Treacher Collins Syndrome

Researchers are evaluating the accuracy and effectiveness of patient-specific plates (PSPs) designed through virtual surgical planning (VSP) for correcting a tilted upper jaw (maxillary cant) in people with facial asymmetry. This prospective clinical trial focuses on how well the actual surgery matches the planned virtual surgery and how satisfied participants are with their appearance after the procedure. The study addresses challenges in traditional surgery by using 3D planning and custom devices tailored to each patient's anatomy. Participants will undergo detailed CT scans to create 3D models of their craniofacial structure. Custom titanium plates and cutting guides are designed and manufactured using 3D printing and milling techniques. Surgery involves precise bone cuts guided by these tools to reposition the upper jaw as planned. The study includes a follow-up period of six months to monitor healing and assess outcomes. During the trial, participants will have multiple CT scans to compare the planned surgical corrections with the actual results. Researchers will evaluate the accuracy of bone repositioning by superimposing images taken before and after surgery at intervals of 1 week, 1 month, 3 months, and 6 months. They will also assess aesthetic results and participant satisfaction. Postoperative care and follow-up visits are standardized to ensure consistent monitoring throughout the study period.

Researchers are evaluating a two-stage minimally invasive method for reconstructing soft tissue in the face using a patient's own fat, focusing on wounded service members and veterans with post-traumatic craniofacial deformities. The study aims to compare fresh fat grafts with cryopreserved fat grafts stored at -80°C, assessing improvements in facial tissue regeneration, volume retention, and appearance. It also investigates how factors like cellular makeup of the graft, patient demographics, and medical conditions affect outcomes. The treatment involves an initial fat grafting procedure using freshly harvested fat to correct the facial deformity. Extra fat is collected and cryopreserved for a second procedure performed three months later, avoiding the need for another fat harvest. Small test injections are given behind each ear for research analysis. This approach is designed to improve tissue regeneration while reducing patient discomfort and costs associated with multiple fat harvests. Participants will undergo follow-up examinations over approximately six months, including CT scans and facial volume and appearance assessments at three months after each procedure. Researchers will track safety by monitoring treatment-related adverse events and study facial volume changes using high-resolution imaging. The study also collects patient data on demographics and medical history to correlate with treatment outcomes, with all procedures conducted under medical supervision.

Researchers are studying combined facial and upper extremity tissue transplants for patients who have not achieved satisfactory function, appearance, or sensation with conventional surgeries or prosthetics. This investigational surgery uses tissue from a non-living donor to restore these areas after severe injury. The study focuses on evaluating outcomes for those with injuries to the face, arm, forearm, and hand who have tried prosthetics when possible. The treatment involves a combined craniomaxillofacial and upper extremity allotransplantation procedure, which is a microvascular transplant of facial and upper limb tissue from a deceased donor. There is only one treatment group, and no placebo or control groups. Participants undergo this transplant surgery and then continue with follow-up evaluations. The study collects data on recovery, function, appearance, and sensation after the procedure. Participants are involved in regular clinical exams, x-rays, blood and tissue tests, and other assessments to monitor transplant function and appearance over time. These assessments occur monthly for the first 6 months, then every 6 months for 2 years, and annually up to 5 years. The study tracks changes in the function and appearance of the transplanted face and upper extremity segments to understand the outcomes and progress after surgery.

This research aims to evaluate different manufacturing techniques for creating facial prostheses for patients with facial defects such as auricular and nasal issues. The study compares direct printing of prostheses with indirect and direct mold-making methods to assess their esthetic outcomes and accuracy. The purpose is to find the best approach in prosthesis fabrication using advanced 3D scanning and printing technology. Participants are divided into three groups: one receives prostheses made by directly printing with a biocompatible soft resin; the second group has prostheses created through a directly designed negative mold based on digital models; the third group uses an indirectly fabricated mold by printing a resin prototype, duplicating it into wax, and then making a stone mold. All final prostheses are colored to match the patient's anatomy. During the study, patients undergo 3D facial scanning and intraoral scanning of the defect site. Esthetic outcomes are assessed using a visual analog scale through patient and operator questionnaires, scoring from 1 to 5. Prosthesis accuracy is measured by comparing the final prosthesis scans to the digital design using specialized software. The study tracks these outcomes over a 3-month period to monitor the performance of each manufacturing method.

This research aims to improve surgical results for children and young adults aged 5 to 20 years who have severe ear differences caused by congenital conditions like microtia, injuries such as dog bites, or ear tissue removed due to skin cancer. The study focuses on enhancing ear reconstruction techniques by using a new medical device designed to shape cartilage into precise forms, which helps surgeons create a more accurate ear framework, shortens surgery time, and reduces the need for wires. The study also examines other factors that could influence surgical outcomes. The trial compares two methods of ear reconstruction surgery. One group will have surgery using the AuryzoN™ EAR 2.0 device, which standardizes cartilage shaping with specialized blades to reduce operator skill dependence, minimize wire usage, and shorten procedure times. The other group will have surgery using the traditional hand-carved technique, where surgeons manually shape rib cartilage and assemble ear parts with steel wires. The study evaluates differences in appearance, stability, production time, operative time, morbidity, and cartilage resorption over the first year after surgery. Participants will undergo surgery and then be followed for up to five years. Researchers will assess patient and parent satisfaction with the ear's shape and look at reductions in surgery and assembly times, wire use, cartilage stability, and resorption rates. Additional tests include tissue analysis of banked cartilage between surgery stages and measuring changes in cartilage size. These evaluations aim to understand the benefits and challenges of the new device compared to traditional methods.

