Active clinical trials for "Pseudoxanthoma Elasticum"

The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency (including Generalized Arterial Calcification of Infancy Type 1 [GACI] and Autosomal Recessive Hypophosphatemic Rickets Type 2 [ARHR2]) and the early-onset form of ABCC6 Deficiency (Generalized Arterial Calcification of Infancy Type 2 [GACI-2]) longitudinally.

The investigators hypothesize is that in PXE patients, low grade chronic inflammation could preceed the molecular and the clinical calcification process.

Protocol code and version: FIM-PXE-2016-01 Version 1.4 Trial title: "Response to oral lansoprazole of inorganic pyrophosphate levels in patients with Grönblad- Stranberg disease (Pseudoxanthoma Elasticum)" Trial design: Double-blind, placebo-controlled, randomised, two-stage crossover clinical trial, with each patient serving as their own control and reducing the number of patients to confirm our hypothesis. Principal Investigator: Dr. Pedro Valdivielso Felices Participating centres Virgen de la Victoria's Universitary Hospital in Malaga and Virgen de la Macarena's Universitary Hospital in Seville. Duration of the trial: 12 months Expected start date: December 2019 Objectives: Principal:To verify the changes in plasma PPi, and the main molecules that regulate it (NPP1-3, TNAP) after oral administration of lansoprazole in patients diagnosed with PXE. Description of treatment: Selection:20 patients who meet all the criteria for inclusion and none for exclusion. Randomisation and 1st stage: Patients will receive lansoprazole 30mg/day or their placebo for 8 weeks. Wash-out: After 8 weeks, all treatment will be suspended for 15 days. 2nd stage (crossed): Treatment is crossed, each patient serves as his or her own control. Evaluation variables: Date of Birth Sex. Physical examination (anthropometry and vital signs) Date of first symptom. Date of final diagnosis Ocular affectation (orange peel skin, complete striae angioides, lucentis, corrected visual acuity, cataracts, intraocular pressure, fundus (vascular flow, optic nerve drusen, retinal atrophy, neovascular membranes, macular thickness, colloid thickness). Skin affectation (yellowish papules or plaques on the side of the neck or other areas of flexure and lax skin). Vascular affectation (intermittent claudication clinic, angina and/or episode of acute myocardial infarction and/or non-embolic ischemic stroke, surgical or percutaneous revascularisation, cardiac murmur,10.) History of renal lithiasis, arterial hypertension, diabetes mellitus, treatments, smoking and dyslipidemia. Specific biochemical variables: Inorganic pyrophosphate (IPP) NPP1 and NPP2.3: activity and mass concentration of the enzyme Non-specific tissue alkaline phosphatase (NTAP) and PHA. Osteocalcin: To check possible side effects on bone metabolism. 5'-Nucleotidas General analytical parameters (haemoglobin, haematocrit, MVC, MHC, platelets, neutrophils, prothrombin activity, TPTA, thrombin time, ferritin, PCR, glycaemia, urea, creatinine, cholesterol, triglycerides, HDL cholesterol, LDL cholesterol, uric acid, calcium, phosphorus, alkaline phosphatase, PTH). By means of routine clinical laboratory techniques. Number of patients: TOTAL : 20 patients(Competitive recruitment)

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.

This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological siblings who are PXE carriers or normal non-PXE individuals.

This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in the connective tissue, causing changes in the skin, eyes, cardiovascular system and gastrointestinal system. Some effects of PXE can cause serious medical problems, while others have less impact. Symptoms often appear earlier and are more severe in females than in males, but there is no way to predict how the disorder will progress in any given individual. Candidates for this study are recruited through PXE International, an organization that provides patient support and supports research on the disease. The organization collects biological samples and medical information on patients and family members to help further research on the disease. Families that have samples from the patient, both parents, and at least one sibling may be eligible for this study. Grandparents and extended family members may be included in certain instances. Participants provide a blood sample, a sample of cells scraped from the inside of the cheek (buccal cells) and a medical history. The samples are analyzed for gene variants and the findings are correlated with disease signs and symptoms. ...

This study aims to demonstrate a potential association between gut microbiota composition, plasma levels of various forms of vitamin K, and severity of clinical manifestations of Pseudoxanthoma Elasticum (PXE).

Pseudoxanthoma elasticum (PXE) is a rare, autosomal recessive genetic disease characterized by progressive calcification and fragmentation of elastic fibers in connective tissues. PXE primarily affect the skin, retina and arterial walls. Given the age of onset and progression of the disease, the consequences of PXE affect a large number of patients of working age and are therefore likely to have an impact on their professional career and job retention. To our knowledge, there are no studies on the occupational impact of PXE.

To investigate the variation in backscattering with depth between forme fruste keratoconus (FFKC), keratoconus, and normal eyes; to determine the backscattering changes in the characteristics of keratoconus progression; and to explore the diagnostic value of backscattering in FFKC.

To determine the specific structural and functional features of the peripheral arteriopathy in the Pseudoxanthoma Elasticum (PXE), an inherited autosomal disease.