Therapeutics for Rare and Neglected Diseases - Science

罕见病和被忽视疾病的治疗方法 - Science

• 批准号: 8752453
• 负责人: John McKew
• 金额: $ 2257.69万
• 依托单位: NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8752453
• 关键词: Academia; Adopted; Agreement; Area; Auranofin; Biological; Biotechnology; Businesses; Chemicals; Chronic Lymphocytic Leukemia; Clinical; Clinical Trials; Collaborations; Communities; Congenital herpes simplex; Core-Binding Factor; Cryptococcal Meningitis; Cyclodextrins; Data Quality; Defect; Development; Disease; Dose; Drug Formulations; Drug Kinetics; Duchenne muscular dystrophy; Evaluation; Failure; Fragile X Syndrome; Funding; Future; Genomics; Giardiasis; Goals; Government; Human; Hypoparathyroidism; Inclusion Bodies; Individual; Industry; Inherited; Institution; Investigational New Drug Application; Investments; LEOPARD Syndrome; Laboratories; Learning; Myopathy; Patients; Pharmaceutical Chemistry; Pharmaceutical Preparations; Pharmacodynamics; Pharmacologic Substance; Pilot Projects; Private Sector; Process; Public Sector; Pulmonary Alveolar Proteinosis; Rare Diseases; Request for Proposals; Resources; Retinitis Pigmentosa; Schedule; Schistosomiasis; Science; Scientist; Sickle Cell Anemia; Simplexvirus; Staging; Support System; Technology; Therapeutic; Therapeutics for Rare and Neglected Diseases; Toxicology; United States National Institutes of Health; Work; creatine transporter; drug development; improved; insight; interest; leukemia; meetings; neglect; new technology; novel; pre-clinical; programs; progressive myositis ossificans; research and development; research clinical testing; response; success; therapeutic development

Work continued on the TRND pilot projects, which were chosen to establish processes in advance of solicitation with a diversity of project stage, type of disease, and collaborators. The six pilot projects include: 1. Niemann-Pick C Disease, a rare disease 2. Hereditary Inclusion Body Myopathy, a rare disease 3. Giardiasis, a neglected disease (project completed) 4. Schistosomiasis, a neglected disease (project discontinued) 5. Sickle Cell Disease, a rare disease 6. Chronic Lymphocytic Leukemia, a rare disease In FY11, the first two TRND project solicitations were successfully launched. One hundred twenty-five proposals were received in response to these solicitations. These proposals came from industry, academia, government laboratories, and not-for-profit institutions. The proposals were reviewed by an external panel of experts. Ten projects were selected for collaboration, representing a diverse group of project types: 1. Duchenne Muscular Dystrophy, a rare disease (2 different projects; one discontinued) 2. Fragile X Syndrome, a rare disease (project discontinued) 3. Cryptococcal Meningitis, a neglected disease 4. CBF Leukemia, a rare disease 5. Neonatal Herpes Simplex Virus, a rare disease 6. Pulmonary Alveolar Proteinosis, a rare disease 7. Fibrodysplasia Ossificans Progressiva, a rare disease 8. Schistosomiasis, a neglected disease 9. Creatine Transporter Defect, a rare disease A third solicitation was launched during FY12, which received 75 applications from industry, academia, government laboratories, and not-for-profit institutions. After rigorous review, four projects were selected in FY13 for collaboration: 1. Retinitis Pigmentosa, a rare disease (2 different projects) 2. Hypoparathyroidism, a rare disease 3. LEOPARD Syndrome, a rare disease Within two years of initiation, four projects (Aes-103 for Sickle Cell Disease; Auranofin for Chronic Lymphocytic Leukemia; Cyclodextrin for Niemann-Pick Type C; and DEX-M74 for Hereditary Inclusion Body Myopathy) yielded successful IND applications to the FDA, and first in-human clinical trials are ongoing in all four. One pilot project (Giardiasis) has been discontinued after successful completion of project milestones, while another pilot project (Schistosomiasis) has been discontinued for failure to meet milestones. All other projects had collaborative and milestone agreements put in place, and are achieving interim milestones and progressing according to schedules. Two projects adopted in FY11 (Duchenne Muscular Dystrophy; Fragile X Syndrome) have been discontinued from the TRND portfolio. The Duchenne Muscular Dystrophy partner is now able to carry out future steps without further TRND support, and the project is progressing according to schedules. Fragile X Syndrome was discontinued due to realignment of the collaborators business strategy. The development of therapeutics for these rare or neglected indications has involved, and will continue to involve, resources in the following areas, performed and/or provided by TRND: 1. Medicinal Chemistry Optimization 2. Pharmacokinetics / Pharmacodynamics 3. Toxicology 4. Dosing 5. Formulation 6. Regulatory Support 7. Project Management In addition to meeting its project-specific goals, TRND has supported development of novel technologies and collaborative paradigms that improve the efficiency of the translational process. For example, two projects represent novel platform technologies that can be used to develop therapeutics to treat a variety of other human disorders. Operational work also continued in the following areas: 1. Holding meetings of the Trans-NIH Staff Advisory Group (TAG) to receive guidance and biological / disease area-specific insight during evaluation of solicited proposals. 2. Participating in numerous meetings with companies, academic scientists, and individuals from disease communities interested in learning about TRND. 3. Exploring potential partnerships with interested stakeholders in RNDs to seek opportunities to leverage TRND activities. 4. Crafting and finalizing a refined TRND Research & Development Request for Proposals through which future research will be funded. 5. Evaluating and refining the solicitation and associated support system to bring new projects into the TRND pipeline.

TRND试点项目的工作仍在继续，选择这些项目是为了在征求之前建立具有不同项目阶段、疾病类型和合作者的程序。六个试点项目包括：