Table 1.
A summary of approved and investigational treatment modalities for some rare diseases.
| Disease State | Approved Treatments | Investigational Treatments |
|---|---|---|
| Multiple sclerosis | Ofatumumab (monoclonal antibody)127 | Fenebrutinib (small molecule)128 |
| Primary biliary cholangitis | Obeticholic acid (small molecule)129 | Elafibranor (small molecule)130 |
| Cystic Fibrosis | Elexacaftor-tezacaftor-ivacaftor (small molecules)40 | Approved CFTR modulators are being studies for non-approved cystic fibrosis genes.131 |
| Hemophilia | Emicizumab-kxwh (monoclonal antibody)132 | Valoctocogene roxaparvovec (gene therapy)133 |
| Narcolepsy | Pitolisant and Solriamfetol (small molecules)134 | FT218, JZP-258, reboxetine, and THN102 (small molecules).134 |
| Spinal muscular atrophy | Onasemnogene abeparvovec-xioi (gene therapy)37, risdiplam (small molecule)135, nusinersen (oligonucleotide)136 | SRK-015 (monoclonal antibody)137 |
| Osteogenesis imperfecta | Bisphosphonates (small molecules)134 | Somatropin (growth hormone)27 |
| Sickle cell anemia | Hydroxyurea (small molecule)134 | LentiGlobin BB305 (gene therapy), ARU-1801 (gene therapy)29 |
| Huntington Disease | Tetrabenazine (small molecule)134 | Cellavita HD (stem-cell therapy)28 |
| Amyotrophic lateral sclerosis |
Riluzole (small molecule)138 | Autologous MSC-NTF cells (stem-cell therapy)139 |