View clinical trials related to Genetic Diseases, Inborn.
Filter by:This trial is conducted in Asia. The aim of the trial is to investigate the long-term efficacy and safety of two doses of NN-220 (somatropin) in short stature due to Noonan syndrome.
This study is conducting a randomized controlled trial (RCT) with up to 400 subjects (women & partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS). 1. The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions. 2. The investigators hypothesize that parents will act on the knowledge of their carrier status by making different reproductive choices than parents who do not receive this information. 3. The investigators hypothesize that the psychosocial risks are increased among parents who receive expanded carrier screening using Next Generation Sequencing (NGS) compared with usual care.
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.
This trial is conducted in Europe. The aim of this trial is to obtain the PTPN11 mutation status and investigate the impact of the PTPN11 mutation status on the effect of somatropin (Norditropin®) by use of data obtained in the GHNOO-1658 trial.
Background: - Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems. People with MC4R mutations may have problems with attention. These problems may be related to Brain-Derived Neurotrophic Factor (BDNF), a protein that is important for brain development. Researchers want to study people with PWS and MC4R mutations to see how BDNF is involved in these conditions. Specifically, body weight and brain function will be studied, and compared with healthy volunteers. Objectives: - To study how BDNF affects body weight and brain function in people with PWS and MC4R mutations. Eligibility: - Individuals of any age who have Prader-Willi syndrome or MC4R genetic mutations. - Healthy volunteers of any age to act as control participants. Design: - Participants will be screened with a medical history and physical exam. Height, weight, and waist/hip circumferences will be measured. Blood samples will be taken for genetic and other tests. - Participants will fill out questionnaires about eating habits, pain perception, and sleep behavior. - Participants will keep a 3-day food diary to record all food and drinks eaten. - Tests and questionnaires will be given to study thinking, speech, movement, behavior, and mood. Some tests will be done on a computer; other tests will be on paper. Tests may also involve performing tasks with blocks and other objects. - Participants may have other tests as directed. These will include hot and cold sensitivity tests, imaging studies like x-rays, and measurements of body fat and water content. - Treatment will not be provided as part of this study.
The present trial is a randomized, placebo-controlled study evaluating 3 different doses of PXT3003 in patients with CMT1A disease.
This is a Prospective Phase II Study to evaluate Cord Blood Transplantation in Inherited or Acquired Severe Aplastic Anemia Refractory or in Relapse after Immunosuppressive Therapy in the absence of an HLA identical donor;
Background: - Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations. Objectives: - To understand more about what causes congenital malformations that arise in early human development. - To learn if genetic causes can be found to explain why a person has a congenital malformation. Eligibility: - Individuals who have been diagnosed with a congenital malformation. Design: - Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history. - Parents or siblings of participants may also be asked to provide information for research purposes. - Participants may have additional medical evaluations as part of this study, including any of the following tests: - Physical examinations - Other consultations as clinically indicated - Blood samples for genetic testing - Tissue biopsy for genetic testing - Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet. - Other tests as indicated by a specific malformation, such as organ ultrasounds. - No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent....
This observational study is conducted globally. The aim of the study is to investigate the effectiveness and safety of real-life treatment with Norditropin®. The study population will consist of children and adults who are on treatment with Norditropin® in accordance with normal clinical practice.
Hereditary angioedema ("HAE") is a disease characterized by recurrent tissue swelling affecting various body locations. Recent literature shows that patients with frequent attacks may benefit from long-term prophylaxis. This study aims to evaluate the safety and prophylactic effect of weekly administrations of 50 IU/kg recombinant C1 Inhibitor ("rhC1INH").