Ultragenyx Pharmaceutical Inc. is a biopharmaceutical company headquartered in Novato, California, focused on developing novel therapies for rare and ultra-rare diseases. The company was founded in 2010 by Dr. Emil D. Kakkis with a mission to bring life-changing therapies to patients who have no treatment options.
Ultragenyx specializes in developing treatments for rare genetic diseases, many of which affect the nervous system. The company uses multiple technology platforms including gene therapy, mRNA therapy, and small molecule approaches to address these unmet medical needs[1].
Ultragenyx was founded in 2010 by Dr. Emil D. Kakkis, a pediatrician and pharmaceutical executive with deep expertise in rare disease drug development. The company initially focused on building a pipeline of therapies for ultra-rare metabolic and neurological disorders.
| Product | Indication | Mechanism |
|---|---|---|
| Evrysdi | Spinal muscular atrophy | SMN2 splicing modifier |
| Waylivra | Familial chylomicronemia syndrome | Antisense oligonucleotide |
| Drug Candidate | Indication | Stage | Mechanism |
|---|---|---|---|
| UX143 (Atidarsagene autotemcel) | MPS IIIA (Sanfilippo A) | Phase 2/3 | AAV gene therapy |
| UX007 (Triheptanoin) | Long-chain fatty acid oxidation disorders | Approved (2023) | Medium-chain triglyceride |
| UX071 | PKU | Preclinical | Gene therapy |
| Drug Candidate | Indication | Stage | Mechanism |
|---|---|---|---|
| UX143 | Sanfilippo syndrome A | Phase 2/3 | AAV gene therapy |
| UX053 | GLUT1 deficiency | Phase 1/2 | Gene therapy |
Ultragenyx addresses several rare neurological and neurodegenerative conditions[5]:
Sanfilippo syndrome is a lysosomal storage disorder causing severe neurodegeneration in children:
GLUT1 deficiency causes seizures and movement disorders due to impaired glucose transport into the brain:
Ultragenyx uses adeno-associated virus (AAV) vectors for gene therapy:
The company is developing mRNA therapies:
Ultragenyx has established strategic partnerships:
Regeneron: mRNA therapy collaboration
Kyowa Kirin: Crysvita commercialization partnership
Multiples academic collaborations: For rare disease research
GLUT1 Deficiency
X-Linked Hypophosphatemia
Ultragenyx Pipeline. Corporate Presentation. ↩︎
Ultragenyx Gene Therapy Programs. Pipeline Overview. ↩︎