Alnylam has provided updates about their programs for patients with primary hyperoxaluria type 1 (PH1), a rare condition that affects the kidneys and bladder. As part of their Alnylam Act® program, the company has announced that they will provide no-charge third-party genetic testing and counselling to people who may have mutations in the AGXT gene, which is associated with PH1. In addition, they have shared new details from studies of the investigational drug Lumasiran for PH1. For the full press release at Alnylam’s website, click here.
About Primary Hyperoxaluria Type 1 (PH1)
PH1 is a rare condition that can cause recurrent kidney and bladder stones, and, in some cases, leads to end-stage renal disease. The condition is caused by a genetic mutation that causes the overproduction of oxalate. Oxalate can combine with calcium to form a substance that is a key component in kidney and bladder stones.
The Alnylam Act® Program
Alnylam has announced that, through this program, they plan to provide no-charge third-party genetic testing and counselling for people who are suspected to have mutations in the AGXT gene, which is linked to PH1. The genetic testing is available to people in the US and Canada and needs to be ordered by a health professional, whereas the genetic counselling service is only available in the US. This program is designed to speed up the often difficult and prolonged path to diagnosis for patients with PH1, which could help people access treatment at an earlier stage.
Alnylam is also studying the investigational drug lumasiran for the treatment of people with PH1 and has provided updates about the development process. Lumasiran, previously known as ALN-GO1, is an RNAi therapeutic that targets glycolate oxidase (GO). RNAi works to silence genes and is a quickly developing branch of medicine. In lumasiran’s case, the therapy is thought to work by reducing levels of the GO enzyme, which could reduce the production of oxalate – a substance that plays a key role in PH1.
Research into Lumasiran
A spokesperson from Alnylam has said that the company hopes to assess the safety and effectiveness of the drug “across the full spectrum of age and disease severity.” As part of that plan, three studies are being carried out.
An on-going Phase 1/2 study of lumasiran is looking into the safety and effectiveness of the drug. New data from this study shows a 75% mean maximal reduction in plasma oxalate levels from baseline, and half of the patients reached plasma oxalate levels within the normal range. Urinary oxalate also showed reductions.
A Phase 2 open-label extension study also provides more data on lumasiran. The participants taking part in this study are reported to show results that are generally consistent with those from the Phase 1/2 study, and, as of 3rd October, no one had discontinued treatment.
The third study called Illuminate-B is planned to look into the effects of lumasiran in patients with PH1 who are under six years old. This Phase 3 study will be an open-label trial in eight patients with relatively preserved renal function. Alnylam has said that they have now aligned with the US FDA on the study design.