Ehlers-Danlos Syndrome

Researchers are studying pulmonary arterial hypertension (PAH), including its common subtypes idiopathic PAH (IPAH) and connective tissue disease-associated PAH (PAH-CTD). The study aims to develop pulmonary vascular biomarker signatures using hyperpolarized 129Xe MRI to differentiate these subtypes and to evaluate the ability of this imaging to monitor disease progression and treatment response over time. Additional assessments such as laboratory tests, echocardiography, and six-minute walk distance (6MWD) are also used to support these evaluations. The study is observational and enrolls 20 subjects divided into two groups: 10 with IPAH and 10 with PAH-CTD. Participants will undergo hyperpolarized 129Xe MRI and MR spectroscopy at baseline, 3 months, 6 months, and 12 months. Alongside imaging, data from standard clinical assessments including labs, echocardiography, and 6MWD will be collected at these same timepoints to track changes. Participants will be monitored for changes in pulmonary vascular remodeling, red blood cell oscillation amplitude, 6MWD, NTproBNP levels, and WHO functional class over one year. Safety is assessed by tracking adverse events, serious adverse events, withdrawals, and specific examinations such as electrocardiograms and vital signs. The total follow-up period for each participant is one year, with multiple scheduled evaluations to comprehensively assess disease status and response.

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.

This research aims to evaluate the safety and effectiveness of the Thermage FLX System, a device designed to improve lines and wrinkles and lift and tighten loose skin in adults aged 30 to 60 years. The study is a prospective, randomized, multicenter trial conducted at approximately 10 sites in North America and China. It focuses on mild-to-moderate skin laxity and wrinkles on the neck, abdomen, upper arms, and face. Participants are randomly assigned to receive treatment with the Thermage FLX device either on day 1 or day 90. The study compares treated participants with an untreated control group to assess improvements in skin appearance. The treatment involves a non-invasive radiofrequency procedure designed for dermatological use. During the 6-month (26-week) study, participants will attend scheduled visits for assessments by independent blinded evaluators. Researchers will measure the primary outcome at 90 days and secondary outcomes at 180 days after treatment. Safety, tolerability, and skin improvements will be closely monitored through various clinical evaluations and participant follow-up throughout the study period.

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 post-operative management approaches after a modified Lapidus arthrodesis surgery for hallux valgus, with or without additional surgeries such as Akin or Weil/Hohmann procedures. The study aims to compare the effectiveness and safety of immediate full weight-bearing versus partial weight-bearing (10-15 kg) during rehabilitation. This randomized controlled trial explores a new rehabilitation method following foot surgery to improve recovery. Participants will be randomly assigned to one of two groups after surgery: one group will follow partial weight-bearing with a specialized VACOPASO shoe and use crutches along with antithrombotic medication for 6 weeks, while the other group will have immediate complete weight-bearing with the same shoe and medication for the same period. The surgical operation follows standard clinical practices for hallux valgus correction. During the study, healing progress will be monitored through standard X-rays at 6, 12, and 24 weeks to check bone healing, hardware fixation, and fracture alignment. Pain will be measured using a Visual Analogue Scale at the day of surgery and at follow-up visits. Quality of life and functional recovery will be assessed through established foot and ankle scoring systems at multiple time points. The main outcome is the subjective functional recovery measured by the Olerud and Molander Ankle Score at 6 weeks post-surgery.

Researchers are evaluating the long-term safety and effects of belimumab in adults with interstitial lung disease (ILD) linked to systemic sclerosis (SSc) and other connective tissue diseases (CTD). This open-label extension study builds on previous randomized controlled trials to see if belimumab can continue to slow lung function decline, disease progression, and improve quality of life in these patients. Participants in this study will receive belimumab as the investigational treatment. The study continues from prior trials, focusing on long-term use and tolerance. Participants will be monitored over time to assess how well belimumab is tolerated and its impact on lung function and overall disease status. During the study, researchers will track adverse events, including serious and special interest events, for up to approximately five years. They will also measure changes in lung function using forced vital capacity (FVC) at multiple time points: baseline, 12, 26, and 52 weeks. Participants will undergo regular assessments to monitor safety, disease progression, and quality of life throughout the study period.

Researchers are evaluating the safety and effectiveness of Oleogel-S10 gel in treating skin wounds caused by two inherited forms of epidermolysis bullosa (EB), called junctional EB (JEB) and dystrophic EB (DEB), specifically in the Japanese population. This trial aims to find out if Oleogel-S10 gel can close wounds or reduce their size within 45 days, assess its safety, and measure how much of the gel enters the bloodstream. Both children and adults are invited to join this study. Participants apply Oleogel-S10 gel to their EB wound dressings at least once every four days for 45 days in Part 1 of the study. They visit the clinic every two weeks for checkups and tests during this period. Those who complete Part 1 may choose to continue in Part 2, where they keep receiving Oleogel-S10 gel until it becomes available for purchase in Japan or until the study is stopped by the company. During the study, participants will have regular clinic visits for examinations and tests to monitor wound healing, safety, and drug exposure. Researchers will evaluate the gel's effect on wounds up to 45 days in Part 1 and up to 90 days in Part 2. Safety and tolerability will be assessed throughout the study, which may continue until 2029. Participants will be supervised closely and asked to follow all study instructions and procedures.

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 impact of a 6-month adapted physical activity program (APA) on endurance in children and teenagers with Marfan syndrome or related conditions. Marfan syndrome involves connective tissue fragility causing multisystem damage, including musculoskeletal problems, fatigue, and pain, which affect quality of life. Prior studies showed reduced endurance in this group, which improved after intensive rehabilitation, prompting this study to assess a more practical, daily-life adapted program. The study involves a personalized training program designed by an APA coach based on a thorough assessment including a cardiopulmonary exercise test measuring maximum oxygen consumption (VO2 peak). The program is tailored to the child's lifestyle and interests and is shared with the child and family via videoconference. The coach will regularly adjust the program every two weeks through phone calls to support ongoing participation. Participants attend two visits spaced six months apart at the Toulouse University Hospital, where they undergo exercise testing and evaluation by the APA coach. The main outcome is the change in endurance capacity measured by VO2 peak from baseline to six months. The study aims to improve endurance, prevent physical deconditioning, and enhance long-term health benefits for children with Marfan syndrome.