Rare genetic and metabolic diseases
26 public biotech companies we cover are developing treatments for enzyme deficiencies, lysosomal storage diseases, ATTR amyloidosis and other inherited conditions. 15 upcoming catalysts are listed below, with dates as the companies gave them.
Companies
- Agios Pharmaceuticals (AGIO)Thesis Challenged
Phenylketonuria
- Amylyx Pharmaceuticals (AMLX)Thesis Intact
Wolfram syndrome
- Arrowhead Pharmaceuticals (ARWR)Thesis Intact
Alpha-1 antitrypsin deficiency
- Ascendis Pharma (ASND)Thesis Challenged
Turner syndrome
- Avalo Therapeutics (AVTX)Thesis Intact
Mitochondrial disorder
- Boundless Bio (BOLD)Thesis Broken
Alpha-1 antitrypsin deficiency
- ClearPoint Neuro (CLPT)Thesis Challenged
Aromatic l-amino acid decarboxylase deficiency
- CRISPR Therapeutics (CRSP)Thesis Intact
Alpha-1 antitrypsin deficiency
- Faeth Therapeutics (FTH)Thesis Intact
Hereditary tyrosinemia type 1
- Intellia Therapeutics (NTLA)Thesis Intact
Hereditary angioedema
- Ionis Pharmaceuticals (IONS)Thesis Intact
Hereditary angioedema
- Kiniksa Pharmaceuticals International (KNSA)Thesis Intact
Deficiency of interleukin-1 receptor antagonist
- Palatin Technologies (PTN)Thesis Challenged
Bardet-biedl syndrome
- Palvella Therapeutics (PVLA)Thesis Intact
Microcystic lymphatic malformations
- Precision BioSciences (DTIL)Thesis Intact
Neonatal OTC deficiency, Ornithine transcarbamylase deficiency
- Prime Medicine (PRME)Thesis Challenged
Wilson disease, Wilson's Disease, Alpha-1 antitrypsin deficiency
- ProQR Therapeutics (PRQR)Thesis Intact
Hurler syndrome, Mucopolysaccharidosis type i
- Protalix BioTherapeutics (PLX)Thesis Intact
Fabry disease, Gaucher disease
- Protara Therapeutics (TARA)Thesis Intact
Choline deficiency, Lymphatic malformations
- Quoin Pharmaceuticals (QNRX)Thesis Intact
Gorlin syndrome, Netherton Syndrome, Venous Malformations, Microcystic Lymphatic Malformations
- Rezolute (RZLT)Thesis Challenged
Congenital hyperinsulinism
- Spruce Biosciences (SPRB)Thesis Intact
Mucopolysaccharidosis type iiib
- Tectonic Therapeutic (TECX)Thesis Intact
Hereditary hemorrhagic telangiectasia
- Travere Therapeutics (TVTX)Thesis Intact
Classical homocystinuria
- Ultragenyx Pharmaceutical (RARE)Thesis Challenged
Wilson disease, Mucopolysaccharidosis type vii, Mucopolysaccharidosis type iiia, Glycogen storage disease type ia, and 3 more
- uniQure (QURE)Thesis Challenged
Fabry disease
Drug pages
Upcoming catalysts
Firm dates · a specific day set by the company or regulator
Later
- Mar 10in 136 daysLonvo-z · FDA decision · Hereditary angioedema
Estimated timing · a month, quarter, half-year or year-end the company gave
Expected in Q4 2026
- Q4 2026UX701 · Results · Wilson disease
- Q4 2026TA-ERT · BLA submission · Mucopolysaccharidosis Type IIIB (MPS IIIB)
- Q4 2026TA-ERT · Trial start (TrAnsform) · Mucopolysaccharidosis Type IIIB (MPS IIIB) · severe
Expected in H2 2026
- H2 2026AG-181 · Phase 1b results · Phenylketonuria
- H2 2026PM577 · Phase 1 interim results · Wilson's Disease
- H2 2026QTORIN rapamycin · NDA submission · Microcystic lymphatic malformations
- H2 2026Topical rapamycin · Trial start · Microcystic Lymphatic Malformations · Venous Malformations
- H2 2026QRX003 · Phase 3 start · Netherton Syndrome
Expected by end of 2026
- by year-end 2026TX2100 · Phase 2 start · Hereditary hemorrhagic telangiectasia
Expected by end of March 2027
- early 2027AX-0422 · CTA submission · Hurler syndrome · MPS I
Expected in Q2 2027
- Q2 2027QRX003 · Phase 3 topline results (CL-QRX003-004) · Netherton Syndrome
Expected in H1 2027
- H1 2027AX-0422 · Phase 1 interim results · Hurler syndrome · liver
- H1 2027QTORIN rapamycin · FDA decision · Microcystic lymphatic malformations
- H1 2027DTX301 · Phase 3 results · Ornithine Transcarbamylase (OTC) deficiency