Marfan 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 the efficacy and safety of pegtibatinase compared with placebo in participants aged 12 to 65 years who have classical homocystinuria (HCU) due to cystathionine beta synthase deficiency. This global Phase 3 study includes participants who continue to have plasma total homocysteine (tHcy) levels of 50 micromolar or higher despite receiving standard of care treatments. The study aims to better understand the effects of adding pegtibatinase to current treatments. Participants will be randomly assigned to receive either pegtibatinase or a placebo in a blinded fashion. The treatment is administered subcutaneously twice weekly. The study includes several periods: an initial screening of up to 4 weeks, a pre-treatment diet standardization period of up to 6 weeks to maintain consistent protein intake, followed by a 24-week blinded treatment phase that includes a 2-week dose adjustment period and 22 weeks of treatment assessment. A safety follow-up of 4 weeks is conducted after the last dose for those not continuing into the long-term extension study. During the study, participants will have regular visits including some home visits and possible remote assessments. Dietitians will monitor dietary protein intake and treatment compliance using specific tools to ensure stable conditions. Researchers will measure changes in plasma tHcy levels, particularly focusing on changes between weeks 6 to 12 as the primary outcome. Safety and adherence will also be closely monitored throughout the study, which can last up to 38 weeks in total.

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.

Researchers are evaluating advanced surgical simulation techniques for correcting complex skeletal deformities and abnormalities in children, adolescents, and young adults with musculoskeletal disorders. These conditions often involve rare and severe abnormalities in bone, joint, and muscle-tendon development, affecting multiple limbs and presenting challenges in standardizing treatment and predicting outcomes. The study focuses on improving surgical planning and support tools using 3D modeling and printing technologies, aiming to enhance precision, safety, and reproducibility of surgeries. The study involves surgeries to correct bone deformities, supported by preoperative virtual surgical planning and the use of patient-specific instruments created through 3D printing. These include Patient-Specific Instruments (PSI) and Graft-Specific Instruments (GSI), which are designed to improve surgical accuracy. The research is conducted within specialized 3D laboratories at the Musculoskeletal Apparatus Network centers, where surgical simulations and planning procedures are systematically organized and standardized. Participants will undergo assessments including radiological follow-up and clinical-functional evaluations at the time of surgery and after one year. Researchers will measure outcomes such as the degree of skeletal correction achieved, operating room times, fluoroscopy times, blood loss, and any intra- or peri-operative complications. The suitability of the patient-specific instruments and bone grafts will also be evaluated. The study aims to improve surgical quality and efficiency while monitoring participants throughout a one-year period post-surgery.

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 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 collecting biological samples from patients with Marfan syndrome or related syndromes to support research focused on understanding the disease's effects and progression. Marfan syndrome is a genetic condition that affects the eyes, heart, and skeleton, and is also linked to reduced muscle and fat mass and lower exercise endurance, which can impact quality of life. This observational study aims to gather and store these samples confidentially to help advance future studies on the condition's multisystem effects and to identify factors predicting disease severity. Participants include children aged 3 years and older, as well as adults with Marfan syndrome or related syndromes. During their regular clinic visits, extra blood and urine samples will be collected and stored with consent for research use. This biological collection will enable researchers to quickly access samples as new questions arise in Marfan syndrome research. Participants will be involved during their routine follow-up visits at the Rare Diseases Reference Centre. Samples are collected at enrollment and during these visits to build a comprehensive biological resource. Data confidentiality and patient consent are emphasized. The primary outcome is establishing this biological collection, which will facilitate ongoing and future research into the disease's pathophysiology and progression. The study is sponsored by the University Hospital, Toulouse, and participation spans from enrollment through sample collection at visits.

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.

This research aims to evaluate the software "Lipidica 1.0," designed to process lipidomic data from an in-house diagnostic device, for screening pancreatic cancer (PaC) in people at high risk due to family history, gene mutations, or hereditary pancreatic diseases. Pancreatic cancer often has a poor prognosis due to late detection and rapid progression. Early screening in high-risk groups may improve outcomes, and this study builds on previous findings showing distinct lipid profiles in pancreatic cancer patients. Participants are divided into two groups: those with confirmed resectable pancreatic cancer, who will have one baseline visit for blood sampling to analyze lipid profiles and tumor markers; and those at high risk without cancer, who will have two or three visits over up to 12 months. The high-risk group undergoes blood tests and medical imaging such as endoscopic ultrasonography, magnetic resonance, or computed tomography. The software's ability to distinguish between cancer patients and high-risk individuals without cancer is the main focus. Participants will attend visits for blood collection and imaging at the start and end of the study, with some having an additional visit based on initial results. Blood tests include lipidomic analysis, tumor markers CA 19-9 and CEA, HbA1c, and hCG for women of childbearing potential. Imaging assessments occur up to three times per participant. Researchers will analyze these data to verify the software's performance in differentiating disease presence. The study is expected to continue for about three years, with interim analysis after one year.