Therapy area
Rare diseases and enzyme replacement
ATC groups A16, M09AX
- Molecules
- 56
- Current shortages
- 0
Enzyme replacement therapies and other medicines for rare metabolic and genetic diseases.
Molecules
56 molecules, most requested first.
- Delandistrogene moxeparvovecBiologic1 presentation1 brandM09AX15
- SapropterinOrphanPhenylalanine Hydroxylase Activator11 presentations5 brandsA16AX07
- NitisinoneOrphan4-Hydroxyphenyl-Pyruvate Dioxygenase Inhibitor13 presentations5 brandsA16AX04
- Onasemnogene abeparvovecOrphan2 presentations4 brandsM09AX09
- Sodium phenylbutyrateOrphanNitrogen Binding Agent7 presentations5 brandsA16AX03
- Glycerol phenylbutyrateOrphanNitrogen Binding Agent2 presentations2 brandsA16AX09
- CysteamineOrphanCystine Depleting Agent8 presentations4 brandsA16AA04
- MiglustatOrphanGlucosylceramide Synthase Inhibitor4 presentations8 brandsA16AX06
- TrientineOrphanCopper Chelator3 presentations3 brandsA16AX12
- PalovaroteneOrphanRetinoid5 presentations1 brandM09AX11
- Carglumic acidOrphanCarbamoyl Phosphate Synthetase 1 Activator2 presentations2 brandsA16AA05
- Asfotase alfaOrphanTissue-nonspecific Alkaline Phosphatase4 presentations2 brandsA16AB13
- GlutamineAmino Acid2 presentations1 brandA16AA03
- SepiapterinOrphan2 presentations2 brandsA16AX28
- PegvaliaseOrphanPhenylalanine Metabolizing Enzyme3 presentations2 brandsA16AB19
- NusinersenOrphanAntisense Oligonucleotide3 presentations2 brandsM09AX07
- BetaineOrphanMethylating Agent2 presentations2 brandsA16AA06
- Pegunigalsidase alfaBiologic2 presentations2 brandsA16AB20
- TeduglutideOrphanAnalogs/Derivatives [Chemical/Ingredient]2 presentations3 brandsA16AX08
- Uridine triacetateOrphanAnalogs/Derivatives [Chemical/Ingredient]2 presentations2 brandsA16AX13
- EteplirsenOrphanAntisense Oligonucleotide2 presentations1 brandM09AX06
- Olipudase alfaOrphan2 presentations2 brandsA16AB25
- RisdiplamOrphanSurvival of Motor Neuron 2 Splicing Modifier2 presentations2 brandsM09AX10
- Cipaglucosidase alfaOrphanHydrolytic Lysosomal Glycogen-specific Enzyme1 presentation2 brandsA16AB
- Velmanase alfaOrphan1 presentation2 brandsA16AB15
- PegzilarginaseOrphan2 presentations1 brandA16AB24
- Agalsidase betaOrphanHydrolytic Lysosomal Neutral Glycosphingolipid-specific Enzyme1 presentation2 brandsA16AB04
- EliglustatOrphanGlucosylceramide Synthase Inhibitor1 presentation2 brandsA16AX10
- SacrosidaseOrphanSucrose-specific Enzyme1 presentation1 brandA16AB06
- Telotristat ethylOrphanTryptophan Hydroxylase Inhibitor1 presentation2 brandsA16A
- Alglucosidase alfaOrphanHydrolytic Lysosomal Glycogen-specific Enzyme1 presentation2 brandsA16AB07
- ApitegromabOrphan1 presentation1 brandM09AX
- Avalglucosidase alfaOrphanHydrolytic Lysosomal Glycogen-specific Enzyme1 presentation2 brandsA16
- Cerliponase alfaOrphan1 presentation2 brandsA16AB17
- Doxecitine and DoxribtimineOrphan1 presentation2 brandsA16AX29
- Eladocagene exuparvovecOrphan1 presentation2 brandsA16AB26
- Elosulfase alfaOrphanHydrolytic Lysosomal Glycosaminoglycan-specific Enzyme1 presentation2 brandsA16AB12
- FosdenopterinOrphanCyclic Pyranopterin Monophosphate1 presentation2 brandsA16AX19
- GalsulfaseOrphanHydrolytic Lysosomal Glycosaminoglycan-specific Enzyme1 presentation2 brandsA16AB08
- GivinostatOrphanHistone Deacetylase Inhibitor1 presentation1 brandM09AX14
- GivosiranOrphanAminolevulinate Synthase 1-directed RNA Interaction1 presentation2 brandsA16AX16
- IdursulfaseOrphanHydrolytic Lysosomal Glycosaminoglycan-specific Enzyme1 presentation2 brandsA16AB09
- ImigluceraseOrphanHydrolytic Lysosomal Glucocerebroside-specific Enzyme1 presentation2 brandsA16AB02
- LaronidaseOrphanHydrolytic Lysosomal Glycosaminoglycan-specific Enzyme1 presentation2 brandsA16AB05
- LumasiranOrphan1 presentation2 brandsA16AX18
- MetreleptinOrphanAnalogs/Derivatives [Chemical/Ingredient]1 presentation2 brandsA16AA07
- MigalastatOrphan1 presentation2 brandsA16AX14
- Taliglucerase alfaOrphanHydrolytic Lysosomal Glucocerebroside-specific Enzyme1 presentation1 brandA16AB11
- Velaglucerase alfaOrphanHydrolytic Lysosomal Glucocerebroside-specific Enzyme1 presentation2 brandsA16AB10
- Vestronidase alfaOrphanLysosomal beta Glucuronidase1 presentation2 brandsA16AB18
- Agalsidase alfa1 brandA16AB03
- LeriglitazoneOrphan1 brandA16AX23
- MercaptamineOrphan3 brandsA16AA04
- Sebelipase alfaOrphan1 brandA16AB14
- Spheroids of human autologous matrix-associated chondrocytesBiologic1 brandM09AX02
- Zinc1 brandA16AX05
Conditions
Acquired lipodystrophyBeta thalassemiaDuchenne muscular dystrophyFabry diseaseGaucher's diseaseGlycogen storage diseaseGlycogen storage disease IIHomocystinuriaLipid storage diseaseMucopolysaccharidosisMucopolysaccharidosis IMucopolysaccharidosis IIShort bowel syndromeSly syndromeSmall intestine carcinoid neuroendocrine tumorSpinal muscular atrophySplenic diseaseTyrosinemia type IIIUrea cycle disorder
Country notes
Import rules differ by country, for example permits for unregistered medicines or named-patient routes. Each country guide explains who applies, the documents needed and typical timelines.
All import guidesFor healthcare professionals and buyers. This is not medical advice. Treatment decisions belong to the prescriber.
Sourcing Rare diseases and enzyme replacement medicines?
Add the molecules you need to one request. We check each country's import rules before we quote.