Active clinical trials for "Congenital Abnormalities"

This is a Phase 2, multicenter, double-blind, sponsor unblinded, placebo-controlled, single-dose clinical study of CRD-4730 to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of CRD-4730 when administered as single oral doses to participants with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The study will have 2 cohorts in which participants with CPVT will participate in a 3-period, randomized 2-sequence study. Each participant will receive 2 different doses of CRD-4730 and 1 dose of matching placebo, with each study drug administered as a single dose.

Cerebrovascular malformations (CVMs) are a heterogeneous group of disorders and can be classified histopathologically into five main categories: arteriovenous malformations (AVMs), dural arteriovenous fistulas (AVDs), abnormalities of venous development or venous angiomas (VAS), cavernous malformations (CVMs), ) and capillary telangiectasis (TAC). A further classification, more useful from a therapeutic point of view, is the functional one, which provides for a subdivision into two categories: CVD with arteriovenous shunt - among which AVMs and AVD stand out - and CVD without arteriovenous shunt. AVMs and AVDs represent the two cerebrovascular malformations of greatest interest in the field of interventional neuroradiology. AVMs generally have a congenital origin, an estimated prevalence in the population of 0.005-0.6% and are most commonly diagnosed between the ages of 20 and 40, with an estimated annual bleeding risk between 4% and 4%; AVDs are rarer and have a predominantly acquired origin, in relation to previous thrombosis and trauma. Intra- and extra-parenchymal hemorrhages are a frequent finding of cerebral vascular malformations, associated or not with headache, epileptic seizures or focal neurological deficits (from mass effect or vascular steal, with consequent ischemia); in this particular situation, the patient is subjected in the shortest possible time to a clinical-anamnestic assessment, to evaluate the severity of the clinical picture, which is followed by a tomographic examination to evaluate the extent of the lesions and classify the malformation- classification of Spetzler-Martin for AVMs and Cognard or Borden classification for AVDs. Therefore, it is the authors' intention to conduct a retrospective and prospective observational study with the aim of exploring the possible implication of new variables that can predict with sufficient accuracy the outcome of patients with ruptured and unruptured cerebral vascular malformations; a possible positive response could be followed by a more structured clinical trial with which to derive the appropriate conclusions with greater methodological soundness.

The goal of this observational study is to compare the use of a screw made of human bone (Shark-Screw®, Surgebright-GmbH) with the metal/Bio-Tenodesis screw (Arthrex) in the treatment of the symptomatic flatfoot using the medializing calcaneus osteotomy with flexor digitorum longus transfer (FDL) in adult patients. The advantage of the human bone screw is that after surgery no hardware removal is necessary. The screw is transformed from the body to normal bone. The main questions it aims to answer are: Can the human bone screw achieve union rates like the metal/Bio-Tenodesis screw? Is the time to union similar between the different screws? Is the complication rate similar between the different screws? Are the activity scores American Orthopaedic Foot and Ankle Society (AOFAS), Foot and Ankle Outcome Score (FAOS) and Foot Function Index (FFI) after surgery similar in the compared patient groups? Participants will have the surgery follow-ups at 6 weeks, 6 months, 1 and 2 years. X-rays are performed at each follow up. CT-scans are performed after 6 months. activity scores are collected at the follow up after 6 months, 1 year and 2 years.

To investigate the efficacy of semaglutide in obese infertile women of childbearing age with polycystic ovary syndrome (PCOS), we design this prospective, randomized, open and controlled study. 75 obese infertile PCOS patients will be recruited and randomized into three groups: metformin, semaglutide and metformin+semaglutide, on the basis of calorie-restricted diet and physical exercise. All subjects will be treated for 12 weeks, and then stop taking the drug for at least 8 weeks to initiate ovulation induction or ovulation induction combined with artificial insemination. All subjects will be followed up for 24 weeks for pregnancy outcome. The primary endpoint of the study is the percentage of weight loss at 12 weeks of treatment. The secondary endpoints include HOMA-IR and androgen levels at 12 weeks of treatment, ovulation rate at 24 weeks of follow-up, clinical pregnancy rate and cumulative pregnancy rate, and depression, anxiety, diet and quality of life scores at 12 weeks of treatment.

The goal of this observational study is to investigate the relationships between the medial longitudinal arch (MLA) height of the foot and clinical and radiological characteristics of knee osteoarthritis in adult patients 50 aged and over. The main questions it aims to answer are: Is there any relationship between knee pain and disability in knee osteoarthritis and MLA height? Is there any relationship between the radiologic severity of knee osteoarthritis and MLA height? Is there any relationship between knee joint alignment in knee osteoarthritis and MLA height?

The main purpose of this study in participants with PIK3CA-mutated lymphatic malformations (LyM) is to assess the change in radiological response and symptom severity upon treatment with alpelisib as compared to placebo.

The exact role of urinary tract infection in the appearance of chronic kidney disease is unclear. Children with congenital malformations of kidney and urinary tract have the higher risk of impairment of renal function. To understand if the use of antibiotic prophylaxis can reduce the risk of urinary tract infection in children with these malformations, this study will randomize children in two groups. Group A will not take antibiotic prophylaxis, Group B will take antibiotic prophylaxis for 2 years. This study will assess if antibiotic prophylaxis reduce the risk of urinary tract infections in these children and if urinary tract infections influence the appearance of renal damage. Our hypothesis is that prophylaxis reduce the risk of infection in severe vesicoureteral reflux and that urinary tract infections, in morphologically normal kidneys, will not result in chronic renal failure.

Substance use disorders and psychopathy are serious and costly mental health issues. Psychopathy is known to be associated with aberrant moral decision making and there is considerable interest in determining whether substance use disorders lead to impairments in these same cognitive processes. Recent large-scale research initiatives in forensic settings have begun to identify substance abuse and psychopathy-related disruption in the neural mechanisms involved in moral decision-making processes, and associations between these neural networks and future relapse and antisocial behavior. Here the investigators extend prior work (with incarcerated men) to examine these issues among incarcerated women in order to better understand sex differences. This project addresses the overall lack of neurocognitive research in criminal offenders with substance use disorders, thereby focusing on a major public health issue in an underserved and understudied population.

PAULA aims to collect data on the safety, performance, and effectiveness of iFuse Bedrock Granite (GRANITE) in patients who have spinal fusion surgery with pelvic fixation/ fusion.

All the data of patients with patellar dislocation will be collected to evaluate the anatomic deformities. The data includes X-ray, CT, MRI examinations, medical records, and physical examination information. Finally, we correlate the anatomic deformities with clinical efficacy. To search for the risk factors that lead to patellar dislocation and influence the therapeutic effect.