Table 1.
List of essential medicinal products for rare diseases
| Condition | Drug | Approvals | WHO | |
|---|---|---|---|---|
| Metabolic | ||||
| Aminoacid Disorders | ||||
| Urea cycle disorders | Benzoate and phenylacetate | FDA | ||
| Sodium phenylbutyrate | FDA, EMA | |||
| N-acetylglutamate synthetase deficiency | Carglumic acid | FDA, EMA | ||
| Homocystinuria | Betaine | FDA, EMA | ||
| Hyperphenylalaninemia | Sapropterin | FDA, EMA, NMPA | ||
| Tetrahydrobiopterin deficiency | Sapropterin | FDA, EMA, NMPA | ||
| Phenylketonuria | Pegvaliase | FDA, EMA | ||
| Tyrosinemia type 1 | Nitisinone | FDA, EMA | ||
| Alkaptonuria | Nitisinone | EMA | ||
| Lysosomal Storage Diseases | ||||
| Gaucher disease | Miglustat | FDA, EMA, NMPA | ||
| Eliglustat | FDA, EMA | |||
| Velaglucerase alfa | FDA, EMA | |||
| Imiglucerase | FDA, EMA, NMPA | |||
| Taliglucerase | FDA, EMA | |||
| Fabry disease (alphagalactosidase A deficiency) | Agalsidase beta | EMA, NMPA | ||
| Agalsidase alfa | EMA, NMPA | |||
| Migalastat | FDA, EMA | |||
| Lysosomal acid lipase deficiency, Wolman disease, Cholesteryl ester storage disease | Sebelipase alfa | FDA, EMA | ||
| Pompe disease | Alglucosidase alfa | FDA, EMA, NMPA | ||
| Alpha mannosidosis | Velmanase alfa | EMA | ||
| Mucopolysaccharidosis I (Iduronidase deficiency) | Laronidase | EMA, NMPA | ||
| Hunter syndrome (Mucopolysaccharidosis II) | Idursulfase | FDA, EMA, NMPA | ||
| Mucopolysaccharidosis IV (Morquio A syndrome) | Elosulfase alfa | FDA, EMA, NMPA | ||
| Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) | Galsulfase | EMA | ||
| Mucopolysaccharidosis VII (Sly syndrome) | Vestronidase alfa | FDA, EMA | ||
| Neuronal ceroid lipofuscinosis type 2 | Cerliponase alfa | FDA, EMA | ||
| Nephropathic cystinosis | Cysteamine | FDA, EMA | ||
| Cysteamine (enteric coated) | FDA, EMA | |||
| Cysteamine hydrochloride eyedrops | FDA, EMA | |||
| Cholesterol, Lipid, Fatty Acid Disorders | ||||
| Homozygous familial hypercholesterolemia | Evolocumab | FDA, EMA, NMPA | ||
| Rosuvastatin calcium | FDA, NMPA | |||
| Lomitapide | FDA, EMA | |||
| Cholesterol and bile acid synthesis defects | Cholic acid | FDA, EMA, NMPA | ||
| Cerebrotendinous xanthomatosis | Chenodeoxycholic acid | EMA | ||
| Familial chylomicronemia syndrome | Volanesorsen | EMA | ||
| Congenital or hereditary chronic cholestasis | Tocofersolan | EMA | ||
| Other Metabolic Disorders | ||||
| Pediatric onset hypophosphatasia | Asfotase alfa | FDA, EMA | ||
| Hypophosphatemic rickets (x-Linked) | Burosumab-twza | FDA, EMA | ||
| Hyperphosphatemia in renal failure | Calcium acetate | FDA | ||
| Osteogenesis imperfecta | Alendronate | NMPA | ||
| Scurvy | Ascorbic acid | FDA | WHO | |
| Metabolic acidosis | Thiamine | EMA | WHO | |
| Trisodium citrate | EMA | |||
| Genetic carnitine deficiency | Levocarnitine | FDA, NMPA | ||
| Fatty acid oxidation disorders | Triheptanoin | FDA | ||
| Acyl Coenzyme A dehydrogenase deficiency | Riboflavin | EMA | WHO | |
| Hereditary orotic aciduria | Uridine triacetate | FDA | ||
