Clinical trials: Genetics
CIC-Rearranged Sarcoma, Metastatic Ewing Sarcoma
Testing a New Combination of Anti-cancer Drugs in Patients Newly Diagnosed With Ewing Sarcoma Who Have Cancer That Has Spread to Other Parts of the Body
This phase II/III trial compares the effect of vincristine, irinotecan, and regorafenib (VIrR) in combination with vincristine, doxorubicin, cyclophosphamide (VDC), ifosfamide and etoposide (IE) to usual treatment with VDC/IE for…
- Conditions
- CIC-Rearranged Sarcoma, Metastatic Ewing Sarcoma, Metastatic High Grade Sarcoma, Metastatic Undifferentiated Round Cell Sarcoma
- Trial name
- NCT06820957
- Testing
- Biopsy Procedure, Biospecimen Collection, Bone Marrow Aspiration
- Where
- 8 sites in United States
- Volunteers
- 2 people
- Sponsor
- Children's Oncology Group
Symptomatic Genetic Dilated Cardiomyopathy
A Study of the Efficacy and Safety of Danicamtiv in Participants With Symptomatic Genetic and Familial Dilated Cardiomyopathy
The Sponsor is studying an investigational medication called danicamtiv to determine if it can help people with genetic and familial dilated cardiomyopathy (DCM).
- Trial name
- KINSHIP-DCM (NCT07210723)
- Testing
- danicamtiv
- Where
- 78 sites in United States, Belgium and 9 more
- Volunteers
- 332 people
- Sponsor
- Kardigan, Inc.
Genetic Predisposition to Disease, Healthy Volunteer
Effects of Sirolimus on Asymptomatic ApoE4 Carriers
Alzheimer's disease is a devastating neurodegenerative disease characterized by accumulation of clumps (also called plaques) and bundles of fibers (also called tangles) in the brain, for which there is currently no cure.
- Conditions
- Genetic Predisposition to Disease, Healthy Volunteer, APOE-4 Positive
- Trial name
- NCT07728175
- Testing
- Sirolimus (rapamycin)
- Where
- United States
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
Hematologic Disease and Disorders, Malignancies
Outcome of HSCT in Children at Ramathibodi Hospital
Firstly, to study the treatment outcomes of hematopoietic stem cell transplantation (HSCT) in patients with hematologic diseases, cancers, and other conditions treated at the Department of Pediatrics, Faculty of Medicine…
- Conditions
- Hematologic Disease and Disorders, Malignancies, Genetic Diseases
- Trial name
- NCT07857746
- Where
- Thailand
- Volunteers
- 200 people
- Sponsor
- Mahidol University
Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child)
Inherited Diseases, Caregiving, and Social Networks
Approximately 66 million informal caregivers care for someone who is ill, disabled, or aged. These caregivers experience significant distress associated with caregiving, which may be particularly salient in the context of…
- Conditions
- Undiagnosed Disease, Healthy Volunteer (Adult With Typically Developing Child), Inherited Neurodegenerative Disorders, Inherited Metabolic Disorders (Inborn Errors of Metabolism)
- Trial name
- NCT01498263
- Where
- 2 sites in United States
- Volunteers
- 682 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Genetic Disorder, Asperger Disorder
Pediatric Patients With Metabolic or Other Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies.
- Conditions
- Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- NCT02769949
- Where
- United States
- Volunteers
- 96 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Coronary Artery Disease, Atrial Fibrillation
The Genomic Medicine at VA Study
This trial will determine the clinical effectiveness of polygenic risk score testing among patients at high genetic risk for at least one of six diseases (coronary artery disease, atrial fibrillation, type 2 diabetes mellitus…
- Conditions
- Coronary Artery Disease, Atrial Fibrillation, Type 2 Diabetes, Colorectal Cancer
- Trial name
- GenoVA (NCT04331535)
- Testing
- Polygenic risk score (PRS)
- Where
- United States
- Volunteers
- 1,071 people
- Sponsor
- Boston VA Research Institute, Inc.
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Genetic Disease, Cancer
Penn Medicine Biobank Return of Results Program
The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants.
- Conditions
- Genetic Disease, Cancer, Cardiovascular Diseases
- Trial name
- ROR (NCT06089954)
- Testing
- private web-portal eHealth disclosure of genetic results, eHealth education intervention (web or chatbot)
- Where
- United States
- Volunteers
- 2,500 people
- Sponsor
- Abramson Cancer Center at Penn Medicine
Genetics, Obesity
Inherited and Environmental Risks Acting on Body Weight
The goal of this research is to investigate genetic and environmental factors that contribute to obesity through brain inflammation.
