Clinical trials: Gene Abnormality, open to volunteers
Rare Diseases, Genetic Disease
Structural Chromosome Rearrangements and Brain Disorders
The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations.
- Conditions
- Rare Diseases, Genetic Disease, Chromosome Abnormality
- Trial name
- NCT06072079
- Where
- Sweden
- Volunteers
- 10,000 people
- Sponsor
- Karolinska Institutet
Epilepsy; Seizure, Child Development
Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age
According to estimates by the World Health Organization in 2019, more than 50 million people around the world have epilepsy. Nearly 80% of patients with epilepsy live in developing countries.
- Conditions
- Epilepsy; Seizure, Child Development, Gene Abnormality, Early Onset Disorder
- Trial name
- NCT06278428
- Where
- 2 sites in Vietnam
- Volunteers
- 50 people
- Sponsor
- Number 2 Children's Hospital, Ho Chi Minh City
Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation
A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations
Recent studies have demonstrated that growth of vascular malformations can be driven by genetic variants in one of 2 signalling pathways.
- Conditions
- Slow-Flow Vascular Malformation, Fast-Flow Vascular Malformation, Vascular Malformations, Venous Malformation
- Trial name
- TARGET-VM (NCT05983159)
- Testing
- Alpelisib, Mirdametinib
- Where
- 2 sites in Australia
- Volunteers
- 50 people
- Sponsor
- Murdoch Childrens Research Institute
Infertility, Male, Gene Abnormality
Spermatogonial Differentiation Via Testicular Organoid
Purpose: This clinical trial aims to explore the potential for human sperm production in vitro by sustaining a laboratory-cultured adult testicular environment.
- Conditions
- Infertility, Male, Gene Abnormality, Sterility, Male
- Trial name
- SDTO (NCT06841861)
- Testing
- Stem cell, Genetic Screening, Genetic Reprogramming
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- CellARTs Inc.
Intellectual Disabilities, Congenital Anomaly
Genome Medical Sequencing for Gene Discovery
Background: A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown.
- Conditions
- Intellectual Disabilities, Congenital Anomaly, Rare Disorders
- Trial name
- NCT01087320
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Acute Lymphoid Leukemia, Minimal Residual Disease
Adult Acute Lymphoblastic Leukemia Treated With Pediatric Regimen in Brazil
In this project, the investigators intend to start a prospective registry for patients with newly diagnosed Philadelphia-negative ALL from 16 years old and above in participating centers, provided that all patients will be…
- Conditions
- Acute Lymphoid Leukemia, Minimal Residual Disease, Gene Abnormality, Chemotherapeutic Toxicity
- Trial name
- BRALLA (NCT05959720)
- Testing
- Prednisone, Vincristin, Daunorubicin
- Where
- Brazil
- Volunteers
- 180 people
- Sponsor
- Instituto do Cancer do Estado de São Paulo
Lymphoma, Gene Abnormality
Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma
Correlation Between Driver Gene Abnormalities and Clinicopathological Characteristics and Disease Prognosis in Lymphoma
- Trial name
- NCT04263935
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Henan Cancer Hospital
Non-Small Cell Lung Cancer
A Clinical Trial of TQB2102 for Injection in Non-small Cell Lung Cancer With HER2 Gene Abnormality
TQB2102 is an antibody-drug conjugate comprised of a humanised antibody against Human Epidermal Growth Factor Receptor 2 (HER2), a enzyme-cleavable linker, and a topoisomerase I inhibitor payload, which combine the ability of…
- Trial name
- NCT06496490
- Testing
- TQB2102 for injection, TQB2102 for injection combined with Benmelstobart injection
- Where
- 25 sites in China
- Volunteers
- 270 people
- Sponsor
- Chia Tai Tianqing Pharmaceutical Group Nanjing Shunxin Pharmaceutical Co., Ltd.
Lymphoma, Non-Hodgkin, Multiple Myeloma
TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer
The purpose of the study is to learn from the real world practice of prescribing targeted therapies to patients with advanced cancer whose tumor harbors a genomic variant known to be a drug target or to predict sensitivity to a…
- Conditions
- Lymphoma, Non-Hodgkin, Multiple Myeloma, Advanced Solid Tumors
- Trial name
- TAPUR (NCT02693535)
- Testing
- Sunitinib (CLOSED TO ENROLLMENT), Trastuzumab and Pertuzumab (CLOSED TO ENROLLMENT), Vemurafenib and Cobimetinib (CLOSED TO ENROLLMENT)
- Where
- 181 sites in United States, Puerto Rico
- Volunteers
- 4,200 people
- Sponsor
- American Society of Clinical Oncology
Breast Cancer, BRCA 1 Gene Mutation
A Prospective CohorT Study of HandX - Assisted ENdoscopic MAstectomy: Feasibility and Safety (ATHENA I Study)
This study aims to learn whether a handheld robotic device, called the HandX, can help surgeons safely perform a minimally invasive nipple-sparing mastectomy.
- Conditions
- Breast Cancer, BRCA 1 Gene Mutation, BRCA 2 Gene Mutation, Hereditary Breast Carcinoma
- Trial name
- ATHENA I (NCT07292246)
- Testing
- Endoscopic nipple sparing mastectomy, HandX endoscopic instrument
- Where
- Greece
- Volunteers
- 15 people
- Sponsor
- Vasileios Kalles
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Neutral Lipid Storage Disease
International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
This study aims to understand the state of onset of NLSD(neutral lipid storage disease) / TGCV(triglyceride deposit cardiovasculopathy) worldwide, background information of affected patients, and natural history of the disease…
- Trial name
- NCT02918032
- Where
- 15 sites in United States, Austria and 7 more
- Volunteers
- 120 people
- Sponsor
- Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Lung Cancer, Gene Abnormality
iCAGES-guided Precision Therapy for Cancers in Contrast to Standard Care or IHC-guided Theray
This study prospectively evaluates whether the use of iCAGES (integrated CAncer GEnome Score) tool in guiding the treatment of advanced cancers is superior to current standard care or IHC-guided therapy in progress free survival…
- Conditions
- Lung Cancer, Gene Abnormality, Gene Product Sequence Variation, Cancer
- Trial name
- NCT03192501
- Testing
- inhibitors, ADC drugs such as tarceva, capmatinib, padcev et al for A/C group.
- Where
- China
- Volunteers
- 250 people
- Sponsor
- Second Affiliated Hospital of Guangzhou Medical University
Hematologic Malignancy, Acute Leukemia
MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies
This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (TCR α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies.
- Conditions
- Hematologic Malignancy, Acute Leukemia, Remission, Acute Myeloid Leukemia
- Trial name
- NCT05735717
- Testing
- Fludarabine, Busulfan, Melphalan
- Where
- United States
- Volunteers
- 70 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Hereditary Corneal Dystrophy, Corneal Abnormality
Safety and Efficacy Study of GEB-101 Injection in Subjects With TGFBI-related Corneal Dystrophy
The goal of this clinical trial is to evaluate the safety and efficacy of GEB-101 injection in subjects with TGFBI-related Corneal Dystrophy
- Conditions
- Hereditary Corneal Dystrophy, Corneal Abnormality, Corneal Dystrophies, Corneal Dystrophies, Hereditary
- Trial name
- CLARITY (NCT07750678)
- Testing
- GEB-101 Injection
- Where
- 2 sites in United States, China
- Volunteers
- 30 people
- Sponsor
- GenEditBio Limited