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 |