| Prevention of uric acid nephrolithiasis | Potassium citrate | FDA | ||
| Prevention of cystine nephrolithiasis (cystinuria) | Tiopronin | FDA | ||
| Wilson disease | Penicillamine | NMPA | WHO | |
| Trientine HCl | FDA, EMA | |||
| Zinc acetate | FDA, EMA | |||
| Cobalamin defects | Hydroxocobalamin | FDA | WHO | |
| Neurologic | ||||
| General | ||||
| Transthyretin amyloidosis | Inotersen | FDA, EMA | ||
| Tafamidis | FDA, EMA | |||
| Patisiran sodium | FDA, EMA | |||
| Multiple Sclerosis | Teriflunomide | EMA, NMPA | ||
| Fingolimod HCl | EMA, NMPA | |||
| Siponimod | NMPA | |||
| Parkinson Disease (Young and Early-onset) | Rasagiline | EMA, NMPA | ||
| Selegiline | FDA, EMA, NMPA | |||
| Pramipexole | EMA, NMPA | |||
| Carbidopa/Levodopa | FDA, EMA | WHO | ||
| Narcolepsy with cataplexy | Pitolisant | FDA, EMA | ||
| Sodium oxybate | FDA, EMA | |||
| Huntington Disease | Deutetrabenazine | NMPA | ||
| Tetrabenazine | FDA, EMA | |||
| Dystonia, Spasticity | Baclofen | FDA | ||
| Tuberous Sclerosis Complex | Everolimus | FDA, EMA | ||
| Spina bifida (prevention) | Folic acid | EMA | WHO | |
| Biotinidase deficiency | Biotin | NMPA | ||
| Epilepsy | ||||
| Infantile spasms | Vigabatrin | FDA, EMA | ||
| Lennox-Gastaut syndrome | Rufinamide | FDA, EMA | ||
| Cannabidiol | FDA, EMA | |||
| Severe myoclonic epilepsy in infancy (Dravet syndrome) | Stiripentol | FDA, EMA | ||
| Status epilepticus | Midazolam | FDA | WHO | |
| Juvenile myoclonic epilepsy, Generalized epilepsy | Levetiracetam | EMA | ||
| Complex and rare disease epilepsy | Clobazam | FDA | ||
| Lamotrigine | FDA | WHO | ||
| Topiramate | FDA | |||
| Neuromuscular Diseases | ||||
| Amyotrophic lateral sclerosis | Gabapentin | FDA | ||
| Riluzole | FDA, EMA, NMPA | |||
| Radicava | NMPA | |||
| Myasthenia gravis | Pyridostigmine Bromide | NMPA | WHO | |
| Lambert-Eaton myasthenic syndrome | Amifampridine | EMA | ||
| Non-dystrophic myotonic disorders | Mexiletine hcl | EMA | ||
| 5q Spinal Muscular Atrophy | Nusinersen sodium | FDA, EMA, NMPA | ||
| Hematologic | ||||
| Coagulation Defects | ||||
| Hemophilia A (Factor VIII deficiency) | Octocog alpha | EMA | ||
| Rurioctocog alfa pegol | EMA | |||
| Lonoctocog alfa | EMA | |||
| Emicizumab | FDA, EMA, NMPA | |||
| Damoctocog alfa pegol | EMA | |||
| Turoctocog alpha | EMA | |||
| Simoctocog alfa | EMA | |||
| Moroctocog alpha | EMA | |||
| Desmopressin acetate | FDA, EMA | WHO | ||
| Recombinant Factor VIII | EMA, NMPA | |||
| Efmoroctocog alfa | EMA | |||
| von Willebrand disease | Factor VIII/ von Willebrand factor | EMA | ||
| Vonicog alfa | EMA | |||
| Hemophilia B (Factor IX deficiency) | Eftrenonacog alfa | EMA | ||
| Albutrepenonacog alfa | EMA | |||
| Nonacog alpha | EMA | |||
| Human coagulation factor IX | EMA | WHO | ||
| Nonacog beta pegol | EMA | |||
| Nonacog gamma | EMA | |||
| Recombinant Factor IX | EMA, NMPA | |||
| Hemophilia (Factor VII deficiency) | Eptacog alpha (activated) | EMA | ||
| Recombinant Factor VIIa | EMA | |||
| Factor X deficiency | Human coagulation factor X | EMA | ||
