Nonsense Mutation ADPKD (NM-ADPKD)
ADPKD is the most common inherited kidney disease. In ~26% of patients whose disease is caused by a nonsense mutation in PKD1 or PKD2, exaluren may address the genetic root cause. A dedicated clinical program is in planning.
Understanding NM-ADPKD
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2, encoding polycystin-1 and polycystin-2 — proteins that suppress cyst formation in kidney tubules. Approximately 25–33% of PKD1 and PKD2 mutations are nonsense mutations.
Patients with nonsense mutations in PKD1 reach kidney failure significantly earlier than those with other mutation types (Cornec-Le Gall et al. 2013, JASN). Without functional polycystin, fluid-filled cysts grow throughout both kidneys, causing progressive enlargement and loss of function. The only approved therapy (tolvaptan) does not address the genetic cause.
Healthy kidney vs. polycystic kidney (top). ADPKD cyst formation mechanism (bottom).
Cornec-Le Gall et al. 2013, JASN — nonsense mutations in PKD1 are associated with significantly earlier kidney failure compared to other mutation types.
Living with ADPKD and a nonsense mutation
If you have ADPKD and genetic testing has identified a nonsense mutation in PKD1 or PKD2, connect with patient advocacy organizations and speak with your nephrologist about genetic testing and future research opportunities.
Patient advocacy & support
The PKD Foundation offers community, research updates, and specialist connections for people living with ADPKD and their families.
Clinical program in planning
Eloxx is advancing a dedicated clinical program for nonsense mutation ADPKD. No trial is currently enrolling. Patients with a confirmed PKD1 or PKD2 nonsense mutation should speak with their nephrologist about genetic testing and future research opportunities.
ADPKD clinical program: planning underway
Eloxx is developing a dedicated clinical study of exaluren in patients with nonsense mutation ADPKD. We will announce the study and share site information as the program advances. To stay informed or enquire about the program, please contact us.
Contact Eloxx →