Loeys-Dietz Syndrome

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 studying the natural progression of Interstitial Lung Disease ILD and related conditions such as Idiopathic Pulmonary Fibrosis, Sarcoidosis, and Connective Tissue Disorder. The goal is to collect detailed data and blood samples from patients receiving care in the ILD program as well as from a control group to better understand the different ways these diseases can appear and progress over time. Participants in this observational study will not receive a specific treatment but will contribute data and blood samples over time. This approach allows researchers to compare disease characteristics in affected patients with those in healthy controls, aiming to describe the phenotypic expression of these lung diseases. Throughout the study, participants will have yearly evaluations to track the natural history of their lung disease. Data collection will include clinical assessments and blood samples to monitor disease progression. The study is ongoing, with participation potentially lasting for many years, allowing for long-term observation of the disease course.

Researchers are evaluating skin changes in adult women with moderate-to-severe cheek wrinkles using non-invasive imaging methods. The goal is to study the effects of treatments aimed at improving volume deficiency, skin laxity, and photo-aged skin in the mid-face area. This is an open-label, single-center study sponsored by Galderma R&D involving women aged 45 to 65 years. Participants will receive three treatments of Sculptra injections into the cheeks, spaced four weeks apart. Each treatment involves subdermal injections using a 25 G needle, with up to 18 mL total per session. The injections target the subcutaneous and supraperiosteal regions evenly across both cheeks. The study focuses on monitoring structural skin changes following these biostimulator treatments. During the study, participants will undergo standardized VISIA imaging and optical biopsy imaging at multiple time points 4, 8, 12, 16, and 20 weeks after baseline. Researchers will assess changes in the midface structure compared to before treatment. Participants must adhere to a skincare regimen provided by the study and allow photographs at each visit. Safety and response will be monitored throughout the study period, which runs until September 2026.

Researchers are evaluating the potential of a new technique called Brillouin microscopy to diagnose corneal conditions such as keratoconus and ectasia. The study compares the biomechanical properties of corneas in people with keratoconus, those with post-LASIK ectasia, and individuals with normal corneas. This observational study aims to better understand differences in corneal tissue using this advanced imaging method. Participants include volunteers with normal corneas, patients diagnosed with various stages of keratoconus, individuals who had LASIK surgery with or without complications, people scheduled for PRK or LASIK surgery, and patients with Fuchs endothelial corneal dystrophy. The study involves axial scans of the cornea using Brillouin imaging to assess and compare corneal biomechanics across these groups. Specific inclusion and exclusion criteria apply to each group based on diagnosis, prior surgeries, and other eye health factors. During the study, participants undergo corneal imaging to measure the corneas elastic modulus, reflecting its biomechanical properties. Researchers monitor these properties over time to evaluate the diagnostic capabilities of Brillouin microscopy. Participants will be assessed for corneal health through topography, pachymetry, and clinical evaluations, with the study lasting several years to gather comprehensive data. The research team also excludes individuals unable to understand imaging instructions or with certain eye conditions to ensure accurate measurements.

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 conducting a long-term observational study called ATHN Transcends to better understand non-cancerous blood disorders. This study follows participants with various hematologic conditions, including hemophilia, von Willebrand Disease, congenital platelet disorders, rare bleeding disorders, thrombosis, and other related conditions. The aim is to collect uniform and high-quality data on the safety, effectiveness, and treatment practices of new and existing therapies over many years, addressing gaps beyond initial clinical trials and real-world treatment outcomes. Participants are assigned to specific cohorts based on their diagnosis, such as Hemophilia, Congenital Platelet Disorders, and others. Within these cohorts, there are multiple study arms and modules focusing on different therapies or disease aspects, including gene therapy outcomes and product-specific data collection. Data is gathered through scheduled assessments at enrollment, every six months, annually, and as needed, with follow-up planned for a minimum of 15 years. The study also includes a biorepository for collecting biological samples to support current and future research. Throughout the study, participants provide information during regular visits, and data is collected about their medication use, bleeding events, and treatment effectiveness. Researchers monitor safety and treatment outcomes continuously to better understand long-term effects. The study involves comprehensive evaluations but does not involve administering treatments instead, it observes participants receiving usual care. Participants may remain in the study for many years, contributing to a valuable resource that helps improve understanding of blood disorders and their management.

Researchers are evaluating the effects of bovine and marine collagen supplements compared to a placebo on skin, hair, nails, and overall body health in healthy adult women aged 35 to 55 years. This randomized controlled trial, called the BECOME Study, aims to find which type of collagen is most effective at improving outcomes such as skin elasticity, nail strength, hair thickness, and other health markers related to skin and whole body wellness. Participants will take 10 grams of either bovine collagen, marine collagen, or a placebo powder daily throughout the study period. The study includes three groups receiving these supplements to compare their effects directly. The intervention lasts for 12 weeks, with assessments at the start, week 6, and week 12. During the study, participants will be evaluated on changes in nail growth and strength, skin elasticity and wrinkles, hair thickness and strength, skin pigmentation, and hydration. Subjective assessments of skin health and digestive quality of life will also be collected at baseline and follow-up visits. The trial includes safety monitoring and aims to capture both objective and personal perceptions of health improvements over the 12-week period.

Researchers are studying whether monitoring certain blood markers like circulating B-cell reconstitution and serum rituximab levels can help detect relapse in patients with autoimmune diseases treated with rituximab. The study focuses on autoimmune conditions such as rheumatoid arthritis, systemic lupus erythematosus, and autoimmune cytopenia, aiming to identify risk factors for clinical relapse based on these blood markers. Participants receive routine care monitoring after rituximab treatment, with clinical visits every three months during the first year and every six months thereafter. At each visit, blood tests measure total gammaglobulins, IgG, CD19 cells, and additional markers such as CD27 and CD38 B cells, serum rituximab, and anti-rituximab antibodies. The study compares these markers between patients who relapse and those who remain stable over time. During the study, leftover blood samples from routine care are used to analyze these immune markers over the first year of follow-up. Patients will be monitored regularly for up to five years, with assessments at each consultation to track their disease status. The main outcome is to identify the relationship between these blood markers and clinical relapse in various autoimmune disorders.

Researchers are evaluating the safety and effectiveness of custom-made devices, Zenith t-Branch devices, and physician-modified FDA-approved endovascular grafts for treating patients with complex aortic aneurysms, including abdominal, aortoiliac, thoracoabdominal, and aortic arch aneurysms. This study includes patients whose anatomy is unsuitable for currently marketed grafts in the United States, those who cannot wait for commercial device manufacturing, and those at high risk for open surgical repair. The study also includes patients with connective tissue diseases such as Marfan, Ehlers-Danlos, or Loeys-Dietz syndromes. The treatments involve custom-made fenestrated or branched stent grafts that are tailored to the patients anatomy by adding small holes fenestrations to allow blood flow to critical organs like the kidneys, liver, and intestines. Depending on the patients urgency and anatomy, repair is done with a custom-made device, a Zenith t-Branch device, or a physician-modified device. The device is inserted through small incisions in the groin or upper arm, and stents are placed through the graft fenestrations into affected blood vessels to maintain blood flow. Participants will be monitored over time to assess the success of the treatment and any major adverse events within 30 days of the procedure. Follow-up will continue for five years to evaluate long-term outcomes. Researchers will use imaging and clinical assessments to track treatment effectiveness, focusing on the proportion of patients achieving treatment success 12 months after the procedure. Safety and adverse events will also be closely monitored throughout the study.

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 treatments 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.