Amino Acid Transport Disorders, Inborn
Amino Acid Transport Disorders, Inborn
Explore linked clinical trials. Standard reference: MESH:M03280954 results ยท Page 1 of 1
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Prospective Research Rare Kidney Stones (ProRKS) | Abnormalities, Multiple, Amino Acid Transport Disorders, Inborn, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Dent disease, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hyperoxaluria, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, X-linked disease, adenine phosphoribosyltransferase deficiency, brain disorder, central nervous system disorder, cystinuria, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, kidney disorder, metabolic disease, nervous system disorder, oculocerebrorenal syndrome, primary hyperoxaluria, renal aminoaciduria, renal tubular transport disease, urinary system disorder | Recruiting | Not stated | 2026-08-07 | NCT02780297 | |
| An Open-label, Phase 2 Pilot Study on the Efficacy and Safety of Piclidenoson in Patients With Lowe Syndrome | Abnormalities, Multiple, Amino Acid Transport Disorders, Inborn, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Urogenital Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn errors of metabolism, kidney disorder, metabolic disease, nervous system disorder, oculocerebrorenal syndrome, renal tubular transport disease, urinary system disorder | Not yet recruiting | Phase 2 | 2026-02-18 | NCT07410455 | |
| Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | 3-methylglutaconic aciduria type 5, 46 XY differences of sex development, 4p16.3 microduplication syndrome, Abnormalities, Multiple, Alagille syndrome, Alstrom syndrome, Amino Acid Transport Disorders, Inborn, Amnesia, Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation, Aortic Stenosis, Supravalvular, Arterial Occlusive Diseases, Ataxia-Telangiectasia Variant, Axenfeld-Rieger syndrome, Bacterial Infections and Mycoses, Beckwith-Wiedemann syndrome, Blau syndrome, Bohring-Opitz syndrome, Bone Diseases, Developmental, Bone Diseases, Metabolic, Borrelia infectious disease, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cardiovascular Abnormalities, Cayman type cerebellar ataxia, Charlevoix-Saguenay spastic ataxia, Chronic Disease, Ciliopathies, Cockayne syndrome, Coffin-Lowry syndrome, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, DNA repair disease, De Lange Syndrome, Deafness, Deglutition Disorders, Denys-Drash syndrome, Digestive System Abnormalities, Digestive System Diseases, Digestive System Fistula, Disease Attributes, Disorders of Excessive Somnolence, Dwarfism, Dyskinesias, Dyssomnias, Ear Diseases, Emanuel syndrome, Eosinophilic enteropathy, Eye Abnormalities, Eye Diseases, Hereditary, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fibrosis, Fistula, Frasier syndrome, Friedreich ataxia, Frontotemporal Lobar Degeneration, Growth Deficiency and Mental Retardation with Facial Dysmorphism, Halitosis, Hemic and Lymphatic Diseases, Hereditary Central Nervous System Demyelinating Diseases, Hirschsprung disease, Hyperglycinemia, Nonketotic, Hypophosphatasia, Adult, Hypophosphatasia, Perinatal Lethal, Imprinting Disorders, Infections, KBG syndrome, Kabuki syndrome, Kawasaki disease, Kennedy disease, Kleine-Levin syndrome, Klippel-Feil syndrome, Kyphosis, Lambert-Eaton myasthenic syndrome, Leber congenital amaurosis, Leigh syndrome, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lyme disease, Lymphohistiocytosis, Hemophagocytic, Lysosomal Storage Diseases, Nervous System, Machado-Joseph disease, Machado-Joseph disease type 1, Machado-Joseph disease type 2, Machado-Joseph disease type 3, Malan overgrowth syndrome, Male Urogenital Diseases, Mannosidase Deficiency Diseases, Memory Disorders, Moyamoya disease, Muscle Hypertonia, Muscle Spasticity, Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus, Muscular Disorders, Atrophic, Musculoskeletal Abnormalities, Myhre syndrome, Myoclonus, Myoclonus, Nocturnal, NARP syndrome, Neglected Diseases, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Connective and Soft Tissue, Neoplasms, Multiple Primary, Neurobehavioral Manifestations, Neuroinflammatory Diseases, Neurologic Manifestations, Neuromuscular Manifestations, Neuronal Ceroid-Lipofuscinoses, Nutritional and Metabolic Diseases, Olivary Degeneration, Optic Atrophy, Autosomal Dominant, PHARC syndrome, Paraneoplastic Syndromes, Nervous System, Pathologic Processes, Pathological Conditions, Anatomical, Pathological Conditions, Signs and Symptoms, Peroxisomal Disorders, Peters anomaly, Pitt-Hopkins syndrome, Postoperative Complications, Potocki-Shaffer