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 多发性硫酸酯酶缺乏症（MSD）是一种罕见的，遗传性，溶酶体储存障碍引起的， SUMF 1中导致17种硫酸酯酶功能丧失的双等位基因致病性变体， 其中许多是单一硫酸酯酶缺乏病症所共有的。患有MSD的人经常 在儿童时期存在，并在大多数身体系统中经历快速下降， 通常影响的系统包括：神经、骨骼和皮肤。虽然罕见，但这 危及生命的代谢紊乱同样影响所有性别、种族和民族。而 分子基础已经得到很好的研究，但MSD目前是一种无法治愈的疾病。我们 本次会议和我们其他努力的使命是改变这种状况，为家庭提供希望， 最终确保有一个挽救生命的治疗与默沙东患者。 2017年，MSD行动基金会在都柏林举办了第一届MSD科学会议， 爱尔兰，那里的基础科学家讨论了潜在的治疗方案。会后， 联合MSD基金会和MSD行动基金会共同资助了6项由此产生的提案 这刺激了许多新的研究项目1 -7。随着2020年底的临近，许多 获资助的项目已接近完成。由于许多潜在的治疗方案正在 随着这一进程的发展，该领域的专家现在应该开会讨论今后的步骤。2021年 多重硫酸酯酶缺乏症科学和家庭会议可以解决这一需要。 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 地点被选为费城儿童医院（CHOP）是领先的专家， 患有MSD的儿童，看到世界上最多的患者，并作为一个主要的研究 贡献者，最近完成了默沙东回顾性自然史研究。的主要焦点 这次会议是为了确保做好准备推进基因治疗。专家们以 各个领域将与MSD家庭召开会议，组织和激励研究工作。 发言者和与会者将提出数据，讨论进展和挫折，设置研究 优先事项，并制定治疗路线图。学员和初级教师，特别是来自 代表性不足的少数群体，将有针对性的出席，并鼓励提交 摘要。我们要求为这次会议提供一年的资金， 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。 发现了多重硫酸酯酶缺乏症。