Clinical Trials

Myasthenia Gravis, Rare Diseases

Nasopharyngeal Carcinoma, Bile Duct Neoplasms, Carcinoma, Basal Cell, Adenocarcinoma, Bronchiolo-Alveolar, Adenocarcinoma, Mucinous, Carcinoma, Transitional Cell, Carcinosarcoma, Chordoma, Carcinoma, Adenoid Cystic, Fibroma, Gallbladder Neoplasms, Hemangiosarcoma, Mouth Neoplasms, Paget Disease, Extramammary, Paraganglioma, Paranasal Sinus Neoplasms, Parathyroid Neoplasms, Pheochromocytoma, Pseudomyxoma Peritonei, Somatostatinoma, Thyroid Neoplasms, Vulvar Neoplasms, Desmoid Tumors, Seminoma, Carcinoma, Acinar Cell, Adrenocortical Carcinoma, Carcinoma, Endometrioid, Cholangiocarcinoma, Cystadenocarcinoma, Mucinous, Cystadenocarcinoma, Serous, Carcinoma, Giant Cell, Neurofibrosarcoma, Gestational Trophoblastic Disease, Rare Diseases, Gastrointestinal Stromal Tumors, Perivascular Epithelioid Cell Neoplasms

Treatment Adherence and Compliance, Cardiovascular Diseases, Neoplasms, Rare Diseases

Neoplasms, Neoplasms, Neuroepithelial, Rare Diseases

Arthritis, Rheumatoid, Lupus Erythematosus, Systemic, Mastocytosis, Myositis, Sjogren's Syndrome, Vasculitis, Arthritis, Psoriatic, Antiphospholipid Syndrome, Spondylarthritis, Rare Diseases, Scleroderma, Diffuse

Platelet Disorder, Familial, with Associated Myeloid Malignancy, Neoplasms, Leukemia, Myeloid, Acute, Hematologic Neoplasms, Rare Diseases

Blast Crisis, Myeloproliferative Disorders, Polycythemia Vera, Thrombocythemia, Essential, Disease Progression, Bone Marrow Neoplasms, Hematologic Neoplasms, Rare Diseases, Primary Myelofibrosis

Immunoglobulin G4-Related Disease, Adrenal Hyperplasia, Congenital, Amyloidosis, Cardiomyopathy, Hypertrophic, Cushing Syndrome, Demyelinating Diseases, Gaucher Disease, Hepatolenticular Degeneration, von Hippel-Lindau Disease, Hirschsprung Disease, Hypertension, Pulmonary, Mastocytosis, Metabolism, Inborn Errors, Multiple Endocrine Neoplasia, Paraganglioma, Pheochromocytoma, Prader-Willi Syndrome, Sarcoidosis, Telangiectasia, Hereditary Hemorrhagic, Inflammatory Bowel Diseases, Neurocutaneous Syndromes, Rare Diseases, Vascular Malformations, Angioedemas, Hereditary, Eosinophilic Esophagitis

Rare Diseases

Neoplasms, Rare Diseases

Neoplasms, Rare Diseases

Neoplasms, Radiation Injuries, Rare Diseases

Congenital Portosystemic Shunt, Hepatic Encephalopathy, Hyperinsulinism, Hypertension, Pulmonary, Hypoglycemia, Insulin Resistance, Liver Neoplasms, Hyperandrogenism, Hepatopulmonary Syndrome, Hyperammonemia, Rare Diseases, Vascular Malformations

