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. This observational study aims to collect data and blood samples from patients receiving care for ILD, as well as from a control group, to better understand the different expressions of these diseases. Participants include patients diagnosed with ILD and a control group without the disease. The study involves gathering data and blood samples during their care without any specific drug or treatment interventions. The observational nature means participants continue their usual medical care while contributing information to the research. During the study, researchers will monitor the natural history and course of ILD yearly through data collection and blood sampling. This includes tracking disease progression and characteristics over time. Participation involves regular assessments as part of routine clinical care, with no experimental treatments given. The study is sponsored by the University of Chicago and is ongoing through December 2030.

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 Fuch's 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 cornea's 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.

Researchers are evaluating the Erchoniaae GVS Laser as a non-invasive treatment to improve the appearance of skin laxity in the abdominal area. This prospective open-label study includes independent blinded outcome analysis to assess the laser's effectiveness. The study focuses on adults with mild to moderate skin laxity who wish to improve their abdominal skin appearance. Participants will receive eight treatments of the Erchoniaae GVS Laser, which uses 405nm violet and 520nm green laser light therapy, over four weeks. This treatment is designed to be non-invasive and is applied directly to the skin in the abdominal region. The study does not include a placebo or control group and is open-label. During the study, participants will have research photos taken before and after treatment to evaluate changes. Independent evaluators will compare these photos at 12 weeks post-treatment to assess improvements. Participants are expected to maintain their weight and avoid other skin or fat reduction treatments during the study. Safety and adherence to the treatment schedule will be monitored throughout the study period, which concludes 12 weeks after treatment completion.

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 studying skin aging by examining clinical features, a dermoscopic photoaging scale called DPAS, and the length of leucocyte telomeres. The study aims to understand the profiles of photoaging through clinical examination, DPAS scores, and telomere length, focusing on adults aged 29 to 31 years and 59 to 61 years. Skin aging includes natural changes and damage caused by factors like smoking, pollution, and ultraviolet light. Participants will be examined by a dermatologist who will assess their skin using the Glogau scale and perform dermoscopic tests on the forehead, right cheek, left cheek, and chin to calculate DPAS scores. They will also have blood drawn (about 10 mL) to measure leucocyte telomere length using PCR methods. Participants will be asked about their average weekly sun exposure. This is an interventional study with randomized allocation and single masking. During the study, participants will undergo skin assessments including photography in five positions, dermoscopy, and blood tests. Researchers will monitor telomere length and skin aging profiles over one year. The main outcomes include leucocyte telomere length, clinical examination results based on the Glogau scale, and DPAS scores. Participants may also receive lifestyle counseling. The study includes monitoring signs of skin aging and sun exposure habits.

Researchers are studying people with various non-cancerous blood disorders to better understand the long-term safety and effectiveness of treatments used for these conditions. This observational study aims to collect consistent and high-quality data over time from patients with congenital or acquired hematologic and connective tissue disorders that cause bleeding or clotting problems. It addresses the need for reliable long-term information beyond initial drug approval trials and includes multiple disease-specific groups for comprehensive research. Participants will join one of several cohorts based on their specific blood disorder, such as hemophilia, von Willebrand disease, congenital platelet disorders, rare bleeding disorders, thrombosis/thrombophilia, or other non-neoplastic hematologic conditions. The study includes several arms and modules focusing on different therapies or patient groups, like previously untreated patients, gene therapy outcomes, and treatment with specific drugs (e.g., ALTUVIIIO® or Hemlibra®). Data collection occurs at enrollment and regularly every six months and annually, with additional data gathered as needed. During the study, participants will undergo various assessments including medical history, treatment records, bleeding event tracking, and biospecimen collection for future research. The study will follow participants for at least 15 years to monitor therapy safety and effectiveness. Researchers will analyze dosing patterns, bleeding rates, and real-world treatment outcomes while maintaining long-term participant follow-up and data quality.

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.