- Trial name
- INTERACT (NCT07430852)
- Testing
- Diet modification
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Washington
Genetic
Turner Syndrome: Genetic Considerations
Background: Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome.
- Trial name
- NCT07502586
- Where
- United States
- Volunteers
- 500 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Symptomatic Genetic Dilated Cardiomyopathy (DCM)
A Study of the Long-term Safety and Efficacy of Danicamtiv in Adults With Symptomatic Genetic and Familial Dilated Cardiomyopathy
Danicamtiv is an investigational medication, which means it is still being studied and has not been approved. The purpose of this study is to learn how well danicamtiv works, how safe it is, how well people can take it when used…
- Trial name
- KINSHIP-OLE (NCT07771465)
- Testing
- Danicamtiv
- Where
- 78 sites in United States, Belgium and 9 more
- Volunteers
- 332 people
- Sponsor
- Kardigan, Inc.
Genetic Conditions, Genetic Disorders
RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.
The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone.
- Trial name
- NCT07787975
- Testing
- RNA sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of California, San Francisco
Undiagnosed Diseases, Genetic Diseases
The Mayo Clinic Rare and Undiagnosed Disease Hackathon
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.
- Conditions
- Undiagnosed Diseases, Genetic Diseases, Rare Diseases
- Trial name
- NCT07714161
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Mayo Clinic
Genetic and Inflammatory Polyneuropathies
Clinical, Electrophysiological and Genetic Characteristics of Hereditary and Inflammatory Polyneuropathies in France
To describe the clinical, electrophysiological, and genetic characteristics of patients with genetic and inflammatory polyneuropathies in France.
- Trial name
- POLYFRA (NCT07851844)
- Where
- 26 sites in France
- Volunteers
- 1,000 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia.
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Ornithine Carbamoyltransferase Deficiency (Disorder), Urea Cycle Disorders, Inborn
- Trial name
- NCT06255782
- Testing
- ECUR-506
- Where
- 12 sites in United States, Australia and 2 more
- Volunteers
- 20 people
- Sponsor
- iECURE, Inc.
Genetic Disease, Pediatrics
Clinical Decision Support to Identify Pediatric Patients With Undiagnosed Genetic Disease
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray.
- Conditions
- Genetic Disease, Pediatrics, Predictive Model, Clinical Decision Support
- Trial name
- SIGHT (NCT06744543)
- Testing
- SIGHT Prompted Provider Message
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Vanderbilt University Medical Center
Cancer, Genetics
TREC@TAMU Cancer Prevention Registry and Repository
This study collects health and genetic information to implement cancer prevention and treatment strategies.
- Conditions
- Cancer, Genetics, Disease, Diet
- Trial name
- NCT06826014
- Where
- United States
- Volunteers
- 2,500 people
- Sponsor
- Texas A&M University
Refractory Epilepsy, SYNGAP1 Encephalopathy
Fenfluramine for the Treatment of Different Types of Developmental and Epileptic Encephalopathies: a Pilot Trial Exploring Epileptic and Non-epileptic Outcomes
This study is a pilot non-controlled clinical trial with adjunctive fenfluramine for the treatment of five different types of developmental and epileptic encephalopathies (DEEs) focused on epileptic and "non-epileptic outcomes"…
- Conditions
- Refractory Epilepsy, SYNGAP1 Encephalopathy, STXBP1 Encephalopathy With Epilepsy, Inv Dup(15) Encephalopathy
- Trial name
- FENDEEP (NCT05232630)
- Testing
- Fenfluramine
- Where
- Spain
- Volunteers
- 20 people
- Sponsor
- Hospital Ruber Internacional
Hemophilia A
A Study to Evaluate Impact of Efanesoctocog Alfa on Long-term Joint Health in Participants With Hemophilia A in Taiwan
This is a national, multicenter, retrospective/prospective, observational study in Taiwan designed to assess effectiveness, safety, and usage of efanesoctocog alfa prophylaxis treatment in hemophilia A participants.
- Trial name
- PROTECT-ALT (NCT06684314)
- Testing
- Efanesoctocog alfa
- Where
- 10 sites in Taiwan
- Volunteers
- 79 people
- Sponsor
- Sanofi