Leukoencephalopathy Brain Calcifications and Cysts, Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, Recurrent respiratory papillomatosis, Cerebellar ataxia ectodermal dysplasia, CAPOS syndrome, Chromosome 1p36 Deletion Syndrome, Ataxia with vitamin E deficiency, Chronic recurrent multifocal osteomyelitis, Episodic Ataxia, Type 2, Harding ataxia, Axenfeld-Rieger syndrome, Emanuel syndrome, Erythrokeratodermia with ataxia, Eosinophilic enteropathy, Achalasia Addisonianism Alacrimia syndrome, Maternally Inherited Leigh Syndrome, Nicolaides Baraitser syndrome, Trimethylaminuria, Warburg Sjo Fledelius syndrome, Spastic ataxia Charlevoix-Saguenay type, Turcot syndrome, KBG syndrome, Spinocerebellar ataxia 13, Spinocerebellar ataxia 14, Sensorimotor neuropathy with ataxia, autosomal dominant, Spinocerebellar ataxia 20, Spinocerebellar ataxia 21, Spinocerebellar ataxia 23, Spinocerebellar ataxia 25, Spinocerebellar ataxia 26, Spinocerebellar ataxia 27, Spinocerebellar ataxia 28, Sacral defect and anterior sacral meningocele, Spinocerebellar ataxia 8, Spinocerebellar ataxia, autosomal recessive 1, Spinocerebellar ataxia, autosomal recessive 3, Spinocerebellar ataxia, X-linked, 3, Spinocerebellar ataxia, X-linked, 4, Neuropathy ataxia and retinitis pigmentosa, Pitt-Hopkins syndrome, Bohring syndrome, Stickler syndrome, type 1, Stickler syndrome, type 2, Jansen type metaphyseal chondrodysplasia, Growth mental deficiency syndrome of Myhre, Kabuki syndrome, Laryngeal papillomatosis, Peters anomaly, Early-onset ataxia with oculomotor apraxia and hypoalbuminemia, Sucrase-isomaltase deficiency, congenital, Blau syndrome, Acrodysostosis, Cataract ataxia deafness, Potocki-Shaffer syndrome, Hypophosphatasia, Childhood, Hypophosphatasia, Adult, Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type, Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus, Episodic Ataxia, Type 1, Cerebellar Ataxia, Cayman Type, Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia, Olivopontocerebellar Atrophy V, Myoclonus, Cerebellar Ataxia, and Deafness, Spinocerebellar Ataxia, Autosomal Recessive 7, Fragile X Tremor Ataxia Syndrome, Odontohypophosphatasia, Spinocerebellar Ataxia with Epilepsy, Spinocerebellar Ataxia 15, Episodic Ataxia, Type 3, Episodic Ataxia, Type 4, Spastic Ataxia, Spinocerebellar Ataxia, Autosomal Recessive 8, Dimethylglycine Dehydrogenase Deficiency, Growth Deficiency and Mental Retardation with Facial Dysmorphism, Cystinosis, Infantile Nephropathic, 3-Methylglutaconic Aciduria, Type V, Spinocerebellar Ataxia 11, Ataxia Telangiectasia Like Disorder, Spinocerebellar Ataxia 12, Cerebellar Ataxia and Hypogonadotropic Hypogonadism, Spinocerebellar Ataxia 31, Brachydactyly-Nystagmus-Cerebellar Ataxia, Ataxia, Spastic, with Congenital Miosis, Aniridia and Absent Patella, Hereditary Myopathy with Early Respiratory Failure, Episodic Ataxia, Type 5, Sacral Agenesis Syndrome, Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia, Ataxia-Telangiectasia Variant, Spinocerebellar Ataxia 10, Ataxia, Spastic, 3, Autosomal Recessive, Multiple Endocrine Neoplasia, Type IV, Hypophosphatasia, Perinatal Lethal, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract, Episodic Ataxia, Type 6, Episodic Ataxia, Type 7, Spinocerebellar ataxia 30, Ataxia Neuropathy Spectrum, Hereditary Sensory and Autonomic Neuropathy Type Ie, Cauda Equina Syndrome, Olivary Degeneration, Addison Disease, Ataxia, Ataxia Telangiectasia, Beckwith-Wiedemann Syndrome, Biliary Atresia, Cockayne Syndrome, Cystinosis, De Lange Syndrome, Deafness, Esophageal Achalasia, Friedreich Ataxia, Glycogen Storage Disease, Halitosis, Hirschsprung Disease, Disorders of Excessive Somnolence, Hypophosphatasia, Infections, Intestinal Pseudo-Obstruction, Klippel-Feil Syndrome, Leigh Disease, Leiomyosarcoma, Leukodystrophy, Metachromatic, Liver Cirrhosis, Biliary, Lyme Disease, Meningitis, Viral, Moyamoya Disease, Mucocutaneous Lymph Node Syndrome, Mucolipidoses, Muscle Spasticity, Myasthenia Gravis, Myoclonus, Narcolepsy, Multiple Endocrine Neoplasia, Neuronal Ceroid-Lipofuscinoses, Hereditary Sensory and Autonomic Neuropathies, Oculocerebrorenal Syndrome, Hyperacusis, Rectal Fistula, Refsum Disease, Retinitis Pigmentosa, Scheuermann Disease, Short Bowel Syndrome, Spinocerebellar Degenerations, Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Lambert-Eaton Myasthenic Syndrome, Aniridia, Alagille Syndrome, Kleine-Levin Syndrome, WAGR Syndrome, Machado-Joseph Disease, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2a, Multiple Endocrine Neoplasia Type 2b, Williams Syndrome, Multiple System Atrophy, Hyperglycinemia, Nonketotic, Hyperargininemia, Idiopathic Hypersomnia, Amnesia, Transient Global, Spinocerebellar Ataxias, Myasthenia Gravis, Neonatal, Mitochondrial Diseases, Optic Atrophy, Autosomal Dominant, Denys-Drash Syndrome, Rare Diseases, Coffin-Lowry Syndrome, Muscular Dystrophy, Oculopharyngeal, beta-Mannosidosis, Scleroderma, Diffuse, Lymphohistiocytosis, Hemophagocytic, Frasier Syndrome, Wolf-Hirschhorn Syndrome, Bulbo-Spinal Atrophy, X-Linked, Alstrom Syndrome, Leber Congenital Amaurosis, Frontotemporal Dementia, Neglected Diseases, Atypical Hemolytic Uremic Syndrome