| Factor XIII A-subunit deficiency | Catridecacog | EMA | ||
| Protein C deficiency | Human protein c | EMA | ||
| Anemias | ||||
| Sickle cell anemia | Hydroxyurea | FDA | ||
| Anemia of end-stage renal disease | Epoetin alfa | FDA | WHO | |
| Idiopathic thrombocytopenic purpura, Aplastic anemia | Eltrombopag | FDA, EMA | ||
| Beta thalassemia major | Deferasirox | FDA, EMA, NMPA | ||
| Other Hematologic Disorders | ||||
| Congenital and acquired methemoglobinemia | Methylene blue injection | FDA | ||
| Acute intermittent porphyria | Hemin | FDA | ||
| Erythropoietic protoporphyria | Afamelanotide | FDA, EMA | ||
| Multicentric Castleman’s disease | Siltuximab | FDA, EMA | ||
| Essential thrombocythemia | Anagrelide hydrochloride | FDA, EMA | ||
| Paroxysmal nocturnal hemoglobinuria | Ravulizumab | FDA, EMA | ||
| Severe congenital neutropenia | Macapegfilgrastim | NMPA | ||
| Conditioning for hematopoietic stem cell transplant | Busulfan | FDA, EMA | ||
| Thiotepa | FDA, EMA | |||
| Iron overload | Deferiprone | FDA, EMA | ||
| Acquired thrombotic thrombocytopenic purpura | Caplacizumab | FDA, EMA | ||
| Immune (idiopathic) thrombocytopenic purpura | Romiplostim | FDA, EMA | ||
| Polycythemia vera | Ropeginterferon alfa-2b | EMA | ||
| Ruxolitinib | FDA, EMA | |||
| Agammaglobulinemia | Immunoglobulin infusion | NMPA | ||
| Inflammatory | ||||
| Rheumatoid Arthritis | ||||
| Juvenile rheumatoid arthritis | Methotrexate | FDA, EMA | WHO | |
| Etanercept | FDA, EMA | |||
| Methylprednisolone | EMA | WHO | ||
| Adalimumab | FDA | |||
| Infliximab | FDA | |||
| Tocilizumab | FDA, EMA | |||
| Abatacept | EMA | |||
| Golimumab | FDA, EMA | |||
| Gastrointestinal Inflammation | ||||
| Pediatric Crohn's disease | Adalimumab | FDA | ||
| Infliximab | FDA | |||
| Pediatric ulcerative colitis | Mesalamine | FDA | ||
| 5-aminosalicylic acid | FDA | |||
| Adalimumab | FDA | |||
| Infliximab | FDA | |||
| Primary biliary cholangitis | Obeticholic acid | FDA, EMA | ||
| Hereditary chronic cholestasis | Tocofersolan | EMA | ||
| Angioedema | ||||
| Hereditary angioedema | C1 inhibitor(human) | EMA | ||
| Icatibant acetate | FDA, EMA | |||
| Lanadelumab | FDA, EMA, NMPA | |||
| Danazol | NMPA | |||
| Tranexamic acid | FDA, NMPA | WHO | ||
| Angioedema due to C1 esterase inhibitor deficiency | C1-esterase-inhibitor, human | FDA | ||
| Conestat alfa | EMA | |||
| Other Inflammatory Disorders | ||||
| Multiple sclerosis, Behcet's disease, Familial Mediterranean fever | Colchicine | FDA, NMPA | ||
| Dermatomyositis, Atypical hemolytic uremic syndrome, Neuromyelitis Optica, Paroxysmal nocturnal hemoglobinuria, Myasthenia gravis | Eculizumab | FDA, EMA, NMPA | ||
| Anti-neutrophil vasculitis, Wegener’s granulomatosis, Churg-Strauss Syndrome | Rituximab | FDA | WHO | |
| Familial Mediterranean fever, Cryopyrin fevers | Canakinumab | FDA, EMA, NMPA | ||
| Still's disease, Systemic juvenile arthritis | IL-1 Receptor antagonist anakinra | FDA, EMA | ||
| Neurotrophic keratitis | Cenegermin | FDA, EMA | ||
| Vernal keratoconjunctivitis | Ciclosporin | EMA | WHO | |
