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 patients 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 patients 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 -80C, 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.

This clinical study is investigating the use of patient-specific 3D-printed titanium implants for reconstructing facial defects and improving facial appearance. It includes adults with congenital, traumatic, or post-surgical facial deformities that require reconstructive surgery. The aim is to evaluate the safety, effectiveness, and functional and aesthetic outcomes of these customized implants compared to traditional methods. Participants will undergo detailed preoperative assessments including clinical exams and high-resolution CT scans. Customized implants are designed using computer-aided design CAD and produced with selective laser melting 3D printing technology from medical-grade titanium. Surgical placement follows standard maxillofacial protocols with fixation to bone as needed. Follow-up includes clinical and radiological exams for up to 12 months after surgery. Throughout the study, participants will have assessments to monitor implant fit, stability, complications, facial symmetry, and patient satisfaction. Outcome measures include postoperative complication rates over six months, implant geometric accuracy immediately after printing, and aesthetic improvement scores at three months. Patient satisfaction and total surgery time are also recorded to evaluate the overall success and safety of this reconstructive approach.

Bells palsy is a sudden weakness or paralysis on one side of the face that affects facial movement, speech, eating, and emotional well-being. This study evaluates whether combining targeted neural mobilization with proprioceptive neuromuscular facilitation PNF improves facial symmetry and motor function more effectively than PNF alone in patients aged 15 to 60 with moderate to severe Bells palsy. The trial is a randomized controlled study conducted over one year with 36 participants. Participants are assigned by coin toss to either an experimental group receiving neural mobilization plus PNF and conventional therapy or a control group receiving only PNF and conventional therapy. Both groups attend sessions three times per week for four consecutive weeks, with each session lasting 30 to 45 minutes. Neural mobilization involves gentle facial nerve movement within a pain-free range, while PNF uses rhythmic initiation and resisted voluntary movements targeting specific facial muscles. Conventional therapy includes facial exercises with electrical stimulation and daily home exercises with mirror feedback. During the study, participants are assessed at the start and after four weeks using the House-Brackman scale and Sunnybrook facial grading system to measure facial paralysis severity and resting symmetry. Researchers monitor improvements in facial symmetry and motor function through these scales. Data analysis will be conducted using statistical software. The total participation time includes the four-week intervention period with regular assessments to evaluate treatment effects.

This research aims to compare the effectiveness of two devices used to correct ear deformities in newborns. The study evaluates whether a custom-made silicone device developed by the maxillofacial surgery department at Caen University Hospital is not inferior to the adjustable Earwell device, commonly used for this purpose. The trial focuses on newborns with ear malformations and seeks to provide evidence for treatment options in this early stage of life. Participants are randomly assigned to one of two groups one group receives correction using the adjustable Earwell device, and the other group receives correction using the custom-made silicone device. Both devices are applied to reshape the ear, and the study monitors the correction process over time. The treatment period and specific application details are managed according to established protocols for each device. During the study, participants will be assessed for ear deformation at the start and one year after treatment using a subjective ear deformation score. Researchers will conduct evaluations to monitor the progress and outcomes of the ear correction. The total duration of participation includes the treatment period followed by a one-year follow-up to measure long-term results. Safety and adherence to the treatment protocols will be observed throughout the study.

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 patients 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.

Researchers are evaluating the clinical results of resin-bonded fixed dental prostheses RBFDPs that are treated with a nanostructured alumina coating NAC compared to the standard air-borne particle abrasion APA method. This study specifically focuses on patients needing replacement of missing central or lateral incisors. The goal is to determine which surface pretreatment method better supports the retention and survival of zirconia RBFDPs in a controlled, randomized, double-blind clinical trial. Participants receive zirconia RBFDPs with surfaces pretreated either by APA control group or by NAC experimental group after milling of the prostheses framework. Both groups are treated by the same operator, and neither participants nor operators know the group assignments to maintain blinding. The study monitors the prostheses retention and survival rates, comparing the two pretreatment methods over time. During the study, participants undergo regular evaluations for up to one year to assess the prostheses survival and check for complications such as porcelain chipping, zirconia framework fractures, gingivitis, periodontitis, marginal leakage, and secondary caries. These assessments involve clinical examination and monitoring by dentists. The study aims to provide detailed data on the durability and clinical success of zirconia RBFDPs treated with NAC versus APA over the follow-up period.

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 ears 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.