In the roulette wheel of rare genetic diseases, there are many heart-breaking conditions. GM1 gangliosidosis, Tay-Sachs disease, and Neimann-Pick disease are three of the rare lysosomal diseases that have devastating neurological consequences, and for which there are few therapeutic options. Sitting with the families of these patients, both those whose affected loved ones are still alive, and those who have passed away, has frequently left me in despair.
So it is with a bright hope that the work of Azafaros, a small company out of the Netherlands, stands out. It was founded by professors at Leiden University and the Academic Medical Center in the Netherlands. Their lead therapeutic, NIZUBAGLUSTAT, has impressed not only the U.S. Food and Drug Administration, but also the EU and UK drug regulatory authorities, granting a smoother and faster path to potential approval for Tay-Sachs, Sandhoff disease, and Niemann-Pick type C. You can find more information about lysosomal storage disorders over on their website.
Azafaros has completed both a natural history study called Pronto, as well as a Phase II, placebo-controlled double-blind study called Rainbow. These very rare metabolic diseases are known to have both many genetic variations, and many different expressions (phenotypes) even when two members of the same family carry the same genetic mutation. It appears that nizubaglustat has a positive impact on them many of them, which is very encouraging. Azafaros just released data showing positive results in nizubaglustat in patients with Niemann-Pick disease type C (NPC) or GM2 gangliosidosis. One other exciting aspect of this trial drug is that it is an oral medication! To have children, and adults able to be treated at home instead of in hospitals, has an enormous impact on the quality of life for all family members.
Azafaros has also clearly stated their intention to develop an expanded-access program with regulatory approval when the data makes plain the benefits to patients. There are also resources for patients on their website that were developed in cooperation with patient advocacy groups around the world. For those of you who have struggled to explain the devastation and frustration of these diseases, the patient videos on the website are worth exploring and sharing. In addition, there is a contact form on their website. I was surprised and delighted to get a response from Azafaros in 48 hours.
To Hans Aerts, Hermen Overkleeft, and Stan van Boeckel– the original researchers on this small molecule, thank you! Thank you for your science, thank you for your caring an thank you for giving us all hope.
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Kathy Devanny is Patient Worthy’s senior advocacy and recruitment specialist. She has worked in primary care planning, community health education, hospital administration and occupational medicine prior to concentrating in rare disease research and advocacy. She holds graduate degrees in Anthropology and Public Health Planning and Administration.
