Pseudoxanthoma Elasticum

Gingival recessions are a common issue affecting many adults worldwide and can lead to problems such as tooth sensitivity, root caries, and aesthetic concerns. This trial aims to compare a new volume stable collagen matrix to the standard connective tissue graft from the palate in treating gingival recessions, particularly in orthodontically treated patients. The study seeks to improve understanding of the best treatment methods for both upper and lower jaw recessions to enhance periodontal health and patient outcomes. Participants will be randomly assigned to one of two treatment groups. The test group will receive tissue thickening using the collagen matrix combined with a modified coronally advanced tunnel technique. The control group will undergo the standard treatment involving a connective tissue graft harvested from the palate with the same surgical technique. Both procedures aim to cover the gingival recession defect effectively. During the study, researchers will assess root coverage, early wound healing, tissue thickness increase, clinical attachment level, aesthetic scores, and patient satisfaction over a one-year period. Follow-up evaluations will include wound healing checks within the first week after surgery and assessments of periodontal tissue changes and patient-reported outcomes at one year. Participation includes regular visits and clinical measurements to monitor treatment effects and safety.

Researchers are evaluating the long-term safety of INZ-701, an investigational protein treatment for patients with ENPP1 Deficiency or ABCC6 Deficiency. These rare genetic conditions are linked to gene mutations causing arterial calcification and other complications. The study focuses on patients who have previously received INZ-701 in earlier trials and are continuing treatment to assess ongoing safety. INZ-701 is given as a once-weekly subcutaneous injection. Children aged 1 to under 13 years receive a dose based on their weight (2.4 mg/kg), while participants 13 years and older receive either a 1.8 mg/kg dose or a flat 150 mg dose. The study includes a 30-day screening period followed by an open-label treatment phase. Participants will continue treatment until the drug becomes commercially available or the sponsor stops development, with a safety follow-up visit about 30 days after their last treatment. Participants will be monitored closely throughout the study with safety assessments including tracking treatment-emergent adverse events and the presence of anti-drug antibodies over six years. Additional measures include blood tests for drug concentration and plasma markers related to the condition. The study ensures long-term observation of participants receiving INZ-701 to gather important safety data while supporting their ongoing care.

This research aims to study arterial stiffness in patients with thoracic ascending aortic aneurysms (TAA), including both syndromic and non-syndromic types. The study focuses on stratifying aortic risk based on arterial stiffness and comparing these measurements with the shape and blood flow characteristics of the ascending thoracic aorta. The condition is linked to genetic changes affecting the aortic wall, which can lead to aneurysms, especially in the ascending aorta. Participants will undergo a non-invasive evaluation of arterial stiffness using a device called Pulsotonometry, which measures Pulse Wave Velocity (PWV). This method is non-radioactive and helps monitor the stiffness of the aorta. The study has two groups: one with clinical or genetic diagnosis of syndromic TAA and another without such diagnosis. The Pulsotonometry assessment will be done to analyze arterial stiffness and its connection to aneurysm markers. During the study, participants will have their blood pressure and arterial stiffness measured without invasive procedures. The main outcome measure is Pulse Wave Velocity assessed over an 18-month period. Researchers will collect and compare these data to better understand arterial stiffness in this patient group. The study is observational, and participants will be monitored to provide insights into the relationship between arterial stiffness and aortic aneurysms.

Researchers are evaluating Autologous Adipose Cell Therapy to improve skin rejuvenation and hair restoration. This therapy aims to overcome the limitations of traditional fat grafting and dermal fillers by isolating early-stage fat cells for better distribution and longer-lasting effects. The study focuses on assessing the safety, feasibility, and effectiveness of this therapy for conditions like wrinkles, fine lines, skin elasticity loss, pigmentation, hair thinning, and hair loss. Participants will receive the Autologous Adipose Cells therapy treatment, which involves processing fat cells from their own body to enhance skin and hair appearance. The therapy is monitored by the primary investigator for up to 25 weeks to evaluate outcomes. This study includes only one treatment group receiving this biological intervention. During the study, participants will undergo various assessments including imaging, satisfaction surveys, and evaluation reports from the first visit before treatment through the last follow-up visit between weeks 16 and 25. The plastic surgeon will monitor treatment effects and safety over a six-month period. The total involvement spans from initial treatment to multiple follow-ups to track skin and hair improvements and participant satisfaction.

Researchers are studying pseudoxanthoma elasticum (PXE), a rare genetic disease that causes excessive tissue mineralization leading to skin, vascular, and eye problems, including vision loss. This study aims to compare blood flow deficits in the choriocapillaris, a layer in the eye important for retinal health, between healthy individuals and PXE patients. The goal is to find early changes in eye structures that could help track the disease progression and support evaluation of future treatments. The study uses a non-invasive eye imaging technique called optical coherence tomography angiography (OCT-A) to measure choriocapillaris flow deficits. Participants include healthy volunteers and PXE patients in early disease stages. During a scheduled ophthalmology visit, participants undergo eye exams including visual acuity testing, slit lamp exam, fundus photography, and OCT-A scans. Additional patient history and genetic information are collected for PXE patients. The study plans to include 60 healthy controls and 60 PXE patients. Participants provide personal and medical history information and undergo detailed eye assessments to rule out other eye diseases. Imaging data from OCT-A scans are analyzed to measure blood flow deficits in a single selected eye. Researchers will compare these findings between groups and explore links to factors like skin inflammation and vascular issues. The study will continue until late 2026, with data collection occurring during the inclusion visit. Safety and image quality are closely monitored throughout.

Researchers are studying a new polynucleotide-based soft-tissue filler called PN30 (RDM16) designed to improve skin hydration, elasticity, and turgor. This clinical investigation is a pre-market, two-stage, single-arm trial to evaluate both the safety and performance of PN30, a product developed using High Purification Technology Polynucleotides (PN HPTTM). These polynucleotides are natural substances with moisturizing and viscoelastic properties, intended to act as temporary fillers that enhance skin appearance by increasing hydration and firmness. The study involves administering PN30 via intradermal injections in a single treatment arm. PN30 is provided as a sterile, viscoelastic gel in prefilled syringes, containing 3% polynucleotides derived from natural fish origin. The investigation is adaptive with two stages: Stage I focuses on safety assessment through skin examination and monitoring of device-related events, while Stage II evaluates the product's aesthetic performance using various skin assessment tools. Participants will undergo injections and attend scheduled visits over approximately 12 weeks, during which researchers will assess skin reactions, hydration, elasticity, turgor, and patient satisfaction. Tools used include the Global Aesthetic Improvement Scale (GAIS), MoistureMeterEpiD, ElastiMeter, and pain rating scales. Safety monitoring will continue through adverse event tracking and device deficiency checks. Participants must follow study guidelines regarding cosmetic use and sun exposure throughout the trial.

Researchers are evaluating Quantum, a fully internal bipolar radiofrequency probe, to study its safety and effectiveness in reducing prominent skin laxity among adult patients undergoing High-Definition (HD) Liposculpture. This prospective interventional study also explores whether factors like age, gender, and skin phototype affect the treatment's success in making skin appear more toned and youthful. In this study, all participants will undergo standardized HD Liposculpture followed by the use of the Quantum device. The device is inserted through the same incisions used during liposculpture and delivers radiofrequency energy in a controlled grid pattern across the treated area. Energy is applied at specific settings (15 J, pulse mode 3.0 pps) to evenly treat both superficial and deep skin layers. Follow-up periods include immediate post-treatment and assessments at 1, 3, and 6 months after the procedure. Participants will be evaluated before and after treatment using an Elastometer to measure skin elasticity, viscoelasticity, and time to skin retraction. Data on demographics, clinical variables, surgical parameters, blood markers, complications, and patient satisfaction (via the Global Aesthetic Improvement Scale) will be collected securely. Photographs will document changes at baseline and during follow-ups up to 6 months. The study involves a total participation duration of 6 months with ongoing safety and effectiveness monitoring.

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder causing abnormal calcium deposits in the skin, eyes, and arteries, leading to symptoms like skin lesions, intermittent leg pain, strokes, retinal bleeding, and vision loss. These symptoms usually appear and worsen slowly over a lifetime, mainly affecting adults in later life, and have a significant impact on daily functioning. The study aims to evaluate a new way to recruit and follow PXE patients, adapting care paths to different patient profiles and including teleconsultations to improve patient monitoring and satisfaction. The study uses a before-and-after design with three periods over six years: Period A1-2 continues current recruitment and care methods to collect baseline data; Period A3-4 is a two-year transition implementing new alternating care pathways; Period A5-6 evaluates these new pathways when fully operational. The alternating pathways are tailored to patient age and symptoms and include multidisciplinary teleconsultations. Patients will be monitored through questionnaires and interviews to assess the impact of these changes. Participants will be PXE patients treated at the reference center who meet specific diagnostic criteria. Researchers will analyze overall patient follow-up data before and after the new system, including quality of life, satisfaction, and confidence questionnaires, plus interviews with patients, relatives, and doctors. The main measure is the number of patients properly followed up under the new care model, with ongoing data collection over the study periods to compare outcomes and optimize care.

This research investigates Pseudoxanthoma Elasticum (PXE), a rare inherited metabolic disorder causing progressive calcification in connective tissues that affects the skin, eyes, blood vessels, and kidneys. PXE results from a gene loss-of-function that lowers plasma levels of inorganic pyrophosphate (PPi), an important anti-calcifying molecule. The trial aims to evaluate the safety and effectiveness of daily oral PPi salt supplements compared to placebo in patients with PXE. Participants in this study will be randomly assigned to receive either PPi supplement capsules or placebo capsules once daily for 12 months. This double-blind trial compares these two groups to assess whether PPi supplementation can impact disease progression. The study is led by the Centre Hospitalier Universitaire de Nice and includes careful monitoring and follow-up during the treatment period. Throughout the trial, participants will undergo clinical evaluations focusing on arterial calcification scores after 12 months, along with assessments of skin and eye changes and vascular health. The research team will monitor safety, symptoms, and treatment adherence during regular visits. The total participation lasts for the 12-month treatment period, and progress will be measured using detailed clinical observations and imaging.

Researchers are conducting a monocentric observational study at the University Eye Hospital Bonn to explore the natural history and structural effects of a diseased Bruch's membrane (BrM) in people with Pseudoxanthoma Elasticum (PXE). The study aims to analyze BrM changes, choriocapillaris blood flow deficits, progression of retinal atrophy, and how different ABCC6 gene mutations relate to disease features and severity. The goal is to provide insights that could guide personalized treatments and improve patient counseling. The study will include 100 genetically confirmed PXE patients and 100 healthy controls. Participants will undergo non-invasive imaging methods such as high-resolution optical coherence tomography (OCT), OCT angiography, fundus photography, and infrared reflectance imaging. Blood samples will also be collected. Data will be gathered over a 10-year period, with specific attention to changes observed over two years, including the size of 'Peau d'orange', BrM alterations, choriocapillaris flow voids, and angioid streak length. Participants will be asked to hold still during imaging sessions to ensure accurate data capture. The study involves regular monitoring of eye structures and blood flow, as well as genetic analysis. Researchers will measure disease progression through various imaging outcomes and gene mutation correlations. Although no direct benefit is expected for participants, the findings may help shape future clinical trials and improve care for PXE patients.