Clinical trials: Genetics Disease
Ehlers-Danlos Syndromes (EDS)
CLINICAL AND BIOLOGICAL DATABASE OF PATIENTS WITH NON-VASCULAR EHLERS-DANLOS SYNDROMES
The Rare Disease Reference Center (CRMR) for Non-Vascular Ehlers-Danlos Syndromes (NV-EDS) at the Raymond Poincaré University Hospital provides diagnosis and care for patients with non-vascular Ehlers-Danlos syndrome.
- Trial name
- BASE SED-NV (NCT07899489)
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Ehlers-Danlos Syndromes (EDS)
Evaluation of the Role of Serum Tenascin-X Levels in the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
Thirteen types of EDS have been described based on their clinical manifestations and genetic backgrounds. Their diagnosis relies on personal and family medical history, together with established clinical criteria.
- Trial name
- DIAGNOSEDh (NCT07899554)
- Testing
- Blood sampling
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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)
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)
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)
Eczema, Dermatitis
Effects of Treatments on Atopic Dermatitis
Background: Atopic dermatitis, or eczema, is a chronic skin disorder. Patients sometimes have infections with S. aureus bacteria.
- Conditions
- Eczema, Dermatitis, Skin Diseases, Genetic, Dermatitis, Atopic
- Trial name
- NCT01631617
- Testing
- Trimethoprim/sulfamethoxazole (TMP/SMZ), Cephalexin, Doxycycline
- Where
- United States
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Sickle Cell, Diabetes
Developing the Family Map: Looking at Communal Coping
Background: Knowing one s family medical history is a part of staying healthy. Some health risks run in families, and knowing these risks can promote more healthy behavior.
- Conditions
- Sickle Cell, Diabetes, Cancer, Cardiovascular Disease
- Trial name
- NCT01633021
- Where
- 3 sites in United States
- Volunteers
- 1,061 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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 Disorder
Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
Background: Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems.
- Trial name
- NCT01851447
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Genetic Disease, Genomics
Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
Background: People with sickle cell disease and other blood disorders sometimes get chronic leg ulcers. These are wounds that develop on the skin and don t go away.
- Trial name
- NCT02156102
- Where
- 3 sites in United States, Sierra Leone
- Volunteers
- 405 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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)
Vascular Dysfunction, Genetic Mutations
Vascular Disease Discovery Protocol
Background: Some genetic diseases put increase the risk of heart and blood diseases, which are the number one cause of death and disability in the U.S. Researchers want to study diseases of the heart and/or blood vessels.
- Conditions
- Vascular Dysfunction, Genetic Mutations, Genetic Predisposition
- Trial name
- NCT03538639
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Prostate Cancer
Precision-Based Genomics in Prostate Cancer
Background: Prostate cancer is the most common cancer and the second leading cause of death in males in the United States. Researchers want to find additional gene mutations that may increase a man s risk for prostate cancer and…
- Trial name
- NCT04706663
- Where
- 11 sites in United States
- Volunteers
- 2,000 people
- Sponsor
- National Cancer Institute (NCI)
Achondroplasia
Extension Study of Infigratinib in Children With Achondroplasia (ACH)
This is a Phase 2, multicenter, open-label, extension (OLE) study to evaluate the long-term safety, tolerability, and efficacy of infigratinib, an FGFR 1-3-selective tyrosine kinase inhibitor, in participants with ACH who…
- Trial name
- NCT05145010
- Testing
- Infigratinib
- Where
- 31 sites in United States, Argentina and 8 more
- Volunteers
- 325 people
- Sponsor
- QED Therapeutics, a BridgeBio company
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
- 3 sites in United States, Denmark and 1 more
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
Alpha 1 Antitrypsin Deficiency
A Non-inferiority Pharmacokinetic and Safety/Tolerability Study of Two Different Doses of Weekly SC Alpha1-PI 15% Compared With Corresponding Standard IV Alpha1-PI in Participants With Alpha1-Antitrypsin Deficiency (AATD)
This study is designed to compare two different weekly doses of a medicine called Alpha1-Proteinase Inhibitor given by injection under the skin with the standard doses of the same medicine given through a vein.
- Trial name
- SWIFT-SC (NCT07555483)
- Testing
- Alpha-1 15%, Liquid Alpha1-PI
- Where
- 22 sites in United States, Denmark and 7 more
- Volunteers
- 40 people
- Sponsor
- Grifols Therapeutics LLC
Heterozygous Familial Hypercholesterolemia (HeFH)
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
A phase 1/2, two-part trial consisting of an open label dose-escalation part and a randomized, double blind, placebo-controlled part to investigate safety, tolerability, pharmacokinetics, and efficacy with EDIT-401 gene editing…
- Trial name
- NCT07894887
- Testing
- Drug: EDIT-401
- Where
- 2 sites in Australia
- Volunteers
- 56 people
- Sponsor
- Editas Medicine, Inc.
Alpha 1 Antitrypsin Deficiency
A Study of AIR-001 in Adults With Alpha-1 Antitrypsin Deficiency (AATD)
This is a Phase 1, open-label, single ascending dose (SAD) and multiple dose (MD) study of AIR-001 in participants with alpha-1 antitrypsin deficiency (AATD) due to PiZZ genotype.
- Trial name
- RepAIR1 (NCT07431112)
- Testing
- AIR-001 SAD dose level 1, AIR-001 SAD dose level 2, AIR-001 SAD dose level 3
- Where
- 13 sites in Australia, Georgia and 7 more
- Volunteers
- 54 people
- Sponsor
- AIRNA Corporation
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
Atopic Dermatitis
A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to Severe Eczema
The purpose of this study is to find out how well tilrekimig works, how safe it is, and how it affects the body in adults and adolescents with moderate to severe atopic dermatitis (eczema).
- Trial name
- Tilrek (NCT07783425)
- Testing
- Tilrekimig, Dupilumab
- Where
- 32 sites in United States, Japan
- Volunteers
- 1,375 people
- Sponsor
- Pfizer