Orphan drugs & the WBM
Which drugs in the VMH catalogue are orphan drugs (rare-disease therapies), which inherited metabolic diseases (IMDs) they treat, and whether the whole-body models cover those diseases — a disease is WBM-coveredwhen its causal gene appears in a WBM reaction. The chain is orphan drug → IMD → gene → WBM.
Research & education over a public knowledge base — not clinical, diagnostic, or individual guidance. Point-in-time snapshot (analysis 2026-07-15).
Orphan drug → IMD → WBM
Orphan drugs matched to the IMD they treat (Gahl OJRD-2021 → reconws_diseases), with the disease's causal gene and whether the WBM covers it. 15 drugs matched a target IMD (6 treat a WBM-covered disease); name-matching is lossy, so this is a lower bound.
| Orphan drug | Class | Treats (IMD) | Disease gene | WBM covers | Approvals |
|---|---|---|---|---|---|
| Betaine | IMD | Homocystinuria [HCYS] | CBS | ✓ | FDA, EMA |
| Mercaptamine | metabolic | Nephropathic cystinosis [NEPHR] | CTNS | ✓ | FDA, EMA |
| Migalastat | IMD | Fabry disease (alphagalactosidase A deficiency) [FD] | GLA | ✓ | FDA, EMA |
| Nitisinone | IMD | Tyrosinemia type 1 [TYR1] | FAH | ✓ | FDA, EMA |
| Nitisinone | IMD | Alkaptonuria [AKU] | HGD | ✓ | EMA |
| Sapropterin | IMD | Hyperphenylalaninemia [MPKU] | PAH | ✓ | FDA, EMA, NMPA |
| Sapropterin | IMD | PKU [PKU] | PAH | ✓ | MetabERN |
| Uridine triacetate | IMD | Hereditary orotic aciduria [OROA] | UMPS | ✓ | FDA |
| Alendronic acid | metabolic | Osteogenesis imperfecta [OI3] | COL1A1, | — | NMPA |
| Cholic acid | IMD | Cholesterol and bile acid synthesis defects [CBAS] | — | — | FDA, EMA, NMPA |
| Eliglustat | IMD | Gaucher disease [GD1] | GBA | — | FDA, EMA |
| Hydroxocobalamin | IMD | Cobalamin defects [LMBRD1] | LMBRD1 | — | FDA |
| Lomitapide | IMD | Homozygous familial hypercholesterolemia [FAMIL4] | LDLR | — | FDA, EMA |
| Miglustat | IMD | Gaucher disease [GD1] | GBA | — | FDA, EMA, NMPA |
| Pegvaliase | IMD | Phenylketonuria [PKUA] | — | — | FDA, EMA |
| Penicillamine | IMD | Wilson disease [ATP7B] | ATP7B | — | NMPA |
| Zinc acetate | IMD | Wilson disease [ATP7B] | ATP7B | — | FDA, EMA |
Mechanistic drug ↔ IMD links (shared target gene)
Beyond the curated indications above, any catalogue drug whose DrugCentral target gene is the causal gene of an IMD is mechanistically linked to that disease — an ID-based link (via reconws_drug_target), far larger than the 15 name-matched ones. 971 drugs link to an IMD; 593 to a WBM-covered IMD (1560 links, shown below). “Shares a target gene” is a mechanistic relationship, not necessarily a therapy — read the action (an inhibitor of the deficient enzyme is not a treatment for its deficiency).
Target genes from DrugCentral (CC BY-SA); IMD causal genes from reconws_diseases; WBM coverage = the gene is in a WBM reaction (models 3/4/187/188). MoA = DrugCentral mechanism-of-action target.
All orphan drugs in the catalogue
Orphan drugs flagged in reconws_drug_catalog (migration 085) from the OrphanDrugs compilation (OrphanDrugs compilation (Gahl OJRD-2021, Miller OJRD/T&F-2022, Heard OJRD-2020) + FDA/EMA orphan designations). Class: IMD = treats an inherited metabolic disease · metabolic = metabolic-disease orphan (MD-ORP) · orphan = other rare-disease orphan. Target-IMD links are from the Gahl metabolic drug→disorder table matched to reconws_diseases by name/synonym (a lower bound). WBM coverage = the disease's causal gene is in a WBM reaction GPR (models 3/4/187/188).