retina (central blindness), the vasculature (peripheral arterial occlusive disease and stroke) and the renal system (renal lithiasis) in adulthood. Although rarely, early lethal forms have been reported. This chronic and highly disabling condition results from a loss of function of the gene encoding for the ABCC6 membrane transporter primarily expressed in the hepatocytes and renal tubular cells. Recently, it has been reported that PXE was characterized by a 50-60% decrease in the plasma level of inorganic pyrophosphate (PPi), a major physiological anti-calcifying factor. PXE is an incurable disease which therapeutic options are limited to symptomatic treatments to stem the devastating effect of the ectopic calcifications. Recently, encouraging proof of concept studies with animals PXE models and healthy volunteers have shown that, contrary to what was initially reported and thought, the oral administration of PPi salts are able to increase PPi plasma levels, opening up new therapeutic perspectives in PXE. Therefore, we propose to perform the first Phase II randomized controlled trial (RCT) to evaluate the safety and efficacy of a daily and oral administration of PPi salts against placebo in PXE patients.",[27],"2024-05-16",{"date":208,"type":36},"2024-05-17",{"date":210,"type":36},"2022-12-13",{"date":212,"type":21},"2027-09-01",{"name":42,"class":43},{"id":215,"slug":216,"hasResults":11,"nctId":217,"briefTitle":218,"officialTitle":218,"acronym":219,"eligibilityCriteria":220,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":221,"enrollmentInfo":222,"targetDuration":4,"studyType":22,"phases":224,"briefSummary":226,"conditions":227,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":228,"lastUpdatePostDateStruct":229,"startDateStruct":231,"completionDateStruct":233,"leadSponsor":235,"locationsCount":69},"100503232","phase-3-the-prevention-of-systemic-ectopic-mineralization-in-pseudoxanthoma-elasticum-100503232","NCT05832580","The Prevention of Systemic Ectopic Mineralization in Pseudoxanthoma Elasticum","TEMP-PREVENT","Inclusion Criteria:\n\nIn order to be eligible to participate in this study, a subject must meet all of the following criteria:\n\n* 1\\. Be between 18 years and 50 years.\n* 2\\. Have a definitive diagnosis of PXE according to the Plomp criteria, which confirm a diagnosis of PXE when at least two (or more) criteria not belonging to the same category (skin, eye, genetic) are met:\n\n  1. Skin\n\n     1. Yellowish papules and\u002For plaques on the lateral side of the neck and\u002For flexural areas of the body or\n     2. Increase of morphologically altered elastin with fragmentation, clumping and calcification of elastic fibers in a skin biopsy taken.\n  2. Eye\n\n     1. Peau d'orange of the retina or\n     2. One or more angioid streaks (AS), each at least as long as one disk diameter. When in doubt, fluorescein or indocyanine green angiography of the fundus is needed for confirmation.\n  3. Genetics\n\n     1. A pathogenic mutation of both alleles of the ABCC6 gene or\n     2. A first-degree relative (parent, sibling or child) who meets independently the diagnostic criteria for definitive PXE\n* 3\\. Fertile women must take adequate anticonception.\n\nExclusion Criteria:\n\nA potential subject who meets any of the following criteria will be excluded from participation in this study:\n\n1. Patients that are unable or unwilling to sign for informed consent.\n2. Pregnant, lactating, or fertile women who might wish to become pregnant within three years.\\*\\*\n3. Patients with an estimated glomerular filtration rate below 30 ml\u002Fmin\u002F1.73m2 according to the CKD-EPI equation.31\n4. Patients with a known abnormality of the oesophagus that would interfere with passage of the drug (e.g. oesophagus stenosis).\n5. Patients with chronic diarrhoea (\\> 1 month).\n6. Patients with known osteomalacia;\n7. Patients with hypocalcaemia (calcium \\\u003C2.20 mmol\u002FL corrected for albumin)\\*.\n8. Patients with a vitamin D deficiency (\\\u003C35 nmol\u002FL)\\*.\n9. Patients that used a bisphosphonate in the last 5 years.\n10. Patients with known sensitivity to etidronate.\n11. Any other medical or social condition that, at the discretion of the Principal Investigator, might put the subject at risk of harm during the study or might adversely affect the interpretation of the study data.\n\n    * After correction a patient is again suitable for participation, as long as inclusion criteria are met (more information in paragraph 7.3.3).\n\n      * Subjects that become pregnant during the trial will be excluded from further participation.","50 Years",{"count":223,"type":21},76,[225],"PHASE3","The goal of this randomized clinical trial is to assess the effect of etidronate on ectopic calcification in relatively young patients with Pseudoxanthoma elasticum. The main question it aims to answer are:\n\nWhat is the difference in the arterial calcification scores in the legs and the carotid syphon measured on low-dose CT scan after 24 months of treatment compared to baseline between etidronate and placebo.\n\nParticipants will be asked to do take etidronate or placebo for 24 months.",[27],"2023-04-14",{"date":230,"type":36},"2023-04-27",{"date":232,"type":21},"2023-04-26",{"date":234,"type":21},"2027-04-29",{"name":236,"class":43},"UMC Utrecht"]