syndrome, Primary Immunodeficiency Diseases, Pyruvate Dehydrogenase Complex Deficiency Disease, Pyruvate Metabolism, Inborn Errors, Rare Diseases, Sacral agenesis, Sacral defect and anterior sacral meningocele, Scheuermann disease, Sensation Disorders, Signs and Symptoms, Signs and Symptoms, Digestive, Skin and Connective Tissue Diseases, Skraban-Deardorff syndrome, Sleep Disorders, Intrinsic, Spinal Curvatures, Spinal Osteochondrosis, Spinocerebellar Ataxia, Autosomal Recessive 8, Spinocerebellar Ataxias, Spinocerebellar Degenerations, Spinocerebellar ataxia 8, Stickler syndrome type 1, Stickler syndrome type 2, Sulfatidosis, TDP-43 proteinopathy, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, WAGR syndrome, Warburg Sjo Fledelius syndrome, Wiedemann-Steiner syndrome, Williams syndrome, Wilms tumor, Wolf-Hirschhorn syndrome, X-linked cerebellar ataxia, X-linked disease, X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked non progressive cerebellar ataxia, X-linked progressive cerebellar ataxia, X-linked spinocerebellar ataxia type 3, X-linked spinocerebellar ataxia type 4, achalasia, acquired ataxia, acrodysostosis, adrenal gland disorder, adrenocortical insufficiency, adult Refsum disease, adult hypophosphatasia, anal fistula, anemia, aniridia, aniridia-absent patella syndrome, aortic valve disorder, aortic valve stenosis, arginase deficiency, atactic disorder, non-human animal, ataxia neuropathy spectrum, ataxia telangiectasia, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, ataxia-telangiectasia-like disorder, atypical hemolytic-uremic syndrome, autoimmune disease, autoimmune disorder of the nervous system, autonomic nervous system disorder, autosomal dominant cerebellar ataxia, autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia type III, autosomal dominant cerebellar ataxia type IV, autosomal dominant cerebellar ataxia, deafness and narcolepsy, autosomal dominant spastic ataxia, autosomal recessive ataxia due to PEX10 deficiency, autosomal recessive ataxia due to ubiquinone deficiency, autosomal recessive ataxia, Beauce type, autosomal recessive cerebellar ataxia, autosomal recessive cerebellar ataxia with late-onset spasticity, autosomal recessive congenital cerebellar ataxia, autosomal recessive degenerative and progressive cerebellar ataxia, autosomal recessive metabolic cerebellar ataxia, autosomal recessive spastic ataxia, autosomal recessive spinocerebellar ataxia 12, autosomal recessive spinocerebellar ataxia 7, autosomal recessive syndromic cerebellar ataxia, bacterial infectious disease, basal ganglia disorder, benign paroxysmal tonic upgaze of childhood with ataxia, benign urinary system neoplasm, beta-mannosidosis, bile duct disorder, biliary atresia, biliary tract disorder, blood platelet disease, bone disorder, brachydactyly-nystagmus-cerebellar ataxia syndrome, brain disorder, breast implant-associated anaplastic large cell lymphoma, cardiovascular disorder, carotid artery disorder, cataract-ataxia-deafness syndrome, cauda equina syndrome, caudal regression sequence, central nervous system disorder, central nervous system infectious disorder, central nervous system malformation, cerebellar ataxia, cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, cerebellar ataxia-ectodermal dysplasia syndrome, cerebellar ataxia-hypogonadism syndrome, cerebellar disorder, cerebral arterial disease, cerebrovascular disorder, childhood hypophosphatasia, cholestasis, chromosomal disorder, chromosome 1p36 deletion syndrome, chronic recurrent multifocal osteomyelitis, chronic renal failure syndrome, cirrhosis of liver, cognitive disorder, colonic disorder, congenital heart disease, congenital sucrase-isomaltase deficiency, connective tissue disorder, cranial nerve neuropathy, cystinosis, dementia, demyelinating disease, diffuse scleroderma, digestive system disorder, dimethylglycine dehydrogenase deficiency, disease, disorder of glycogen metabolism, disorder of sexual differentiation, dyskinesia of esophagus, dysostosis, early-onset cerebellar ataxia with retained tendon reflexes, endocrine system disorder, eosinophilic gastroenteritis, episodic ataxia type 1, episodic ataxia type 2, episodic ataxia type 3, episodic ataxia type 4, episodic ataxia type 5, episodic ataxia type 6, episodic ataxia type 7, esophageal disorder, eye disorder, familial caudal dysgenesis, familial isolated deficiency of vitamin E, fragile X-associated tremor/ataxia syndrome, frontotemporal dementia, gonadal disorder, gram-negative bacterial infections, hearing disorder, hearing loss disorder, heart disorder, heart valve disorder, hematologic