The 2021 Multiple Sulfatase Deficiency Scientific and Family Meeting

2021 年多种硫酸酯酶缺乏症科学和家庭会议

• 批准号: 10318766
• 负责人: Rebecca Clare Ahrens-Nicklas
• 金额: $ 2.12万
• 依托单位: UNITED MSD FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-19 至 2022-08-18
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10318766
• 关键词: Address; Affect; Area; Aspartylglucosaminuria; Award; Biochemical; Child; Child Care; Childhood; Clinical; Collaborations; Communities; Consensus; Data; Development; Disease; Disease Progression; Doctor of Philosophy; Ensure; Enzymes; Ethnic Origin; Faculty; Family; Financial Support; Foundations; Funding; Gender; Gene therapy trial; Genetic; Genotype; Goals; Guidelines; Inborn Errors of Metabolism; Individual; International; Ireland; Knowledge; Life; Life Expectancy; Lighting; Location; Metabolic Diseases; Minority Groups; Mission; Molecular; Natural History; Nature; Organ; Pathogenicity; Patients; Pediatric Hospitals; Pennsylvania; Phenotype; Philadelphia; Race; Readiness; Research; Research Personnel; Research Priority; Research Support; Resources; Scientist; Sulfatases; System; Time; Translational Research; Travel; Underrepresented Minority; United States; Variant; Work; base; biobank; body system; effective therapy; experience; formylglycine; gene therapy; graduate student; innovation; interest; loss of function; meetings; patient registry; pediatrician; skeletal; symposium; therapy development; wasting

Project Abstract Multiple Sulfatase Deficiency (MSD) is a rare, genetic, lysosomal storage disorder caused by biallelic pathogenic variants in SUMF1 which results in the loss of function for 17 sulfatases, many of which are shared by single-sulfatase deficiency conditions. Individuals with MSD often present during childhood and experience rapid decline across most body systems with the most commonly affected systems including: nervous, skeletal, and integumentary. Although rare, this life-threatening metabolic disorder equally affects all genders, races, and ethnicities. While the molecular basis has been well researched, MSD is currently an untreatable disease. Our mission for this conference and our other endeavors is to change this, offer families hope and ultimately ensure there is a lifesaving treatment for patients with MSD. In 2017, the MSD Action Foundation, hosted the first MSD Scientific Conference in Dublin, Ireland, where basic scientists discussed potential treatment options. Following the conference, The United MSD Foundation and MSD Action Foundation jointly funded 6 resulting proposals which stimulated many new research programs1-7. As we approach the end of 2020, many of the funded projects are nearing completion. As many potential treatment options are being developed, it is time for experts in the field to convene and discuss the next steps. The 2021 Multiple Sulfatase Deficiency Scientific and Family Conference can address this need. Next year’s conference will be held on October 1st, 2021 in Philadelphia, Pennsylvania. This location was chosen as the Children’s Hospital of Philadelphia (CHOP) is the leading expert for children with MSD, seeing the most patients in the world, and serving as a major research contributor, recently completing the MSD retrospective natural history study. A primary focus of this conference is to ensure preparedness to move forward with gene therapy. Experts in their respective fields will convene with MSD families to organize and energize research efforts. Speakers and attendees will present data, discuss progress and setbacks, set research priorities, and create a roadmap for treatment. Trainees and junior faculty, particularly from under-represented minority groups, will be targeted for attendance and encouraged to submit abstracts. We are requesting one year of funding for this conference, but the collaboration efforts will continue between researchers, clinicians, and families until a treatment or cure is identified for Multiple Sulfatase Deficiency.

项目摘要 多种硫酸酯酶缺乏症 (MSD) 是一种罕见的遗传性溶酶体贮积症，由 SUMF1 中的双等位基因致病性变异导致 17 种硫酸酯酶功能丧失， 其中许多是单一硫酸酯酶缺乏症所共有的。患有 MSD 的人经常 存在于童年时期，并且大多数身体系统经历快速衰退 通常受影响的系统包括：神经、骨骼和外皮。虽然很少见，但这 危及生命的代谢紊乱同样影响所有性别、种族和民族。虽然 分子基础已得到充分研究，MSD目前是一种无法治愈的疾病。我们的 本次会议和我们其他努力的使命是改变这一现状，为家庭带来希望和 最终确保 MSD 患者获得挽救生命的治疗。 2017 年，默沙东行动基金会在都柏林主办了首届默沙东科学会议， 爱尔兰，基础科学家讨论了潜在的治疗方案。会议结束后， 联合默沙东基金会和默沙东行动基金会联合资助了 6 项最终提案 这激发了许多新的研究计划1-7。随着 2020 年底的临近，许多 受资助的项目已接近完成。由于许多潜在的治疗方案正在被研究 制定完毕后，现在是该领域专家召集并讨论下一步行动的时候了。 2021年 多种硫酸酯酶缺乏症科学和家庭会议可以满足这一需求。 明年的会议将于 2021 年 10 月 1 日在宾夕法尼亚州费城举行。这 之所以选择该地点，是因为费城儿童医院 (CHOP) 是该医院的领先专家。 患有 MSD 的儿童，是世界上看诊患者最多的人，并作为一项重大研究 贡献者，最近完成了默沙东回顾性自然历史研究。主要关注点是 这次会议的目的是确保为推进基因治疗做好准备。专家们在他们的 各个领域将与默沙东家族聚集在一起组织和激励研究工作。 演讲者和与会者将展示数据、讨论进展和挫折、进行研究 优先事项，并制定治疗路线图。实习生和初级教师，特别是来自 代表性不足的少数群体将成为出席的目标并鼓励他们提交 摘要。我们请求为本次会议提供一年的资金，但合作 研究人员、临床医生和家庭将继续努力，直到找到治疗或治愈方法 经鉴定患有多种硫酸酯酶缺乏症。