d-bifunctional protein deficiency | ClinicalTrials HQ

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Trial	Conditions	Status	Phase	Updated	More info	NCT ID
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	Abnormalities, Multiple, Adrenoleukodystrophy, Neonatal, Bone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Hereditary Central Nervous System Demyelinating Diseases, Hurler syndrome, Krabbe disease, Leukoencephalopathies, Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Nervous System, Male Urogenital Diseases, Mannosidase Deficiency Diseases, Mucopolysaccharidosis I, Neurobehavioral Manifestations, Neurologic Manifestations, Nutritional and Metabolic Diseases, Peroxisomal Disorders, Refsum Disease, Infantile, Skin and Connective Tissue Diseases, Sulfatidosis, Urogenital Diseases, X-linked disease, Zellweger spectrum disorders, alpha-mannosidosis, alpha-methylacyl-CoA racemase deficiency, aspartylglucosaminuria, bone disorder, brain disorder, central nervous system disorder, connective tissue disorder, cutaneous mucinosis, d-bifunctional protein deficiency, demyelinating disease, fucosidosis, hereditary disease, inborn carbohydrate metabolic disorder, inborn errors of metabolism, inherited neurodegenerative disorder, intellectual disability, kidney disorder, leukoencephalopathy, diffuse hereditary, with spheroids 1, liver disorder, lysosomal lipid storage disorder, lysosomal storage disease, metabolic disease, metachromatic leukodystrophy, mitochondrial neurogastrointestinal encephalomyopathy, mucopolysaccharidosis, mucopolysaccharidosis type 2, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, musculoskeletal system disorder, nervous system disorder, osteochondrodysplasia, osteopetrosis, osteosclerosis, peroxisomal acyl-CoA oxidase deficiency, sphingolipidosis, urinary system disorder	Active, not recruiting	Phase 2	2026-01-07		NCT02171104
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)	Abnormalities, Multiple, Bone Diseases, Developmental, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Female Urogenital Diseases, Female Urogenital Diseases and Pregnancy Complications, Male Urogenital Diseases, Nutritional and Metabolic Diseases, Peroxisomal Disorders, Urogenital Diseases, Zellweger spectrum disorders, adult Refsum disease, alpha-methylacyl-CoA racemase deficiency, bone disorder, brain disorder, central nervous system disorder, central nervous system malformation, chondrodysplasia punctata, d-bifunctional protein deficiency, hereditary disease, hereditary motor and sensory neuropathy, inborn errors of metabolism, inherited neurodegenerative disorder, kidney disorder, liver disorder, metabolic disease, musculoskeletal system disorder, nervous system disorder, neurodegenerative disease, neuromuscular disease, osteochondrodysplasia, peripheral nervous system disorder, peroxisomal acyl-CoA oxidase deficiency, peroxisome biogenesis disorder, polyneuropathy, rhizomelic chondrodysplasia punctata, rhizomelic chondrodysplasia punctata type 1, sterol carrier protein 2 deficiency, urinary system disorder	Recruiting	Not stated	2025-12-10		NCT01668186