Stickler Syndrome

Researchers are studying children with type II collagen disorders who have short stature to better understand how these conditions progress over time. This observational natural history study aims to gather clinical, imaging, and laboratory data to identify possible predictors of disease progression and outcomes. The study will help provide important information that could guide future clinical trials on treatments for these disorders. The study will follow up to 60 children diagnosed with a type II collagen disorder for up to 3 years. During this time, participants will have visits every 3 months in the first year and then every 6 months thereafter. Assessments include physical exams, height measurements, vision and breathing tests, x-rays, and blood samples collected once or twice a year. The study activities closely follow the recommended care for children with these disorders. Participants will undergo regular evaluations to track changes in motor function, pulmonary health, eye assessments, skeletal abnormalities, and bone growth biomarkers. Questionnaires will assess quality of life, pain, and fatigue over time. Researchers will collect data retrospectively and prospectively for up to 3 years to understand the natural course and burden of the disease. This comprehensive monitoring will support safety and outcome assessments throughout the study.

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 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 10-year observational study called the Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS). This study aims to collect and analyze care data and adverse events for various congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR). The study focuses on individuals with diagnoses such as congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome, and related conditions, including those without genetic confirmation. Understanding these conditions better will help improve care standards and support future clinical trials. Participants register in the CMDIR by providing demographic information and completing an intake survey. They are also asked to share medical records related to their diagnosis and treatment, such as genetic testing results, muscle biopsy reports, pulmonary function tests, sleep studies, clinic notes, and hospital discharge summaries. The study collects data on multiple disease subtypes and tracks various health events and care parameters over time, aiming to build a comprehensive database. Throughout the study, participants provide ongoing information about their health status and adverse events, which researchers verify using medical records. Key outcomes include survival rates, hospitalization frequency, respiratory complications, and other health complaints. The study will also analyze measures like ejection fraction, lung function, sleep study results, growth, fractures, and bone density. Data collected will contribute to evidence-based care guidelines and help identify meaningful outcomes for future clinical trials. Participation requires no travel as data collection is done remotely through the registry.

This research aims to find genetic causes of unexplained congenital skeletal disorders (GSDs) and better understand their natural development and complications. It is a 5-year project involving collaboration among genetic and bone research institutions. The study focuses on participants with unsolved GSD diagnoses, using advanced genetic testing to identify new gene variants and study their effects in cells and animal models. The goal is to improve diagnosis, knowledge of disease mechanisms, and future treatment strategies for skeletal diseases. Participants include a well-characterized group of 300 individuals with GSD, including 120 with unknown diagnoses. Researchers use whole genome sequencing and RNA sequencing to search for molecular causes. Candidate gene variants are selected with support from clinical findings and large genetic databases. The effects of new variants are studied both in laboratory cells and in transgenic mice to understand their role in disease. During the study, data on the genetic changes, clinical features, and complications of different GSD groups are collected and summarized. The project tracks new gene discoveries and gathers information about the natural course of rare skeletal disorders. This information aims to help develop personalized follow-up and treatment plans. Participation involves genetic sample analysis and clinical data review, with an overall focus on advancing scientific knowledge about skeletal diseases over the 5-year period.

Breast tumors, especially breast cancer, are becoming more common in China with an increasing number of younger patients. Research suggests that Type III Collagen (COL3) plays an important role in protecting tissues and organs within the tumor environment and may slow tumor progression by remodeling this environment. However, no clinical studies have yet explored COL3 in breast tumors. This trial aims to study the effects of locally injecting recombinant humanized Type III Collagen (rhCOL3) during breast tumor surgery to assess its potential benefits and safety. Participants will be randomly assigned to one of two groups: one group will receive injections of rhCOL3 around the tumor before surgery and again around the surgical area skin after confirming safe surgical margins during surgery. The other group will receive saline injections following the same procedure as a control. The rhCOL3 will be given at specific points around the tumor and along the skin incision during surgery. This study is a multicenter, prospective, randomized, open-label, parallel-controlled trial. During the study, participants will be monitored for short-term complications after surgery and radiotherapy over a three-month period. Researchers will also observe changes in clinical pathological indicators related to the tumor. Assessments will include clinical and imaging evaluations, with follow-up visits to track outcomes. The goal is to establish whether local rhCOL3 injection can provide protection and support treatment in breast tumor surgery over both immediate and long-term periods.