disorder, hemolytic anemia, hemolytic-uremic syndrome, hereditary ataxia, hereditary disease, hereditary episodic ataxia, hereditary motor and sensory neuropathy, hereditary neoplastic syndrome, hereditary optic atrophy, hereditary sensory and autonomic neuropathy, hereditary sensory neuropathy-deafness-dementia syndrome, histiocytosis, hyperacusis, hypertrophic olivary degeneration, hypophosphatasia, idiopathic achalasia, idiopathic gastroparesis, idiopathic hypersomnia, idiopathic hypersomnia with long sleep time, idiopathic hypersomnia without long sleep time, ileus, immune system disorder, inborn carbohydrate metabolic disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, inborn metal metabolism disorder, inborn mitochondrial metabolism disorder, inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1, infantile hypophosphatasia, inherited neurodegenerative disorder, inherited retinal dystrophy, intellectual disability, intellectual disability-sparse hair-brachydactyly syndrome, intestinal disorder, intestinal fistula, intestinal obstruction, intestinal pseudo-obstruction, intracranial arterial disease, intrahepatic cholestasis, iris disorder, isolated aniridia, juvenile myasthenia gravis, juvenile nephropathic cystinosis, kidney cancer, kidney disorder, kidney failure, laryngeal papillomatosis, leiomyosarcoma, leiomyosarcoma of the cervix uteri, leiomyosarcoma of the corpus uteri, leukodystrophy, leukoencephalopathy with calcifications and cysts, liver disorder, lymphatic system disorder, lysosomal lipid storage disorder, lysosomal storage disease, malabsorption syndrome, malignant endocrine neoplasm, maternally-inherited Leigh syndrome, megacolon, meningitis, metabolic disease, metachromatic leukodystrophy, metaphyseal chondrodysplasia, Jansen type, mismatch repair cancer syndrome 1, mixed neoplasm, motor neuron disorder, movement disorder, mucolipidosis, mucolipidosis type IV, multiple endocrine neoplasia, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, multiple endocrine neoplasia type 4, multiple system atrophy, multiple system atrophy, cerebellar type, multiple system atrophy, parkinsonian type, muscle tissue disorder, muscular dystrophy, musculoskeletal system disorder, myasthenia gravis, myoclonus-cerebellar ataxia-deafness syndrome, myomatous neoplasm, myopathy, myofibrillar, 9, with early respiratory failure, narcolepsy, narcolepsy without cataplexy, neonatal myasthenia gravis, neoplasm, nephropathic cystinosis, nephropathic infantile cystinosis, nerve compression syndrome, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, neuromuscular disease, neuromuscular junction disease, non-Langerhans cell histiocytosis, oculocerebrorenal syndrome, oculopharyngeal muscular dystrophy, odontohypophosphatasia, optic atrophy, optic nerve disorder, osteochondrosis, otorhinolaryngologic disease, paraneoplastic syndrome, perinatal lethal hypophosphatasia, peripheral nervous system disorder, peroxisome biogenesis disorder 4B, polyneuropathy, polyradiculoneuropathy, prenatal benign hypophosphatasia, primary biliary cholangitis, primary dysautonomia, proteostasis deficiencies, psychiatric disorder, recessive mitochondrial ataxia syndrome, rectal disorder, recurrent respiratory papillomatosis, renal tubular transport disease, retinal degeneration, retinal disorder, retinitis pigmentosa, sarcoma, scleroderma, short bowel syndrome, silver-Russell syndrome due to 11p15 microduplication, silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, skin disorder, skin vascular disease, sleep-wake disorder, small intestine leiomyosarcoma, spastic ataxia, spastic ataxia 3, spastic ataxia 7, spasticity-ataxia-gait anomalies syndrome, sphingolipidosis, spinal cord disorder, spinal muscular atrophy, spinocerebellar ataxia 7, spinocerebellar ataxia type 1, spinocerebellar ataxia type 10, spinocerebellar ataxia type 11, spinocerebellar ataxia type 12, spinocerebellar ataxia type 13, spinocerebellar ataxia type 14, spinocerebellar ataxia type 15/16, spinocerebellar ataxia type 17, spinocerebellar ataxia type 18, spinocerebellar ataxia type 19/22, spinocerebellar ataxia type 2, spinocerebellar ataxia type 20, spinocerebellar ataxia type 21, spinocerebellar ataxia type 23, spinocerebellar ataxia type 25, spinocerebellar ataxia type 26, spinocerebellar ataxia type 27, spinocerebellar ataxia type 28, spinocerebellar ataxia type 29, spinocerebellar ataxia type 30, spinocerebellar ataxia type 31, spinocerebellar ataxia type 32, spinocerebellar ataxia type 34, spinocerebellar ataxia type 35, spinocerebellar ataxia type 36, spinocerebellar ataxia type 37, spinocerebellar ataxia type 