10 Clinical Trials for Various Conditions
In this study, an artificial intelligence model to detect squamous cell carcinomas (SCC) on photos of recessive dystrophic epidermolysis bullosa (RDEB) skin is developed. The ultimate goal is to integrate this model into an app for patients and physicians, to help detect SCCs in RDEB early. SCCs which rapidly metastasize are the main cause of death in adults with RDEB. The earlier an SCC is recognized, the easier it can be removed and the better the outcome. AI leverages computer science to perform tasks that typically require human intelligence and has recently been used to identify skin cancers based on images. We are currently developing an AI approach for early detection of SCC and distinction of malignancy from chronic wounds and other RDEB skin findings. The aim is to create a web application for patients with RDEB to upload images of their skin and get an output as to SCC present/ no SCC. This will be especially valuable for patients with difficult access to medical expertise and those who are hesitant to allow full skin examination at each visit, often because of fear of biopsies. Thus, this project will directly benefit patients by allowing early recognition of SCCs and will empower patients and their families by providing a home use tool. So far, the study team has mainly used professional images (photographs taken in hospital settings by physicians, nurses, and clinical photographers) of both SCCs in RDEB and images of RDEB skin without SCC to develop and train the AI model. The images that are expected in a real-life setting will mostly be pictures taken by patients or family members with their phones or digital cameras. These images have different properties regarding resolution, focus, lighting, and backgrounds. Incorporating such images will be crucial in the upcoming phases of model development-testing and validation-for the web application be a success for patients.
Epidermolysis Bullosa Dystrophica
The aim of this clinical trial is to investigate the efficacy (by monitoring overall improvement of EB symptoms) and safety (by monitoring adverse events) of three doses of allo-APZ2-EB administered intravenously to patients with recessive dystrophic epidermolysis bullosa (RDEB).
Recessive Dystrophic Epidermolysis Bullosa
The objective of this study is the development, implementation and management of a registry of patient data that captures clinically meaningful, real-world, data on the diagnosis, nature, course of infection, treatment(s) and outcomes in patients with complex disease globally.
Infectious Disease, Neoplasms, Diseases of the Blood and Blood-Forming Organs and Certain Disorders Involving the Immune Mechanism (D50-D89), Endocrine, Nutritional and Metabolic Diseases (E00-E89), Mental and Behavioural Disorders, Diseases of the Nervous System, Diseases of the Eye and Adnexa, Diseases of the Ear and Mastoid Process, Diseases of the Circulatory System, Diseases of the Respiratory System, Diseases of the Digestive System, Diseases of the Skin and Subcutaneous Tissue, Diseases of the Musculoskeletal System and Connective Tissue, Diseases of the Genitourinary System, Pregnancy, Childbirth and the Puerperium, Certain Conditions Originating in the Perinatal Period, Congenital Malformations, Deformations and Chromosomal Abnormalities (Q00-Q99), Symptoms, Signs and Abnormal Clinical and Laboratory Findings, Not Elsewhere Classified, Injury, Poisoning and Certain Other Consequences of External Causes, External Causes of Morbidity and Mortality, Factors Influencing Health Status and Contact With Health Services
Recent retrospective studies have demonstrated differences between pulse oximeter values (SpO2) and measured arterial oxygen saturation (SaO2) in patients identifying as Black or Hispanic. These retrospective studies have limitations because self-reported race is likely not an accurate metric for level of skin pigmentation and the retrospective nature of these studies may impact the accuracy of simultaneous measures of arterial oxygen saturation and pulse oximeter values. The few prospective studies that have evaluated this issue have utilized color-matching techniques to quantify skin pigmentation, and fewer studies have directly measured skin pigmentation in relation it to pulse oximeter accuracy. The aim of this study is to prospectively measure pulse oximeter accuracy in relation to measured levels of skin pigmentation in the congenital heart disease population.
Hypoxemia, Skin Pigment, Congenital Heart Disease
This is a clinical readiness skin punch biopsy sample collection study. This will allow to reduce manufacturing time when patients are identified as eligible to receive product under separate interventional treatment protocol.
Congenital Heart Disease (CHD), Congenital Heart Defect
In this prospective study, the investigators will enroll 154 children with arterial lines to determine the accuracy of pulse oximeters in children with darker skin pigmentation. Studies in adults suggest pulse oximeters may overestimate the true level of oxygenation in the blood as measured directly by co-oximetry. However, pediatric data are relatively limited. This study, which is funded by the FDA through the Stanford-UCSF (University of California San Francisco) Clinical Excellence in Regulatory Science and Innovation (CERSI) Program, will determine if the error/bias is associated with skin pigmentation and whether the error falls outside FDA standards. The broader purpose of the study is to work toward eliminating health disparities.
Congenital Heart Disease in Children, Cardiomyopathies
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.
Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection
The trial is conducted in Asia, Europe and North America. The aim of the study is to evaluate the safety of administration under the skin of turoctocog alfa pegol (SC N8-GP) in patients with severe haemophilia A.
Congenital Bleeding Disorder, Haemophilia A
This study is to compare the ability of optical biopsy. Research can use light enters the skin, collected, analyzed by the computer, and a picture created for the pathologist to conventional histologic examination compare with the pathologist looking at the piece of tissue through a microscope makes the diagnosis.
Malignant Melanoma, Merkel Cell Carcinoma, Basal Cell Carcinoma, Squamous Cell Carcinoma, Atypical Nevi, Congenital Nevi, Seborrheic Keratosis, Paget's Disease, Dermatofibroma, Kaposi's Sarcoma, Port Wine Stain, Hemangioma, Tattoos, Scleroderma, Burns
This is a placebo-controlled clinical trial to assess whether Guanfacine Extended Release (GXR) reduces aggression and self injurious behavior in individuals with Prader Willi Syndrome (PWS). In addition, the study will establish the safety of GXR with a specific focus on metabolic effects.
Prader-Willi Syndrome, Aggression, Self-Injurious Behavior, Pathologic Processes, Behavioral Symptoms, Intellectual Disability, Neurobehavioral Manifestations, Neurologic Manifestations, Nervous System Diseases, Abnormalities, Multiple, Congenital Abnormalities, Chromosome Disorders, Genetic Diseases, Inborn, Obesity, Overnutrition, Nutrition Disorders, Antihypertensive Agents, Neurotransmitter Agents, Molecular Mechanisms of Pharmacological Action, Physiological Effects of Drugs, Skin-Picking