Clinical trials: Genetic Diseases
Myotonic Dystrophy Type 1 (DM1)
A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type I
The purpose of the study is to evaluate the long-term safety and tolerability, efficacy and pharmacokinetics of VX-670 in participants with Myotonic Dystrophy Type I (DM1).
- Trial name
- NCT06926621
- Testing
- VX-670
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Familial Mediterranean Fever (FMF), Autoinflammation
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.
- Conditions
- Familial Mediterranean Fever (FMF), Autoinflammation, Periodic Fever, Fever
- Trial name
- NCT00001373
- Where
- 5 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cockayne Syndrome, Skin Neoplasms
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility.
- Conditions
- Cockayne Syndrome, Skin Neoplasms, Xeroderma Pigmentosum, Trichothiodystrophy Syndromes
- Trial name
- NCT00001813
- Where
- United States
- Volunteers
- 709 people
- Sponsor
- National Cancer Institute (NCI)
Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease
Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
This study evaluates the efficacy of rifampin in the treatment of hypercalcemia and/or hypercalciuria in participants with at least one inactivating mutation of the CYP24A1 gene.
- Conditions
- Idiopathic Infantile Hypercalcaemia - Severe Form, Genetic Disease, Hypercalcemia, Idiopathic, of Infancy, Hypercalciuric Hypercalcemia
- Trial name
- RICHH (NCT03301038)
- Testing
- Rifampin
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Philadelphia
Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)
A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping
- Conditions
- Muscular Dystrophies, Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy), Muscular Disorders, Atrophic, Muscular Disease
- Trial name
- SAFARI44 (NCT07587242)
- Testing
- AOC 1044
- Where
- 18 sites in Australia, Belgium and 6 more
- Volunteers
- 70 people
- Sponsor
- Avidity Biosciences, Inc.
Hypertension, Atherosclerotic Cardiovascular Disease
Polygenic Risk Score Implementation and Stratification for Managing Blood Pressure
In a multi-ethnic population, a genome-wide polygenic risk score (PRS) for systolic blood pressure (SBP), incorporating over one million common genetic variants, predicts blood pressure (BP) traits and the risk of adverse…
- Trial name
- PRISM-BP (NCT06962488)
- Testing
- Regular Care, SBP PRS Dissemination
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- University of Alabama at Birmingham
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.
Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2)
Long Term Extension Study in Patients With Primary Hyperoxaluria
The proposed study is designed to provide patients previously enrolled in Phase 1 and 2 studies of DCR-PHXC and their siblings (<18 years old) long-term access to DCR-PHXC, and to evaluate the long-term safety and efficacy of…
- Conditions
- Primary Hyperoxaluria Type 1 (PH1), Primary Hyperoxaluria Type 2 (PH2), Kidney Diseases, Urologic Diseases
- Trial name
- PHYOX3 (NCT04042402)
- Testing
- DCR-PHXC
- Where
- 23 sites in United States, Australia and 11 more
- Volunteers
- 75 people
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Alpha1-Antitrypsin Deficiency
A Study to Evaluate Safety, Tolerability and Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Participants With Alpha1-Antitrypsin Deficiency
The purpose of this study is to evaluate the safety and tolerability of 72 milligrams per kilogram (mg/kg) and 180 mg/kg Alpha-1 15%, administered as a single-dose subcutaneous (SC) infusion and subsequently as weekly SC…
- Trial name
- NCT04722887
- Testing
- Alpha-1 15%, Liquid Alpha1-Proteinase Inhibitor (Human)
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Grifols Therapeutics LLC
Genetic Predisposition to Disease, Breathing, Mouth
Expression of Genes Relating Hypertension and Efficacy of 4-7-8 Breathing Control on Reducing Blood Pressure
This study consists of two sub-studies. Study 1 investigates gene expression related to the development of hypertension in Thailand, and Study 2 examines the effectiveness of the 4-7-8 breathing technique in reducing blood…
- Trial name
- NCT07018128
- Testing
- Study 2: deep breathing, Study 2: 4-7-8 breathing, Study 2: slow breathing with device
- Where
- Thailand
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Burapha University
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
Haemophilia
Determinants and Consequences of the Transition to Adulthood for Adolescents With Severe Haemophilia: TRANSHEMO 2, an Ancillary Study to the TRANSHEMO Project
Haemophilia is a rare genetic disorder which, in its severe form and in the absence of treatment, can be life-threatening. Since the 1960s and the introduction of coagulation factor concentrates, the life expectancy of people…
- Trial name
- TRANSHEMO2 (NCT07418827)
- Testing
- questionnaires
- Where
- 25 sites in France
- Volunteers
- 75 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
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
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