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 多重硫酸酶缺乏症（MSD）是一种罕见的遗传，溶酶体储存障碍 SUMF1中的双重致病变异，导致17个硫酸酶的功能丧失， 其中许多是由单硫酸酶缺陷条件共享的。经常患有MSD的人 在童年时期，大多数身体系统的迅速下降，最多 通常受影响的系统，包括：神经，骨骼和整体。尽管很少见，但 威胁生命的代谢障碍同样影响所有性别，种族和种族。而 分子基础经过了很好的研究，MSD目前是一种不可治疗的疾病。我们的 这次会议和我们的其他努力的使命是改变这一点，为家庭提供希望和 最终确保对MSD患者进行救生治疗。 2017年，MSD行动基金会在都柏林举行了第一次MSD科学会议， 爱尔兰，基础科学家讨论了潜在的治疗选择。会议之后， 联合MSD基金会和MSD行动基金会共同资助了6项提案 刺激了许多新的研究计划1-7。当我们接近2020年底时，许多 资助的项目即将完成。由于有许多潜在的治疗选择 开发的是，该领域的专家是时候便利和讨论下一步了。 2021 多个硫酸盐缺乏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日在宾夕法尼亚州的费城举行。这 位置被选为费城儿童医院（CHOP）是领先的专家 MSD的孩子，看到世界上最多的患者，并作为一项重大研究 撰稿人，最近完成了MSD回顾性自然历史研究。主要重点 这次会议是为了确保准备进行基因疗法。专家 各自的领域将与MSD家族召集，以组织和充满活力的研究工作。 演讲者和与会者将介绍数据，讨论进度和挫折，进行研究 优先事项，并创建一个治疗路线图。学员和初级教师，特别是 代表性不足的少数群体将被授予出勤的目标，并鼓励提交 摘要。我们要求为此会议提供一年的资金，但是合作 研究人员，临床医生和家庭之间将继续努力，直到治疗或治愈 确定用于多种硫酸酶缺乏症。