Category Archives: News

Clinical Trial of AG-348 for Patients with PK Deficiency

The clinical study designed to evaluate the safety and efficacy of Agios Pharmaceutical’s AG-348 in adult patients with pyruvate kinase deficiency has opened at Boston Children’s Hospital.  This is the first site of a multicenter study that will open in North America and Europe.

Childrens Hospital-boston

AG-348 is an oral medication being studied as a possible treatment for PK deficiency. Researchers believe that this medicine may allow a patient with pyruvate kinase deficiency to maintain a normal amount of healthy red blood cells, and avoid other complications associated with this disease. Continue reading Clinical Trial of AG-348 for Patients with PK Deficiency

First results of Natural History Study

Today, at the  20th Congress of the European Hematology Association (EHA) taking place in Vienna, Agios Pharmaceuticals, Inc. presents new, final data from its Phase 1 multiple ascending dose (MAD) clinical trial of AG-348 in healthy volunteers. In addition, the first data from the global natural history study of PK deficiency are also presented by Dana-Farber Boston Children’s Cancer and Blood Disorder Center.

To read more about these results, please read the press release from Agios.

For those who are interested in the oral presentation, Agios hosts a conference call and webcast from the congress on Friday, June 12, 2015 beginning at 8:00 a.m. ET (2:00 p.m. CEST). To participate in the conference call, please dial (877) 377-7098 (domestic) or (631) 291-4547 (international) and refer to conference ID 53010830. The webcast will be accessible live or in archived form under “Events & Presentations” in the Investors and Media section of the company’s website at

6th European symposium on rare anaemias

We are happy to inform you about the 6th European Symposium on Rare Anaemias, organized by ENERCA (the European Network for Rare and Congenital Anaemias), that will take place in Amsterdam, The Netherlands,  on 21th and 22th november 2015.

This symposium will also be the 1st Dutch-Belgian meeting for patients and health professionals in Amsterdam. Through interactive sessions between patients and worldwide experts, this event will create a perfect atmosphere for brainstorming and sharing doubts among the attendants.

This year, there will be a special focus on Pyruvate Kinase Deficiency, dealing intensively with prevention, diagnosis, treatment and management. Through a plenary session, experts such as Dr. Richard van Wijk (University Medical Center, Utrecht), Dr. Sam Agresta (Agios Pharmaceuticals) and Dr. Rachael Grace (Boston Children’s Hospital), will introduce us to PKD, present the results and an overview of the trial for the activator treatment (Phase I and II) and the PKD Natural History Study.

Participation is free for patients and relatives.
Dutch & English simultaneous interpretation will be available for the whole event.

For more info and registration, we refer to the Leaflet of the 6th european symposium on rare anaemias and the Enerca website.

European Agios ad board meeting: an unforgettable experience

Cambridge Biomarketing invited 8 people, and 4 parents of young children, with Pyruvate Kinase Deficiency to attend a board meeting in London, from the 15th till the 17th of May 2015.  The same kind of meeting was also held in Texas, USA at the end of 2014. The goal of the meeting was to inform Agios pharmaceuticals about the impact that PKD has on daily living of all people that are affected by this disease.

Most of the people had never met anyone with PKD before and so the Board meeting became a very emotional rollercoaster full of recognising stories and support. First on the agenda was sharing each ones personal timeline, showing how Pyruvate Kinase Deficiency played a role in the lives of each member through the years.

The stories were very similar, but also very different in details. What became very clear, is that doctors still aren’t well informed about PKD and the knowledge of the medical world is not always up to date. There seems to be no defined treatment that is given to patients with PKD. To receive the right care, fully depends on the willingness from the pediatrician/hematologist to find answers and information.

Some people of PKD seemed hardly affected by the disease, while others were very limited in their energy levels and possibilities. It was special to see how PKD affects us all in a different way and it was interesting to think about what could cause the differences between all of us. Besides the physical effects of PKD, there clearly is a big psychological drain on each and every one of the people, family included.  Also each phase of life leads to different challenges and for all people with PKD, the power of survival and being normal and fitting are a big challenge.


