Displaying 1 - 9 of 9 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).
- 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.