Clinical trials: Genetics, open to volunteers
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)
Granuloma, Granulomatous Disease, Chronic
Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
The research goal of this study is to obtain CD34+ hematopoietic stem cells (HSC) from peripheral blood and/or bone marrow, and Mononuclear Cells (lymphocytes and monocytes), and granulocytes (grans) from peripheral blood that…
- Conditions
- Granuloma, Granulomatous Disease, Chronic, Leukocyte Disease, Genetic Disease, X-Linked
- Trial name
- NCT00001405
- Where
- United States
- Volunteers
- 850 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)
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)
Genetic Eye Disease
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the…
- Trial name
- NCT02077894
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Eye Institute (NEI)
Genetic Eye Disease
Genetics of Inherited Eye Disease
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes.
- Trial name
- NCT02471287
- Where
- United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Pancreas Cancer, Pancreas Cyst
Pancreatic Cancer Early Detection Consortium
The purpose of the Pancreatic Cancer Early Detection (PRECEDE) Consortium is to conduct research on multiple aspects of early detection and prevention of pancreatic ductal adenocarcinoma (PDAC) by establishing a multisite cohort…
- Conditions
- Pancreas Cancer, Pancreas Cyst, Pancreatic Ductal Adenocarcinoma, Genetic Predisposition
- Trial name
- PRECEDE (NCT04970056)
- Where
- 62 sites in United States, Australia and 10 more
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Arbor Research Collaborative for Health
Cancer, Hereditary Neoplasms
Rare Tumors and Cancer Predisposition in Individuals and Families
Background: Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in.
- Conditions
- Cancer, Hereditary Neoplasms, Genetic Predisposition to Cancer, Environment
- Trial name
- NCT05350761
- Where
- 2 sites in United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Prostate Cancer, Prostate Biopsy
The PROFILE Study: Germline Genetic Profiling: Correlation With Targeted Prostate Cancer Screening and Treatment
Prostate cancer is now the most common cancer in men in the Western world. In the United Kingdom (UK), there were over 52,000 new cases diagnosed in 2016-2018 and a lifetime risk of 1 in 8.
- Conditions
- Prostate Cancer, Prostate Biopsy, Genetic Counselling, Genetic Markers
- Trial name
- PROFILE (NCT02543905)
- Testing
- Prostate MRI and Biopsy
- Where
- United Kingdom
- Volunteers
- 1,600 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
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
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)
Cellular Immunotherapy, Adoptive, Genetic Therapy
Long-Term Follow up of Patients Undergoing Hematopoietic Stem Cell Transplantation, Cellular Therapy, or Gene Therapy
Background: People who have had an allogeneic hematopoietic stem cell transplant (HCT), cellular therapy (CT), or gene therapy (GT) have bone marrow or an immune system that is damaged.
- Conditions
- Cellular Immunotherapy, Adoptive, Genetic Therapy, Tissue Donors, Hematopoietic Stem Cell Transplantation
- Trial name
- NCT03000244
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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