Search clinical trials by condition, location and status
The goal of this study is to discover new genetic causes of infantile epilepsies and evaluate the impact of these discoveries on infants with epilepsy and their families.
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.
This study collects data on children with severe, early-onset obesity.
Background: The genes a person is born with can sometimes cause serious diseases. Genetic diseases are rare, but they can have a big impact on the people they affect. Researchers have already made great strides in understanding how some genes cause disease. But they would like to have even better tools to analyze and understand genetic data. To create these new tools, they need to gather health and genetic data from a lot of people. Objective: This natural history study will gather medical information from people with genetic conditions. Eligibility: People of any age who (1) are known or suspected to have a genetic condition or (2) have a family member with a known or suspected genetic condition. Design: Participants will come to the clinic for up to 4 days. Tests to be performed will vary depending on the nature of each participant s health issue. The tests may include: Blood and saliva. Blood may be drawn from a vein; cells and saliva may be collected by rubbing the inside of the cheek with a swab. These would be used for genetic testing. Imaging scans. Participants may have X-rays or other scans of their bodies. They may lie still on a table while a machine records the images. Heart tests. Participants may lie still while a technician places a probe on their chest. They may also have stickers attached to wires placed on their chest. Photographs and recordings. Pictures may be taken of facial features, skin changes, or other effects of the genetic condition. Video and audio recordings may also be made. Some people may be able to participate via telehealth.
The primary purpose of this study is to discover new disease genes for rare Mendelian disorders and its secondary purpose include diagnosing people with rare genetic disorders that have not been previously diagnosed through conventional clinical means, learning more about the pathobiology of genetic disorders, and developing novel diagnostic technologies and analytics. 500 participants with undiagnosed and suspected genetic disorders will be recruited.
The main objective of this study is to apply a well-established model of developmental surveillance (which evolved to characterize the outcomes of very low birth weight infants) to infants with genetic disorders. A novel clinical model for infants with rare genetic disorders has been created as a joint initiative between the Division of Newborn Medicine's NICU Growth and Developmental Support Programs (NICU GraDS) program and the Division of Genetics at Boston Children's Hospital (BCH). This study plans to enroll patients with genetic syndromes seen in this clinic into a prospective, longitudinal study in order to characterize their developmental profiles and needs.
Background: \- The immune system helps the body fight infection and disease. People with immune system problems can get infections, blood disorders, and other health problems. Researchers want to learn more about the immune system, like what causes it to not work properly. Objectives: \- To evaluate people with certain types of immune system disorders. Eligibility: \- Adults and children with an immune disorder or symptoms of one, and their relatives. Some disorders are not included in this study. Design: * Researchers will review participants medical records. * Participants may mail in a blood or saliva sample, or be evaluated at the clinic. At the clinic, they may have a medical history, physical exam, blood tests, and imaging scans (with dye given through a needle in the arm). They may have genetic testing done on a sample of blood, saliva, hair, or nail clipping. * Participants may choose to have a skin biopsy. Up to 2 skin samples will be taken from their arm, back, or other area. A biopsy punch is inserted into the skin and rotated. A small circle of skin is removed. * Participants 10 and older may also choose to have leukapheresis. Blood is taken through a needle in one arm. It passes through a machine that separates the white blood cells. The rest of the blood is returned by needle in the other arm. * Researchers may recommend medicines, but no treatments are being studied. * Participants may be invited to return for visits over several years. At those visits, they may repeat some or all of the above tests. Or they may mail in blood or other samples. They may also send medical records.
This study will determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights infections. Normally, the body keeps a precise balance in which lymphocyte growth is matched by lymphocyte death. People with constantly enlarged lymph nodes or spleen, along with autoimmune disease, immunodeficiency, lymphoma, or other immune problems affecting lymphocytes may have an abnormality of the immune system in the cell growth and cell death processes that regulate lymphocyte homeostasis. Patients who have, or are suspected of having, an inherited lymphocyte homeostasis or programmed cell death susceptibility syndrome may be eligible for this study. Relatives of patients are also included. Participants' (patients and relatives) medical records are reviewed and blood samples are drawn for studies to identify genes involved in immune disorders. Tissues that have been removed from patients for medical reasons, such as biopsied tissues, may be examined for tissue and DNA studies. Relatives are studied to determine if some of them may have a very mild form of lymphocyte homeostasis disorder. Patients who have an immune problem that the researchers wish to study further will be invited to donate additional blood samples at irregular intervals (at least once a year) and to provide an update of their medical records at the same time. ...
The purpose of this study is to find out more about STXBP1 and SYNGAP1 related disorders. The information gathered by this study will be used to prepare for clinical treatment trials. The primary objective of the study is to better define and outline the clinical spectrum of STXBP1 and SYNGAP1 through detailed developmental, seizure, and quality of life assessments as an extension of routine clinical care.
The goal of this study is to learn how genomic sequencing technology can be used to effectively expand the conditions screened on newborn screening. Newborn screening ensures equity and allows all babies to have the same chance at the healthiest life. Families will be invited to have their newborn baby screened for additional conditions beyond what all babies are screened for as part of the newborn screening public health program. Families can choose to be part of the study or choose not to be part of the study and just have the routine newborn screening test. Families will also be able to choose to learn about their baby's risk for conditions that have effective treatments available but are not on the routine newborn screening panel or also learn about conditions for which there is not currently FDA approved medications but for which medications are under development or for which early intervention services or treatment of seizures may improve the child's outcome. Families will be invited to the study shortly after the baby is born and will learn the decision not to participate, and we will interview a subset of parents who agree to be interviewed. Newborns who screen positive will be referred to appropriate providers for care and will be followed through review of electronic medical records and parental follow up via phone, text, postal mail or email.