Clinical trials: Genetic Mutation
Female Genital Mutilation Type I Status, Female Genital Mutilation Type II Status
Knowledge and Perspective of Healthcare Professionals About Female Genital Mutation
Each year over three million girls are at risk of being subjected to female genital mutilation (FGM) in several African countries.
- Conditions
- Female Genital Mutilation Type I Status, Female Genital Mutilation Type II Status, Female Genital Mutilation Type III Status
- Trial name
- FMG-HCPROF (NCT04936386)
- Testing
- Survey
- Where
- Italy
- Volunteers
- 450 people, healthy volunteers welcome
- Sponsor
- Piazza della Vittoria 14 Studio Medico - Ginecologia e Ostetricia
Gaucher Disease, Type 1, Healthy
Prodromal Parkinsonian Features in GBA1 Mutation Carriers
Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that…
- Trial name
- NCT05253560
- Testing
- The investigators aim to identify prodromal PD in a cohort of carriers of Gaucher disease.
- Where
- Israel
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor
International PPB/DICER1 Registry
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence.
- Conditions
- Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor, DICER1 Syndrome, Cystic Nephroma
- Trial name
- NCT03382158
- Where
- United States
- Volunteers
- 3,400 people, healthy volunteers welcome
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Prostate Cancer, Genetic Predisposition to Disease
Prophylactic Prostatectomy for Prostate Cancer (PPPC)
Prostate cancer affects 1-in-8 people assigned male at birth in the UK and kills almost 12,000 annually. Half the cases occur due to genetic factors.
- Conditions
- Prostate Cancer, Genetic Predisposition to Disease, BRCA Mutation
- Trial name
- PPPC (NCT06470685)
- Testing
- Qualitative Research Interviews
- Where
- United Kingdom
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
Cancer
Clinical Validation of the Role of microRNA Binding Site Mutations in Cancer Risk, Prevention and Treatment
The investigators will recruit and enroll individuals that may have the KRAS-variant or other microRNA binding site mutations to join registry studies.
- Trial name
- NCT02253251
- Testing
- KRAS-variant and microRNA binding site mutation testing
- Where
- United States
- Volunteers
- 15,000 people, healthy volunteers welcome
- Sponsor
- MiraKind
Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR)
AYLo - AutoimmunitY and Loss of y
The AYLo study (AutoimmunitY and Loss of y - Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases) aims to systematically investigate hematopoietic…
- Conditions
- Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR), ANCA Associated Vasculitis (AAV), Idiopathic Inflammatory Myopathies
- Trial name
- AYLo (NCT06696027)
- Testing
- Single nucleotide polymorphisms (SNP), 3'mRNA sequencing, Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array
- Where
- Germany
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Bonn
Breast Carcinoma, Deleterious CDH1 Gene Mutation
Factors Influencing Cascade Testing Among Women With Hereditary Gynecological Cancers and Their Relatives
This trial collects information about factors that affect communication of genetic test results, decision-making, and access to genetic testing in women with hereditary gynecological cancers.
- Conditions
- Breast Carcinoma, Deleterious CDH1 Gene Mutation, Deleterious DICER1 Gene Mutation, Deleterious SMARCA4 Gene Mutation
- Trial name
- NCT04257045
- Testing
- Interview, Questionnaire Administration, Survey Administration
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn How BAY2927088 is Taken up and Handled by the Body in Healthy Male Participants
Researchers are looking for a better way to treat men who have advanced non-small cell lung cancer (NSCLC). NSCLC is a group of lung cancers that have spread to nearby tissues or to other parts of the body.
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06221475
- Testing
- BAY2927088 coated tablet 10 mg, [14C]-BAY2927088 solution for infusion, [14C]-BAY2927088 oral solution
- Where
- Netherlands
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Bayer
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adult Subjects
Phase 1 Multiple Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03309605
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
Epidermolysis Bullosa
Topical Gentamicin Nonsense Suppression Therapy of EB
The overall purpose of this study is to address whether topical gentamicin therapy is an effective and feasible treatment. Specifically, we will investigate the effect of non-intensive treatment (once daily or every other day) on…
- Trial name
- GENTELBULL (NCT04644627)
- Testing
- Gentamicin Sulfate
- Where
- Norway
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Oslo University Hospital
BRCA1 Mutation, BRCA2 Mutation
BRCA Founder OutReach (BFOR) Study
The purpose of this study is to learn how to provide BRCA gene testing to a larger number of people as well as to make testing part of a person's regular medical care.
- Trial name
- BFOR (NCT03351803)
- Testing
- BFOR Digital Health solution/Web Portal
- Where
- 5 sites in United States
- Volunteers
- 5,412 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center