4, spinocerebellar ataxia type 5, spinocerebellar ataxia type 6, spinocerebellar ataxia type 8, spinocerebellar ataxia with epilepsy, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, spirochaetales infections, sporadic adult-onset ataxia of unknown etiology, syndromic disease, synucleinopathy, systemic sclerosis, telangiectasis, thrombocytopenia, thrombotic microangiopathy, tick-borne infectious disease, transient global amnesia, triple-A syndrome, urea cycle disorder, uremia, urinary system disorder, uveal disorder, vascular disorder, vasculitis, vector-borne disease, vertebral column disorder, viral infection of central nervous system, viral infectious disease, viral meningitis | Recruiting | Not stated | 2025-05-29 | NCT01793168 | |
| National Registry of Rare Kidney Diseases | 46 XY differences of sex development, AH amyloidosis, Abnormalities, Multiple, Alport syndrome, Amino Acid Transport Disorders, Inborn, Arterial Occlusive Diseases, Bartter syndrome, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Cerebral Small Vessel Diseases, Ciliopathies, Collagen Diseases, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cytopenia, Dent disease, Denys-Drash syndrome, EAST syndrome, Fabry disease, Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 3, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Fibrosis, Gitelman syndrome, Glycosuria, Hemic and Lymphatic Diseases, Hyperoxaluria, IgA glomerulonephritis, IgG4-related retroperitoneal fibrosis, Immunoglobulin Light-chain Amyloidosis, Liddle syndrome, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Malformations of Cortical Development, Group I, Neoplasms by Histologic Type, Neoplasms by Site, Neoplasms, Multiple Primary, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Polycystic Kidney, Autosomal Recessive, Skin and Connective Tissue Diseases, Urination Disorders, Urogenital Abnormalities, Urogenital Diseases, Urogenital Neoplasms, Wilms tumor, X-linked disease, adenine phosphoribosyltransferase deficiency, adrenal gland disorder, adrenal gland hyperfunction, amyloidosis, anemia, arthropathy, atypical hemolytic-uremic syndrome, autoimmune disease, autosomal dominant polycystic kidney disease, autosomal recessive proximal renal tubular acidosis, benign urinary system neoplasm, blood platelet disease, brain disorder, calcinosis, calciphylaxis, calcium metabolic disease, cardiovascular disorder, central nervous system disorder, central nervous system malformation, cerebral cortical dysplasia, cerebrovascular disorder, complement 3 glomerulopathy, connective tissue disorder, cystic kidney disease, cystinosis, cystinuria, diabetes insipidus, disorder of sexual differentiation, endocrine system disorder, familial primary hypomagnesemia with hypocalcuria, familial renal glucosuria, fibromuscular dysplasia, focal segmental glomerulosclerosis, glomerulonephritis, glucose metabolism disease, gonadal disorder, hamartoma, hematologic disorder, hematuria, benign familial, hemolytic anemia, hemolytic-uremic syndrome, hereditary disease, hereditary hypophosphatemic rickets with hypercalciuria, hereditary neoplastic syndrome, hereditary nephritis, hereditary renal hypouricemia, hyperaldosteronism, immune system disorder, immunoproliferative disorder, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intestinal hypomagnesemia 1, kidney cancer, kidney disorder, lymphoproliferative syndrome, lysosomal lipid storage disorder, lysosomal storage disease, membranoproliferative glomerulonephritis, membranous glomerulonephritis, metabolic disease, minimal change disease, mixed neoplasm, monoclonal gammopathy, musculoskeletal system disorder, nail disorder, nail-patella syndrome, neoplasm, nephritis, nephrogenic diabetes insipidus, nephrogenic syndrome of inappropriate antidiuresis, nephronophthisis, nephronophthisis 1, nephrosis, nephrotic syndrome, nephrotic syndrome of childhood - steroid sensitive, nervous system disorder, neurocutaneous syndrome, neurodegenerative disease, oculocerebrorenal syndrome, plasma cell neoplasm, polycystic kidney disease, primary hyperoxaluria, proteostasis deficiencies, pseudohypoaldosteronism, pseudohypoaldosteronism, type IB1, autosomal recessive, pure red-cell aplasia, renal aminoaciduria, renal cysts and diabetes syndrome, renal hypomagnesemia 3, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, renal tubular transport disease, skin disorder, sphingolipidosis, steroid-resistant nephrotic syndrome, thrombocytopenia, thrombotic microangiopathy, tuberous sclerosis, uremia, urinary system disorder, vascular disorder, vasculitis | Recruiting | Not stated | 2023-10-04 | NCT06065852 |