This research aims to improve genetic health for underserved children with rare disorders living along the Texas-Mexico border. It focuses on providing easier access to genetic evaluation and testing for Hispanic minority pediatric patients who often lack these services. The study seeks to shorten the time it takes to diagnose rare genetic diseases and enhance healthcare provider knowledge through education and machine learning support. Participants will receive virtual genetics evaluations through a web-based platform called Consultagene, designed to simplify patient pathways and deliver care remotely in the Rio Grande Valley. All 200 recruited children will undergo whole genome sequencing (WGS) to detect genetic variants, including copy number variations and single nucleotide variants, which may aid in medical decision-making. The study also aims to build genomic competency among frontline healthcare providers to speed up referrals. Throughout the study, researchers will monitor how long it takes to reach a diagnosis within 12 months. Participants’ genetic data and diagnostic results will be collected and interpreted to support clinical care. The study involves ongoing education and machine learning tools to improve referrals and outcomes. Participation extends from enrollment through virtual evaluations, genetic testing, and follow-up over the study period ending in January 2027.

This research aims to establish face transplantation as a safe and effective reconstructive option for individuals with severe facial injuries or defects. The study evaluates a new immunomodulatory protocol, known as the Pittsburgh or Starzl Protocol, designed to minimize the need for long-term, high-dose immunosuppression, which traditionally carries risks like infection and cancer. This Phase II clinical trial plans to perform 15 full or partial face transplants using this approach to improve patient outcomes and quality of life. The treatment involves combining face transplantation with a novel donor bone marrow cell-based therapy followed by maintenance with a single immunosuppressive drug, tacrolimus. Patients first receive T-cell depletion with alemtuzumab, then the transplant is performed, and donor bone marrow cells are infused about 10 days later. Tacrolimus is given for at least six months before a gradual reduction might be considered in stable patients. Participants will be closely monitored throughout the study, which may last up to five years after transplantation. Researchers will assess graft survival as the primary measure, along with the immunosuppression levels needed to maintain the graft. The study includes evaluations of rejection risk, functional and aesthetic outcomes, and patient adherence to the protocol, aiming to support wider clinical use of face transplantation with fewer side effects.

This research evaluates two types of maxillary expansion devices in children aged 6 to 12 years with posterior crossbite and mixed dentition. The trial compares a leaf expander using nickel-titanium springs with a traditional Hyrax expander that requires manual activation. The study aims to assess differences in pain experienced during the first week after device insertion and observe skeletal and dental changes over time. Conducted as a randomized clinical trial, the study is sponsored by Cairo University. Participants receive an appliance cemented to their upper first permanent molars. One group uses a 9 mm leaf expander delivering approximately 900 g of force without requiring home adjustments. The other group uses a 9 mm Hyrax expander with a screw that participants activate twice weekly. After achieving the planned expansion, both devices remain passively in place for a 6-month retention period to maintain the correction. Throughout the study, children report daily pain levels for the first 7 days following insertion. Researchers also use imaging and digital models to measure skeletal expansion, dental tipping, and other parameters six months after expansion completion. The total follow-up period includes initial treatment and retention, with ongoing assessments to monitor outcomes and device effects.

This research aims to understand the development of craniofacial anomalies, which are conditions affecting the face, head, and neck. These anomalies vary from rare birth defects to more common developmental differences that appear around puberty. The study focuses on identifying genetic variants and creating a detailed database to better characterize these conditions and their impact on growth and facial structure. It includes both individuals with these abnormalities and comparisons with family members and healthy volunteers. Participants include people with craniofacial anomalies, unaffected family members, and healthy volunteers. The study involves multiple visits at key developmental stages: ages 2-6, 6-10, 11-17, and 18 and older. Visits may include medical history review, physical and oral exams, questionnaires, blood and urine tests, cheek swabs, cone beam CT scans, and photos. Offsite participants provide medical and dental records, leftover tissue samples, and biological samples. Participants may be followed for several years, with some visits requiring a few days near the clinic. Researchers will assess physical features using clinical evaluations and imaging techniques, while genetic data will be collected and analyzed. The main outcome is the creation of a comprehensive database of phenotypic and genetic information. This long-term study helps link clinical care with genetic understanding of craniofacial disorders.

Researchers are examining how various maternal lifestyle and environmental factors such as smoking, alcohol use, drug abuse, prescription medicines, and exposure to chemicals can affect human fetal development. The study focuses on fetuses between 7 and 20 weeks of gestation, a critical period for development, to better understand the mechanisms by which these exposures may cause long-term health issues like obesity, hypertension, metabolic syndrome, and infertility. This observational study aims to provide fundamental knowledge about normal fetal development and how adverse maternal influences can alter it, ultimately affecting health in adulthood. The study involves collecting multiple fetal organs and body fluids from normal pregnancies as well as pregnancies where the mother experiences challenges such as smoking, obesity, or exposure to pollutants. Researchers will use various laboratory and microscopic techniques to analyze hormones, genes, proteins, chemicals, and DNA from fetal tissues. The investigation covers many systems including the endocrine, reproductive, nervous, metabolic, cardiovascular, immune, musculoskeletal, and placental development. There is also a focus on maternal emotional health and its impact on the fetus, as well as a study on nerve repair potential. No active intervention is performed; this is a detailed observational research program. Participants will be involved during early pregnancy, with fetal tissue collection occurring between 7 and 20 weeks of gestation. Researchers will gather extensive data on fetal development and maternal lifestyle, including questionnaires related to alcohol use and emotional wellbeing. The main outcome is the creation of a large dataset describing normal fetal development and the effects of maternal environment, which will be used for future research to improve health outcomes. The study includes long-term follow-up of up to 10 years to assess how early fetal exposures relate to adult health and disease risks.