Rett Syndrome: Crossing the Threshold to Clinical Translation
| Autor: | Debashish U. Menon, Daniel C. Tarquinio, Benjamin D. Philpot, Steven J. Gray, David M. Katz, Monica Coenraads, Adrian Bird |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty media_common.quotation_subject Rett syndrome Article Epigenesis Genetic MECP2 Translational Research Biomedical 03 medical and health sciences 0302 clinical medicine Optimism Rett Syndrome medicine Animals Humans Psychiatry media_common Clinical Trials as Topic business.industry General Neuroscience medicine.disease Clinical trial 030104 developmental biology Clinical research Mutation business 030217 neurology & neurosurgery Natural history study |
| Zdroj: | Trends in Neurosciences. 39:100-113 |
| ISSN: | 0166-2236 |
| DOI: | 10.1016/j.tins.2015.12.008 |
| Popis: | Lying at the intersection between neurobiology and epigenetics, Rett syndrome (RTT) has garnered intense interest in recent years, not only from a broad range of academic scientists, but also from the pharmaceutical and biotechnology industries. In addition to the critical need for treatments for this devastating disorder, optimism for developing RTT treatments derives from a unique convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinical models, a strong clinical research infrastructure highlighted by an NIH-funded natural history study and well-established clinics with significant patient populations. Here, we review recent advances in understanding the biology of RTT, particularly promising preclinical findings, lessons from past clinical trials, and critical elements of trial design for rare disorders. |
| Databáze: | OpenAIRE |
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