Clinical trials: Gene Abnormality
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
Gene Abnormality, Meniscus Injury
Study on Susceptibility Genes of Anterior Cruciate Ligament, Patella Dislocation and Discoid Meniscus
Genomes of all sports medicine-related genes will be exome sequenced to find relevant gene mutations. To further study the molecular mechanisms and signaling pathways related to sports injury.
- Conditions
- Gene Abnormality, Meniscus Injury, Cruciate Ligament Rupture
- Trial name
- NCT04997538
- Where
- China
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Peking University Third Hospital
Heart Septal Defects, Ventricle, Heart Defects, Congenital
Genes Causing Ebstein's Anomaly
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease.
- Conditions
- Heart Septal Defects, Ventricle, Heart Defects, Congenital, Double Outlet Right Ventricle, Truncus Arteriosus, Persistent
- Trial name
- NCT00497705
- Where
- 3 sites in United States, Belarus and 1 more
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
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
Neonatal Seizure, Hypoxic-Ischemic Encephalopathy
Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy
The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of…
- Conditions
- Neonatal Seizure, Hypoxic-Ischemic Encephalopathy, Stroke, Intracranial Hemorrhage
- Trial name
- NSR-GENE (NCT05361070)
- Where
- 8 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of California, San Francisco
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
Gene Abnormality, Child Obesity
INDIcators for Clarifying the bAckground of exTreme Obesity in childRen
The study investigates the genetic backgrounds of extreme childhood obesity (using saliva sample) and contains short online questionnaires on family history, phenotypical characteristics and hunger behavior.
- Conditions
- Gene Abnormality, Child Obesity, Hunger
- Trial name
- INDICATOR (NCT06420622)
- Where
- Germany
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- University of Leipzig
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
Gene Abnormality, Acute Aortic Syndrome
Genetic Profile in Patients With Aortic Syndrome
The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques.
- Trial name
- GEN-AOR (NCT04751058)
- Testing
- genetic analysis
- Where
- 2 sites in Spain
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Hospitales Universitarios Virgen del Rocío
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
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
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