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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

基本信息

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
项目类别：
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

项目摘要

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