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Undiagnosed Diseases

Undiagnosed Diseases

Explore linked clinical trials. Standard reference: MESH:M000648465
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Clinical trials

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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Genetic Analysis of Uncommon Disease Presentations in Non-US PopulationsDisease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed DiseasesRecruitingNot stated2026-10-09NCT06595940
Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, cardiovascular disorderRecruitingNot stated2026-10-08NCT02543996
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases NetworkCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary diseaseRecruitingNot stated2026-10-07NCT02450851
The Mayo Clinic Rare and Undiagnosed Disease HackathonCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary diseaseEnrolling by invitationNot stated2026-10-01NCT07714161
EpiSign International: Expanding Epigenomic Testing in Rare DiseaseCongenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary diseaseNot yet recruitingNot stated2026-09-24NCT07839754
Vascular Disease Discovery ProtocolDisease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Undiagnosed Diseases, disease susceptibility, inherited disease susceptibilityRecruitingNot stated2026-09-18NCT03538639
Caregiving Networks Across Disease Context and the Life CourseCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, diabetes mellitus, endocrine system disorder, glucose metabolism disease, hereditary disease, inborn errors of metabolism, inherited neurodegenerative disorder, lysosomal lipid storage disorder, metabolic disease, nervous system disorder, neurodegenerative diseaseRecruitingNot stated2026-09-15NCT05007990
UW ISeqU: Clinical Impact of Whole-genome Sequencing in AdultsCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Critical Illness, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Undiagnosed Diseases, hereditary diseaseEnrolling by invitationNot stated2026-07-22NCT07718971
UW Undiagnosed Genetic Diseases ProgramCongenital, Hereditary, and Neonatal Diseases and Abnormalities, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed Diseases, hereditary diseaseRecruitingNot stated2026-05-29NCT04586075
Exome and Genome Analysis to Elucidate Genetic Etiologies and Population Characteristics in the Plain CommunityDisease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Undiagnosed DiseasesRecruitingNot stated2026-03-10NCT02927158
Research for Individualized Therapeutics in Rare Genetic DiseaseDisease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Undiagnosed DiseasesEnrolling by invitationNot stated2026-01-20NCT05236595
Rare and Undiagnosed Disease Research BiorepositoryDisease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Rare Diseases, Undiagnosed DiseasesEnrolling by invitationNot stated2025-12-15NCT04703179
Quebec Lung Cancer Screening PLUS TrialChronic Disease, Disease Attributes, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Undiagnosed Diseases, chronic obstructive pulmonary disease, lung disorder, obstructive lung disease, respiratory system disorderActive, not recruitingNot applicable2025-08-11NCT05444062
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.2-hydroxyglutaric aciduria, Alexander disease, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cysts, Digestive System Diseases, Disease Attributes, Hereditary Central Nervous System Demyelinating Diseases, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Pelizaeus-Merzbacher spectrum disorder, Peroxisomal Disorders, Rare Diseases, Sulfatidosis, Undiagnosed Diseases, Wilson disease, X-linked disease, adrenal gland disorder, adrenocortical insufficiency, adrenoleukodystrophy, basal ganglia disorder, bilateral striopallidodentate calcinosis, brain disorder, central nervous system disorder, cerebrotendinous xanthomatosis, demyelinating disease, endocrine system disorder, hereditary disease, inborn errors of metabolism, inborn metal metabolism disorder, inherited neurodegenerative disorder, intellectual disability, liver disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, methylmalonic aciduria and homocystinuria, movement disorder, neoplasm, nervous system disorder, neurodegenerative disease, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, sphingolipidosis, xanthomatosisRecruitingNot stated2024-11-19NCT04880356