| Non-infectious uveitis | Dexamethasone | FDA, EMA | WHO | |
| Cryopyrin-associated periodic syndromes | Rilonacept | FDA, EMA | ||
| Endocrine | ||||
| Growth hormone deficiency in children | Somatropin for injection | FDA, EMA | ||
| Acromegaly | Octreotide | FDA | ||
| Lanreotide | FDA | |||
| Pegvisomant | FDA, EMA | |||
| Pasireotide | FDA, EMA | |||
| Endogenous Cushing’s syndrome | Osilodrostat | FDA, EMA | ||
| Ketoconazole | EMA | |||
| Adrenal insufficiency | Hydrocortisone | FDA, EMA, NMPA | WHO | |
| Idiopathic Hypogonadotropic Hypogonadism | Human chorionic gonadotropin | EMA, NMPA | ||
| Gonadotropin-releasing hormone | EMA, NMPA | |||
| Primary insulin-like growth factor-1 deficiency | Mecasermin | FDA, EMA | ||
| Paget's disease (osteitis deformans) | Calcitonin-human for injection | FDA | ||
| Hypoparathyroidism | Parathyroid hormone | FDA, EMA | ||
| Non-24-h sleep–wake disorder | Tasimelteon | FDA, EMA | ||
| Leptin deficiency in lipodystrophy patients | Metreleptin | FDA, EMA | ||
| Familial partial lipodystrophy | Metreleptin | EMA | ||
| Pulmonary | ||||
| Pulmonary arterial hypertension | Macitentan | FDA, EMA, NMPA | ||
| Tadalafil | FDA, EMA | |||
| Ambrisentan | FDA, EMA, NMPA | |||
| Nitric oxide | FDA, EMA | |||
| Sildenafil | EMA, NMPA | |||
| Bosentan monohydrate | FDA, EMA, NMPA | |||
| Selexipag | FDA, EMA, NMPA | |||
| Iloprost | FDA, EMA, NMPA | |||
| Parenteral treprostinil | FDA, EMA, NMPA | |||
| Riociguat | FDA, EMA, NMPA | |||
| Cystic fibrosis | Mannitol | FDA, EMA | WHO | |
| Ivacaftor | FDA, EMA | |||
| Tezacaftor/ivacaftor | FDA, EMA | |||
| Tobramycin | FDA, EMA | |||
| Aztreonam | FDA, EMA | |||
| Colistimethate sodium | EMA | |||
| Lumacaftor / ivacaftor | FDA, EMA | |||
| Levofloxacin | EMA | WHO | ||
| Idiopathic Pulmonary Fibrosis | Pirfenidone | FDA, EMA | ||
| Nintedanib | FDA, EMA, NMPA | |||
| Primary apnea of premature newborns | Caffeine citrate | FDA, EMA | WHO | |
| Lymphangioleiomyomatosis, Tuberous sclerosis | Sirolimus | FDA, EMA | ||
| Immunologic | ||||
| Severe combined immunodeficiency, Adenosine deaminase deficiency | Pegademase bovine | FDA | ||
| CD34 + cells transduced with ADA cDNA | EMA | |||
| Chronic granulomatous disease | Interferon gamma 1-b | FDA | ||
| Miscellaneous | ||||
| Mastocytosis | Cromolyn sodium | FDA | ||
| Ventricular tachycardia | Amiodarone | FDA | WHO | |
| Limbal stem cell deficiency | Autologous human corneal stem cells | EMA | ||
| Inherited retinal dystrophy | Voretigene neparvovec | FDA, EMA | ||
| Short bowel syndrome | Teduglutide | FDA, EMA | ||
| Hepatic veno-occlusive disease, Sinusoidal obstruction | Defibrotide | FDA, EMA | ||
| Autosomal dominant polycystic kidney disease | Tolvaptan | FDA, EMA | ||
| Patent ductus arteriosus | Ibuprofen | FDA, EMA | WHO | |
| Anthracycline extravasation | Dexrazoxane | FDA, EMA |
List of 204 essential medicinal products for rare diseases with marketing authorization extracted from the FDA database and/or EMA database and/or Chinas’s Rare Diseases Catalog