Clinical trials: Genetic Diseases, Inborn
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)
Achondroplasia
Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia
This is a multicenter, multinational, randomized, active-controlled, operationally seamless Phase 2/3 study of BMN 333 in treatment-naïve pediatric participants with achondroplasia (ACH).
- Trial name
- ASPEN (NCT07441876)
- Testing
- BMN 333, Vosoritide Injection [Voxzogo]
- Where
- 28 sites in United States, Australia and 7 more
- Volunteers
- 160 people
- Sponsor
- BioMarin Pharmaceutical
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Primary Immune Deficiency
Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
This study will determine the biochemical and genetic causes of inherited immune diseases affecting lymphocyte homeostasis. Lymphocytes are a type of white blood cell that fights infections.
- Trial name
- NCT00246857
- Where
- 8 sites in United States, Turkey (Türkiye)
- Volunteers
- 5,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Neuropsychiatric Disorder, Neurological Disorder
Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
Background: Many psychiatric, behavioral, and developmental disorders are genetic. This means that they tend to run in families. Some begin in childhood, while others do not appear until adulthood.
- Conditions
- Neuropsychiatric Disorder, Neurological Disorder, Neurodevelopmental Disorder, Sleep
- Trial name
- NCT01778504
- Where
- United States
- Volunteers
- 237 people
- Sponsor
- National Institute of Mental Health (NIMH)
Genetic Disease
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown.
- Trial name
- NCT02450851
- Where
- 33 sites in United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Cardiomyopathies, Heart Diseases
PKP2-ACM Natural History Study
The goal of this study is to describe the natural history and clinical events for patients who have Arrhythmogenic Cardiomyopathy with Pathogenic Plakophilin-2 Variants (PKP2-ACM) managed with standard of care.
- Conditions
- Cardiomyopathies, Heart Diseases, Cardiovascular Diseases, Genetic Diseases
- Trial name
- NCT06644742
- Where
- 3 sites in United States, Netherlands
- Volunteers
- 36 people
- Sponsor
- Rocket Pharmaceuticals Inc.
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)
Eosinophilic Disease, Immune Deficiency
Screening Protocol for Genetic Diseases of Allergic Inflammation
Background: Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions.
- Conditions
- Eosinophilic Disease, Immune Deficiency, HaTS, Urticaria Anaphylaxis
- Trial name
- NCT00852943
- Where
- United States
- Volunteers
- 834 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Genetic Disorder, Infertility
Inherited Reproductive Disorders
Background: During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty.
- Conditions
- Genetic Disorder, Infertility, Hypogonadism, Amenorrhea
- Trial name
- NCT01500447
- Where
- 2 sites in United States
- Volunteers
- 850 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
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.
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
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.
Homozygous Familial Hypercholesterolemia
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to <18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and…
- Trial name
- SPRUCE (NCT07473843)
- Testing
- Zodasiran
- Where
- 2 sites in United States, Denmark
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
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
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)
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