Lymphoma, T-Cell, Peripheral, Rare Diseases

Genetic Risk Score, Genetic Predisposition to Disease, Rare Diseases

Malignant mesenchymal tumor, Sarcoma, Osteosarcoma, Rare Diseases

Psychological Well-Being, Enchondromatosis, Exostoses, Multiple Hereditary, Osteogenesis Imperfecta, Rare Diseases

Rare Diseases

Leukemia, Lymphoma, Neoplasms, Unknown Primary, Hematologic Neoplasms, Rare Diseases

2-Hydroxyglutaricaciduria, Fahr's disease, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, Methylmalonic acidemia with homocystinuria, Undiagnosed Diseases, Adrenoleukodystrophy, Cysts, Hepatolenticular Degeneration, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Metabolic Diseases, Nervous System Diseases, Sphingolipidoses, Xanthomatosis, Cerebrotendinous, Pelizaeus-Merzbacher Disease, Genetic Diseases, Inborn, Rare Diseases, Alexander Disease, Leukoencephalopathies

Alzheimer Disease, Amyloidosis, Amyotrophic Lateral Sclerosis, Anemia, Sickle Cell, Cystic Fibrosis, Ehlers-Danlos Syndrome, Gaucher Disease, Glycogen Storage Disease Type II, Huntington Disease, Myasthenia Gravis, Gangliosidosis, GM1, alpha-Thalassemia, beta-Thalassemia, Muscular Dystrophy, Duchenne, Insomnia, Fatal Familial, Rare Diseases

Rare Diseases

Wilms Tumor, Neuroblastoma, Hepatoblastoma, Rare Diseases

Genetic Risk Score, Genetic Predisposition to Disease, Rare Diseases

Bone Neoplasms, Sarcoma, Sarcoma, Ewing, Neuroectodermal Tumors, Neuroectodermal Tumors, Primitive, Peripheral, Neuroectodermal Tumors, Primitive, Rare Diseases