Researchers are studying people affected by rare inherited retinal degenerative diseases through the My Retina Tracker Registry. Sponsored by the Foundation Fighting Blindness, this observational study aims to better understand the diversity, prevalence, and natural history of these diseases and gene variants. It also seeks to support research and clinical trials by collecting detailed patient and clinical information over time. Participants create an online profile via a secure portal where they share their own perspective on their retinal disease, including family history, genetic test results, and general health. They can also invite their clinicians to add clinical exam data after each visit to build a comprehensive longitudinal record. The registry uses standardized data entry to maintain consistency and allows participants to compare their data with others. During the study, participants regularly update their profiles with personal and clinical information. Researchers measure the number of participants with rare diagnoses within the inherited retinal degenerative disease category, tracking data for up to 20 years. The registry supports recruitment for research while protecting patient privacy. Participation involves ongoing data entry and clinical updates, contributing to a better understanding of these rare eye diseases.

Researchers are conducting a patient registry and natural history study called Coordination of Rare Diseases at Sanford (CoRDS) to support research on rare diseases. CoRDS is an international registry that connects patients with rare, undiagnosed, or uncommon diseases to researchers studying over 7,000 rare diseases. This program aims to help advance treatments and cures by facilitating easy collaboration between patients, advocacy groups, and researchers. It is based at Sanford Research in Sioux Falls, South Dakota, and is free for patients to join and for researchers to access. Participants provide contact, sociodemographic, and health information, which is entered into CoRDS and linked to a unique coded identifier. Examples of collected data include name, mailing address, phone number, email, date and place of birth, sex, gender, ethnicity, family history, and diagnosis-related information. De-identified information may be shared with approved researchers after review by an Institutional Review Board and expert panel. Some data may also be shared with other databases and patient advocacy groups, with protections to prevent misuse for research purposes. Participants are contacted yearly to confirm continued participation and to update their information. If a parent or legal guardian consents for a minor, the participant will be contacted at age 18 to provide their own consent. The primary goal is to accelerate research by connecting individuals interested in rare disease research with scientists over a long period of up to 100 years. There is no treatment given, as this is an observational registry study.

Researchers are studying Stickler syndrome, a genetic condition that increases the risk of retinal detachment, to evaluate how well a laser treatment called Ora Secunda Cerclage laser retinopexy (OSC/SS) can prevent retinal detachment. This trial compares the effects of the OSC/SS procedure to the natural course of Stickler syndrome without treatment, using historical data from a large database. The study aims to provide standardized documentation and treatment parameters to better understand and potentially set a new standard for preventing retinal detachment in these patients. The OSC/SS procedure involves using indirect ophthalmoscopy to apply 1500 to 2500 moderate intensity laser burns arranged in a 360-degree encircling pattern around the retina. Participants will receive this prophylactic laser treatment in one or both eyes. The study enrolls children, adolescents, and adults with genetically confirmed Stickler syndrome types 1 or 2. This is an interventional study where all participants receive the laser treatment, which is carefully documented and standardized. Participants will attend nine visits over five years at the study center for eye exams, imaging, and tests including photographic fundus mapping, optical coherence tomography, intraocular pressure, pupil measurements, slit lamp biomicroscopy, motility assessments, and vision acuity testing. Genetic testing for Stickler syndrome may also be done if needed. Researchers will monitor the number of participants who develop retinal detachment after treatment, track adverse events, and assess visual outcomes. Data from the untreated eye will also be collected if available. The total participation time is five years post-procedure.

This research aims to evaluate the safety and effectiveness of using an 18 mm short vitrectomy probe in eye surgeries for children with various retinal diseases. The study focuses on pediatric vitreoretinal surgeries, where smaller, stiffer instruments may improve surgical control and reduce complications compared to traditional longer probes. Researchers also want to assess how comfortable and confident surgeons feel using this shorter probe during operations. Participants will receive vitrectomy surgery using the 18 mm short vitrectomy probe designed specifically for pediatric eyes. This device is shorter and stiffer than the usual adult probes, which may help surgeons better handle delicate eye tissues and avoid injury. The study will track intraoperative complications, probe bending, and surgical outcomes, including anatomical and functional results after surgery. Surgeons will complete questionnaires about their experience using the probe. During the study, patients under 18 undergoing vitrectomy will be closely monitored. Data will be collected on surgical safety, effectiveness at 6, 12, and 24 months post-surgery, and surgeon satisfaction. Researchers will compare these findings to previous cases using longer probes. Follow-up assessments will include detailed eye exams to evaluate healing and success of the surgery, with ongoing observation to identify any need for additional procedures.