peroxisomal disorders (PDs) (DBCOND0101392)

Identifiers

Synonyms

Peroxisomal Disorders / Peroxisomal Disorder / Peroxisomal disorder, unspecified / Disorder of peroxisomal function (disorder)

Associated Data

Indicated Drugs and Targets

Drug	Description	Targets
Cholic Acid	A bile acid used for the treatment of bile acid synthesis disorders due to single enzyme defects and as an adjunctive treatment of peroxisomal disorders with disrupted liver function.	Ferrochelatase, mitochondrialtarget Bile salt export pumptransporter ATP-dependent translocase ABCB1transporter Multidrug resistance-associated protein 1transporter Solute carrier organic anion transporter family member 1A2transporter Ileal sodium/bile acid cotransportertransporter ATP-binding cassette sub-family C member 2transporter Solute carrier organic anion transporter family member 1B1transporter ATP-binding cassette sub-family C member 3transporter ATP-binding cassette sub-family C member 4transporter Hepatic sodium/bile acid cotransportertransporter Organic anion transporter 3transporter Solute carrier family 22 member 7transporter Solute carrier organic anion transporter family member 1B3transporter Alcohol dehydrogenase 1Ctarget Estrogen-related receptor gammatarget Gastrotropintarget Cytochrome c oxidase subunit 4 isoform 1, mitochondrialtarget Cytochrome c oxidase subunit 1target Cytochrome c oxidase subunit 2target Cytochrome c oxidase subunit 3target Cytochrome c oxidase subunit 5A, mitochondrialtarget Cytochrome c oxidase subunit 5B, mitochondrialtarget Cytochrome c oxidase subunit 6Ctarget Cytochrome c oxidase subunit 7B, mitochondrialtarget Cytochrome c oxidase subunit 7C, mitochondrialtarget Cytochrome c oxidase subunit 8A, mitochondrialtarget Cytochrome c oxidase subunit 6A2, mitochondrialtarget Cytochrome c oxidase subunit 6B1target Cytochrome c oxidase subunit 7A1, mitochondrialtarget Phospholipase A2target Liver carboxylesterase 1target Fatty acid-binding protein, livercarrier Choloylglycine hydrolasetarget Bile acid receptortarget G-protein coupled bile acid receptor 1target

Clinical Trials

Identifier	Title	Drug(s)	Purpose	Phase	Status
NCT00004348	Study of Protein Translocation in Patients With Beta-Oxidation Disorders	No drug interventions	Not Available	Not Available	completed
NCT00007020	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid	Cholic Acid	treatment	3	completed
NCT02171104	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis	No drug interventions	treatment	2	recruiting
NCT03163771	Evaluation of a New Strategy for the Diagnosis of Peroxisomal Diseases	No drug interventions	Not Available	Not Available	recruiting
NCT01043640	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders	Alemtuzumab Busulfan Cyclophosphamide Cyclosporine Mycophenolate mofetil	treatment	2	completed
NCT01626092	Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders	Alemtuzumab Clofarabine Cyclosporine Melphalan Mycophenolate mofetil	treatment	Not Available	completed