Genetic Predisposition to Disease, Rare Diseases

Endocrine Gland Neoplasms, Rare Diseases

Bile Duct Neoplasms, Urinary Bladder Neoplasms, Breast Neoplasms, Carcinoma, Renal Cell, Uterine Cervical Neoplasms, Colonic Neoplasms, Head and Neck Neoplasms, Laryngeal Neoplasms, Lip Neoplasms, Liver Neoplasms, Lung Neoplasms, Mouth Neoplasms, Ovarian Neoplasms, Pancreatic Neoplasms, Prostatic Neoplasms, Rectal Neoplasms, Salivary Gland Neoplasms, Skin Neoplasms, Stomach Neoplasms, Tongue Neoplasms, Tonsillar Neoplasms, Urologic Neoplasms, Carcinoma, Mucoepidermoid, Cholangiocarcinoma, Rare Diseases

Neoplasms, Neoplasms by Histologic Type, Neoplasms, Connective Tissue, Sarcoma, Sarcoma, Ewing, Neoplasms, Connective and Soft Tissue, Neoplasms, Bone Tissue, Neuroectodermal Tumors, Primitive, Peripheral, Rare Diseases

COVID-19, Enchondromatosis, Exostoses, Multiple Hereditary, Osteogenesis Imperfecta, Rare Diseases

Anemia, Sickle Cell, Hemophilia B, Cystic Fibrosis, Hemophilia A, Myasthenia Gravis, Rare Diseases, Idiopathic Pulmonary Fibrosis

Lymphoma, Follicular, Rare Diseases

Lymphoma, T-Cell, Peripheral, Rare Diseases

Arthritis, Connective Tissue Diseases, Dupuytren Contracture, Rare Diseases

Respiration Disorders, Rare Diseases, Respiratory Aspiration

Hemangioma, Respiratory Tract Diseases, Rare Diseases

Mental Disorders, Neurologic Manifestations, Neuroma, Acoustic, Neurofibromatosis 2, Neurofibromatoses, Genetic Diseases, Inborn, Hearing Loss, Rare Diseases

Mental Disorders, Myasthenia Gravis, Neurologic Manifestations, Rare Diseases

Astrocytoma, Brain Neoplasms, Glioblastoma, Glioma, Oligodendroglioma, Genetic Diseases, Inborn, Rare Diseases

Mental Disorders, Neurologic Manifestations, Lambert-Eaton Myasthenic Syndrome, Rare Diseases

Crohn Disease, Gastrointestinal Diseases, Rare Diseases

Arthritis, Connective Tissue Diseases, Dupuytren Contracture, Rare Diseases

Immunoglobulin Light-chain Amyloidosis, Amyloidosis, Arthritis, Connective Tissue Diseases, Hematologic Neoplasms, Genetic Diseases, Inborn, Rare Diseases, Neoplasms, Plasma Cell

Anxiety Disorders, Mental Disorders, Neurologic Manifestations, Obsessive-Compulsive Disorder, Rare Diseases

Acanthosis Nigricans, Endocrine System Diseases, Polycystic Ovary Syndrome, Skin Diseases, Rare Diseases

Anxiety Disorders, Mental Disorders, Tourette Syndrome, Neurologic Manifestations, Obsessive-Compulsive Disorder, Rare Diseases

Anxiety Disorders, Mental Disorders, Tourette Syndrome, Neurologic Manifestations, Obsessive-Compulsive Disorder, Rare Diseases

Mental Disorders, Diffuse Cerebral Sclerosis of Schilder, Encephalomyelitis, Acute Disseminated, Multiple Sclerosis, Myelitis, Transverse, Neurologic Manifestations, Neuromyelitis Optica, Rare Diseases

Brain Neoplasms, Genetic Diseases, Inborn, Rare Diseases