View clinical trials related to Genetic Diseases, Inborn.
Filter by:The goal of this prospective, diagnostic observational study is to learn about how imaging based markers for components of liver disease appear in children with obesity. It aims to determine whether the imaging markers (ultrasound and MRI) for liver disease can be tools to improve diagnostics for liver affection in children with obesity and to ascertain how the markers are related to multiple clinical measures, for example BMI and serology measure, and treatment effects over time.
The goal of this observational study is to provide a reference for clinicians to conduct genetic counseling and carry out preimplantation genetic testing of mitochondrial patients. The main questions it aims to answer are: - The relationship between mitochondrial mutation load and clinical symptom - The symptomatic threshold of common mitochondrial DNA mutations - The distribution of mitochondrial mutation load in offspring and genetic rule of mitochondrial DNA mutation - The minimum number of eggs taken by preimplantation genetic testing in mitochondrial mutation carriers Biological samples such as blood, urine, oral epithelial cells, nails, some granulosa cells, trophoderm cells, embryo culture fluid, embryo biopsy fluid, and embryo trophoblast cells of the participants will be collected and the mutation loads of them will be measured. The clinical symptoms and mutation load of the participants will be followed up once a year.
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges. This study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
LIPIGEN is an observational study involving Italian physicians and researchers in the field of diseases related to blood lipid levels. This study aims to improve the diagnosis and treatment of people with familial dyslipidaemias, including very common conditions such as familial hypercholesterolaemia (FH) and less common ones such as familial chylomicronidaemic syndrome (FCS). What does the study do? It collects information on Italian patients with Familial Hypercholesterolaemia (FH), following them in their normal clinical examination without adding extra procedures. It uses the data collected to further our understanding of diseases such as familial hypercholesterolaemia, examining how it is diagnosed clinically and by genetic testing, and evaluating the effectiveness of different treatments. It seeks to identify the genetic mutations that cause familial hypercholesterolaemia and other dyslipidaemias, helping to choose the most effective treatments. It evaluates the impact of long-term treatments and patient adherence to medication, as well as monitoring the incidence of cardiovascular events and other important outcomes. Who can participate? The study is aimed at people of all ages, from children to adults, with familial hypercholesterolaemia or other genetic dyslipidaemia. More than 50 centres throughout Italy are involved, making the study accessible to many. What does participation entail? Participants will continue with their normal clinical practice. Data such as family history, personal clinical findings and genetic information will be collected, without additional procedures. For some, further evaluations, such as ultrasounds, may be required to better study their condition. The LIPIGEN study not only helps to better understand diseases related to high cholesterol but also aims to improve patients' lives through more precise diagnosis and personalised treatments.
This is a single patient study of oral powdered fluoxetine to target developmental outcomes in a child with KCNC1-related disorder. This trial will be conducted at Holland Bloorview Kids Rehabilitation Hospital over 32 to 42 weeks, using a quasi experimental ABA phase design (placebo-fluoxetine-placebo) with randomized and blinded active treatment start and stop moments.
This research investigates the effectiveness and safety of large neutral amino acid (LNAA) supplementation in patients with classical phenylketonuria (PKU). Advanced brain imaging techniques alongside comprehensive neuropsychological and functional assessments will be employed. Short-term and long-term follow-up of participants will be conducted.
Pancreatic cancer is one of the diseases with the worst prognosis, which is mainly due to the initial asymptomatic prognosis. Unfortunately, the incidence of this disease in the Czech Republic is still increasing. In a certain proportion of patients, it is possible to predict the disease, e.g. due to family burdens. Regular follow-up of such individuals is the subject of the SCREPAN study: "Pancreatic Cancer Screening in High-Risk Persons".
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with SCN2A associated developmental epileptic encephalopathy
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings. The main questions this study aims to answer are: What is the utility of BeginNGS as compared to state newborn screening? What is the acceptability and feasibility of BeginNGS as compared to state newborn screening? What is the cost effectiveness of BeginNGS as compared to state newborn screening? Enrolled newborns will have a blood sample taken and will receive the BeginNGS test. Newborns will have also had the state newborn screening test.