患者权益倡导、登记和临床试验招募：在罕见癌症领域哪些做法行之有效？.pdf

1、Patient Advocacy,Registry,and Trial Recruitment:What Has Worked in Rare CancersJoshua Mann,MPHDirector of HealthVHL Alliancejosh.mannvhl.orgThe VHL Alliance Founded in 1993 by patients and families affected by VHL.Our Mission:Improving quality of life and health outcomes for VHL patients,families,an

2、d caregivers with inclusive community building,connections to excellent education and treatment options,and advancements in medical research.Our Vision:Curing cancer through VHL research.Growth and Impact:We have evolved into the leading patient advocacy organization for VHL.We play a key role in ad

3、vancing VHL research and clinical care.We advocate for rare disease funding and policy to benefit our community.We are a small,but mighty,force multiplier in the cancer and rare disease space,especially as it pertains to VHL.Von Hippel-Lindau Disease(VHL)Rare Genetic Disorder:VHL is a rare,inherited

4、 disorder that causes tumors and cysts to grow in various parts of the body.Incidence of 1:36,000.Gene Mutation:It is caused by a mutation in the VHL gene,a tumor suppressor gene,with an autosomal dominant inheritance pattern.Tumor Locations:Tumors that can be benign or malignant can develop in the

5、brain,spinal cord,eyes,kidneys,pancreas,adrenal glands,and more.Early Detection is Key:Regular screening and early detection are crucial for managing the disease and preventing serious complications.MyVHL:Patient Natural History Studydatabank.vhl.org We recognized the critical need for comprehensive

6、 patient data in VHL.We launched MyVHL as a patient-consented natural history study(originally called the Cancer in Our Genes Project)Our aim:To collect long-term,real-world data on VHL progression Data Points We Collect:Demographics,genetic mutations,and clinical manifestations.