Displaying 1 - 10 of 10 for Genetic and Rare Diseases - Treatment
- ACDMPV Study (H-8712)
- Molecular Genetics of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins - The purpose of this study is to investigate the role of lncRNAs in a long range regulation of FOXF1 expression.
- Carnitine Production in Children With Autism Spectrum Disorder (H-29348)
- The purpose of this study is to test the idea that carnitine deficiency in the brain is a risk factor for autism that is not associated with birth defects or unusual facial features.
- CFC Syndrome Study (H-34741)
- We are recruiting patients with cardiofaciocutaneous (CFC) syndrome in order to assess growth parameters.
- Dose-Escalation Study of BMN 111 in Children With Achondroplasia (H-32682)
- The primary objective of the initial 6-month phase is to evaluate the safety and tolerability of daily SC injections of BMN 111 administered for six months.
- Mitochondrial Myopathy (H-37237)
- The purpose of this study is to test the drug RTA 408 as an effective treatment for mitochondrial myopathy.
- Osteogenesis Imperfecta (H-36030)
- The purpose of the study is to determine whether treatment with Denosumab is safe and effective in children with osteogenesis imperfecta.
- Phenylbutyrate Therapy for Maple Syrup Urine Disease (H-28463)
- The purpose of this study is to investigate the efficacy of sodium phenylbutyrate in the treatment of patients with maple syrup urine disease.
- Tasimelteon Study (H-38520)
- This study is designed to see whether the investigational medication is effective in improving nighttime sleep in adult individuals with Smith-Magenis Syndrome (SMS).
- Umbilical Cord Blood Transplant for Congenital Pediatric Disorders (UCB) (H-25064)
- The purpose of this study is to determine the safety and effectiveness of umbilical cord blood transplant (UCBT) to treat the patient's disease, and to see if this treatment can decrease the incidence of GVHD.
- Understanding the Molecular Causes of Neuropsychiatric Disease (H-34578)
- The purpose of this study is to better understand the molecular mechanisms underlying intellectual disability, developmental delay, aggressive behavior, seizures, autism and other neuropsychiatric disorders.