유전 질환 환자를 대상으로 AAV5-hRKp.RPGR 중간 용량의 치료 효과를 살펴보는 시험입니다.

Bilateral, subretinal administration of AAV5-hRKp.RPGR - deferred treatment group

Genetic: AAV5-hRKp.RPGR Intermediate Dose

Genetic: AAV5-hRKp.RPGR Low Dose

유전학: AAV5-hRKp.RPGR 중간 용량

유전학: AAV5-hRKp.RPGR 저용량

RPGR 유전자 변이와 관련된 X-염색체 연관 망막색소변성증 치료를 위한 후속 유전자 치료 임상시험

Participants will undergo germline genomic sequencing as part of consenting to the WU-PE-CGS program.

Participants will be given the option to receive the results from the genomic sequencing. After they consent to the study, the types of results available to them will be explained by research staff. Participants will be able to choose to receive: (1) no results, or any combination of (2) biomarker information from cancer cells, (3) inherited mutations related to cancer, and (4) inherited mutations related to other medical issues. These choices will be presented to them via a discussion with study staff with accompanying paper information

Participants will receive a novel return of results report that is tailored to their choices.

Return of Genetic Results: Biomarker information from cancer cells

Return of Genetic Results: Inherited mutations related to cancer

Return of Genetic Results: Inherited mutations related to other medical issues

Graham Colditz, M.D., DrPH, MPH

Bettina Drake, Ph.D., MPH

Li Ding, Ph.D.

Bettina Drake, Ph.D.

Ryan Fields, M.D.

Yin Cao, ScD, MPH

Feng Chen, Ph.D.

Patricia Dickson, M.D.

Eric Duncavage, M.D.

Mark Fiala, MSW

Aimee James, Ph.D., MPH

Reyka Jayasinge, Ph.D.

Kian-Huat Lim, M.D., Ph.D.

Erin Linnenbringer, Ph.D., MS

Jessica Mozersky, Ph.D.

Mary Politi, Ph.D.

David Spencer, M.D., Ph.D.

Tunji Toriola, M.D., Ph.D., MPH

Ravi Vij, M.D., MBA

Mark Watson, M.D., Ph.D.

Fei Wan, Ph.D.

Mike Wendl, DSC, MS, PHS

Matthew Wyczalkowski, Ph.D.

Stephanie Solomon Cargill, Ph.D., MSPH

This study aims to identify inherited genetic variants and somatic mutations associated with the progression of advanced Metabolic Dysfunction-Associated Steatotic Liver Disease MASLD.The research utilizes two distinct and extensively characterized cohorts for Whole-Genome Sequencing WGS analysis:

* MASLD Cohort: Consists of 800 patients whose peripheral blood will undergo WGS at 20x coverage.
* Metabolic Controls} Cohort: Comprises 2000 individuals matched for sex and metabolic risk factors who meet at least two criteria for metabolic syndrome but are free of MASLD. Their peripheral blood DNA will also be sequenced.

The focusing is the attention on the genetic and somatic variants involved in its progression toward advanced fibrosis and hepatocellular carcinoma. Through Whole-Genome Sequencing WGS of 800 patients with advanced MASLD, 80 liver tissue samples, and 2000 controls, the study aims to:

* Identify rare and structural genetic variants associated with the disease
* Analyze the role of clonal hematopoiesis of indeterminate potential CHIP in MASLD progression.
* Develop polygenic risk scores to improve risk stratification.

genetic and somatic variants involved in its progression toward advanced fibrosis and hepatocellular carcinoma

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Luca Vittorio Carlo Valenti, Doctor

RPGR 유전자 변이와 관련된 X-염색체 연관 망막색소변성증 치료를 위한 후속 유전자 치료 임상시험

유전자 검사 결과 반환: 암세포의 바이오마커 정보, 유전자 검사 결과 반환: 암과 관련된 유전적 돌연변이, 유전자 검사 결과 반환: 기타 의학적 문제와 관련된 유전적 돌연변이

진행성 섬유증 및 간세포암으로의 진행에 관여하는 유전적 및 체세포적 변이