All posts by Laure

Pyruvate Kinase Deficiency Meeting

This weekend, an advisory board meeting was held by Agios Pharmaceuticals and Cambridge Biomarketing in Austin, Texas. It was the occasion for patients having pyruvate kinase deficiency to meet fellow patients or parents and share some knowledge about living with this rare disease.

This is a short description of the weekend by one of the patients:

“On the first day, we met with other pyruvate kinase deficiency patients and parents at the hotel. We had dinner together and were joined by Agios and CB.

The second day, Agios made a presentation about the preparations to start a phase 2 clinical trial of a medicine for pyruvate kinase deficiency patients. Then, each patient or parent made a timeline of important life events en presentations were prepared in groups. The day ended with some sightseeing.


The third and last day the presentations were given. There was a lot of discussion between presenations and this was an ideal occasion for sharing between fellow patients and parents. Some of us even got over their fear for public speaking!

The whole weekend was a very emotional and unforgettable experience.”

New promising medicine

Positive first results for a new medicine against Pyruvate Kinase Deficiency  

Agios Pharmaceuticals has concluded the first Phase trial in 64 healthy volunteers of a new medicine AG-348 that targets the underlying cause of Pyruvate Kinase Deficiency. Results were positive: AG-348 led to a substantial increase in Pyruvate Kinase enzymatic activity, had a favorable safety profile and was well tolerated during a 14 days treatment in healthy volunteers.

Read the news release from Agios here.

The results were presented at the 56th Annual Meeting of the American Society of Hematology (ASH). The abstract is available on their website.

Pyruvate Kinase Deficiency Survey

Agios Pharmaceuticals created a survey about people’s experiences living with pyruvate kinase deficiency. Agios Pharmaceuticals is a commercial, for-profit company committed to transforming the lives of people with Pyruvate Kinase Deficiency by investigating new therapies for the disease. Cambridge BioMarketing is conducting this survey on behalf of Agios.

The information gathered through this survey will help Cambridge BioMarketing and Agios better understand Pyruvate Kinase Deficiency and the impact it has on the lives of patients and their parents.

If you have pyruvate kinase deficiency, or if you are a parents of a child with pyruvate kinase deficiency, you can take the survey through this link: