National Human Genome Research Institute (NHGRI)
National Human Genome Research Institute (NHGRI)
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Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Deciphering the Genetic Architecture of Autoimmune Diseases | Skin and Connective Tissue Diseases, autoimmune disease, connective tissue disorder, immune system disorder, systemic lupus erythematosus | Recruiting | Not stated | 2026-10-09 | NCT06948110 | |
| An Open-Label Phase 2 Study of N-Acetyl-D-Mannosamine (ManNAc) in Subjects With Podocyte Diseases | Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Urination Disorders, Urogenital Diseases, Urological Manifestations, autoimmune disease, focal segmental glomerulosclerosis, glomerulonephritis, immune system disorder, kidney disorder, macular corneal dystrophy, membranous glomerulonephritis, minimal change disease, nephritis, nephrosis, proteinuria, urinary system disorder | Recruiting | Phase 2 | 2026-10-09 | NCT06664814 | |
| Genetic Analysis of Uncommon Disease Presentations in Non-US Populations | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases | Recruiting | Not stated | 2026-10-09 | NCT06595940 | |
| Longitudinal Studies of Patient With FPDMM | Disease Attributes, Hemic and Lymphatic Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, acute myeloid leukemia, hematologic disorder, hematopoietic and lymphoid system neoplasm, leukemia, myeloid leukemia, neoplasm | Recruiting | Not stated | 2026-10-09 | NCT03854318 | |
| Genomic Services Research Program | Digestive System Diseases, Digestive System Neoplasms, Neoplasms by Site, Skin and Connective Tissue Diseases, breast cancer, breast disorder, breast neoplasm, colonic disorder, colonic neoplasm, colorectal neoplasm, digestive system disorder, digestive system neoplasm, intestinal disorder, malignant colon neoplasm, neoplasm, skin disorder | Recruiting | Not stated | 2026-10-08 | NCT02595957 | |
| Studies of Skin Microbes in Healthy People and in People With Skin Conditions | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hypersensitivity, Immediate, Skin Diseases, Eczematous, Skin and Connective Tissue Diseases, atopic eczema, dermatitis, hereditary disease, hereditary skin disorder, immune system disorder, skin disorder | Recruiting | Not stated | 2026-10-08 | NCT00605878 | |
| Diagnosis and Treatment of Patients With Inborn Errors of Metabolism | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases | Recruiting | Not stated | 2026-10-08 | NCT00369421 | |
| Analysis of Specimens From Individuals With Pulmonary Fibrosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited blood coagulation disorder, interstitial lung disease, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Active, not recruiting | Not stated | 2026-10-08 | NCT00084305 | |
| Clinical and Laboratory Study of Methylmalonic Acidemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, hyperhomocysteinemia, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn organic aciduria, malabsorption syndrome, metabolic disease, methylmalonic acidemia, nutritional deficiency disease, nutritional disorder, vitamin B deficiency, vitamin deficiency disorder | Recruiting | Not stated | 2026-10-08 | NCT00078078 | |
| Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, digestive system disorder, eye disorder, gastroenteritis, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inflammatory bowel disease, inherited blood coagulation disorder, interstitial lung disease, intestinal disorder, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2026-10-08 | NCT00001456 | |
| Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics | Body Temperature Changes, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Fever, Headache, Hypertrophy, Hypohidrosis, Neurologic Manifestations, Pain, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, Skin and Connective Tissue Diseases, Splenomegaly, eye disorder, familial Mediterranean fever, hereditary disease, hereditary periodic fever syndrome, hereditary skin disorder, inherited retinal dystrophy, retinal degeneration, retinal disorder, retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome, skin disorder, sweat gland disorder | Recruiting | Not stated | 2026-10-08 | NCT00001373 | |
| Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary disease | Recruiting | Not stated | 2026-10-07 | NCT02450851 | |
| Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Embolism and Thrombosis, Muscle Hypotonia, Neurobehavioral Manifestations, Neurologic Manifestations, Neuromuscular Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, cardiovascular disorder, congenital disorder of glycosylation, endocrine system disorder, glucose metabolism disease, hereditary disease, hypoglycemia, hypothyroidism, inborn carbohydrate metabolic disorder, inborn errors of metabolism, intellectual disability, metabolic disease, nervous system disorder, neurodevelopmental disorder, psychiatric disorder, thrombotic disease, thyroid gland disorder, vascular disorder | Recruiting | Not stated | 2026-10-02 | NCT02089789 | |
| The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Leigh syndrome, Nutritional and Metabolic Diseases, Oxidative Phosphorylation Deficiencies, Pyruvate Metabolism, Inborn Errors, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inborn mitochondrial metabolism disorder, metabolic disease, nervous system disorder | Recruiting | Not stated | 2026-10-02 | NCT01780168 | |
| Genome Medical Sequencing for Gene Discovery | Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurobehavioral Manifestations, Neurologic Manifestations, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, hereditary disease, intellectual disability, nervous system disorder, neurodevelopmental disorder, psychiatric disorder | Recruiting | Not stated | 2026-10-02 | NCT01087320 | |
| Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders | Bone Diseases, Metabolic, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dyskinesias, GM1 gangliosidosis, GM2 gangliosidosis, Gangliosidoses, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Myoclonus, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathological Conditions, Signs and Symptoms, Signs and Symptoms, bone disorder, brain disorder, central nervous system disorder, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, mucolipidosis, musculoskeletal system disorder, nervous system disorder, sphingolipidosis | Recruiting | Not stated | 2026-10-02 | NCT00029965 | |
| Genetic Study to Determine the Cause of Birth Defects in Newborns in Texas | Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases | Recruiting | Not applicable | 2026-10-01 | NCT07102966 | |
| IDENTIFY Study: Natural History of Maternal Neoplasia | Maternal Neoplasia | Recruiting | Not stated | 2026-10-01 | NCT04049604 | |
| Reverse Phenotyping Core | Harboring of Unexpected Genetic Variant | Enrolling by invitation | Not stated | 2026-09-28 | NCT03632239 | |
| Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn organic aciduria, metabolic disease, propionic acidemia | Recruiting | Not stated | 2026-09-28 | NCT02890342 | |
| Supporting Just-In-Time Consent for Prenatal Screening: The INFORM Study | Decision Making; Delivery of Health Care; Genetic Testing; Health Education; Humans; Informed Consent; Internet-Based Intervention; Noninvasive Prenatal Testing; Patient Education as Topic/Method; Pregnancy; Pregnant People; Self Efficacy | Recruiting | Not applicable | 2026-09-22 | NCT07557303 | |
| Study of Proteus Syndrome and Related Congenital Disorders | Abnormalities, Multiple, Bone Diseases, Developmental, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cowden disease, Limb Deformities, Congenital, Musculoskeletal Abnormalities, Neoplasms, Multiple Primary, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Proteus syndrome, bone disorder, hamartoma, hereditary endocrine growth disease, musculoskeletal system disorder, neoplasm | Recruiting | Not stated | 2026-09-22 | NCT00001403 | |
| Genetic Studies of Lysosomal Storage Disorders | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gaucher disease, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, Parkinson disease, basal ganglia disorder, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, movement disorder, nervous system disorder, neurodegenerative disease, parkinsonian disorder, sphingolipidosis, synucleinopathy | Enrolling by invitation | Not stated | 2026-09-22 | NCT00001215 | |
| A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Gangliosidoses, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, nervous system disorder, sphingolipidosis | Recruiting | Phase 1 / Phase 2 | 2026-09-21 | NCT03952637 | |
| Dietary Intake and Dietary Behaviors in Adults With Sickle Cell Disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Hemic and Lymphatic Diseases, anemia, familial hemolytic anemia, hematologic disorder, hemolytic anemia, hereditary disease, inherited hemoglobinopathy, sickle cell disease | Recruiting | Not stated | 2026-09-18 | NCT05170412 |