For parents of a child with PKD, the journey how to balance a sick child in a normal world, next to the fact that there is little information about the disease seems very difficult. The parents found support in the stories of the people with PKD, but also found it confronting to see how it could be for their child when growing up.

Besides the stories of the members, there was also a paediatric haematologist from Kings College Hospital that informed us about the illness. Again we could conclude that the medical world has lots of answers, but there is still a lot unknown about PKD. In the end, there was a discussion about how each person dealt with difficult situations so that we could help parents and other PKD-creatures.

We hope that Agios Pharmaceuticals will keep on investing in developing a medicine to treat PKD and to keep working on informing the medical world about what PKD really means for people. All members of the board meeting were very thankful to Cambridge Biomarketing and Agios pharmaceuticals to give us the chance to participate in the road to more knowledge about Pyruvate Kinase Deficiency.

First PKD patient’s day in Italy

The Italian Association STEM Onlus organizes a “Patient’s day” dedicated to pyruvate kinase deficiency (PKD) in Milan on the 16th may.

The purpose of the meeting is to spread knowledge and illustrate the new scientific and therapeutic opportunities available, but also to initiate “informal” dialogue between doctors and patients and creating a spontaneous network of support for patients with this rare disease.

For more information about this day visit this website (in Italian) :

About STEM Onlus
Since 2008 the Association STEM Onlus has already organized several meetings between doctors, patients and their families, called “Patients’ day” dedicated to rare diseases, such as paroxysmal nocturnal hemoglobinuria, hemolytic anemias congenital defect of the diaphragm and enzymes of the red blood cell and autoimmune forms. The initiatives have seen an active participation and felt, with exchange of knowledge and experiences regarding the difficulties of living with a rare disease, as well as the birth of the Italian Association of patients with paroxysmal nocturnal hemoglobinuria (AIEPN).

832 signatures for gene therapy

European researchers have introduced a European grant proposal in order to raise funds for a clinical trial to cure PKD through gene therapy. 

The consortium team behind this proposal would like to thank everyone who signed the letter of support. The fact that up to 832 persons from 27 different countries, affected directly or indirectly by PKD gave their support, is certainly going to be very important for the potential success of the proposal. This is how this is stated in the grant proposal:

“Although the absolute number of patients with a rare disease is  low, the devastating severe effects of the disease and the poor quality of life of the patients have a huge social impact on parents, relatives and friends. This is underscored and exemplified by the response the initiative of ForGeTPKD has received. In less than 3 weeks after posting the ForGeTPKD initiative on the website of the International PKD patient Support Group (march 30, 2015) the project received the support of 832 people directly involved in or connected to pyruvate kinase deficient patients.

Link to PKD # of signatures
I’m a family member of someone with PKD 131
I’m a friend of someone with PKD 421
I’m a parent of a child/adult with PKD 48
I’m a patient with PKD 37
Other 195

Given these numbers, pyruvate kinase deficiency has a huge social impact, and affects in this way the lifes of at least 25 times more people than the absolute number of people directly affected by the disease.

The signatures came from around the world (27 countries!), but most people who signed the letter came from Spain, USA, France, The Netherlands, Denmark, Mexico, Australia, Belgium, UK and Canada.

The proposal was submitted on April 21st and there is a 6 months waiting period for the results. Only ~10% of the 130 presented proposals at the stage 2 will be funded. The researchers already passed the first stage were a 25% rate success was applied (accepting 130 out of 421 presented proposals).

Let’s cross our fingers this proposal will be accepted!

New drug to treat iron overload

Novartis announces FDA approval for Jadenu™ to simplify treatment administration for patients with chronic iron overload

Novartis announced that the US Food and Drug Administration (FDA) has approved JadenuTM (deferasirox) tablets, a new oral formulation of Exjade® (deferasirox) tablets for oral suspension, for the treatment of chronic iron overload due to blood transfusions in patients 2 years of age and older, and chronic iron overload in non-transfusion-dependent thalassemia syndromes (NTDT) in patients 10 years of age and older. Jadenu is the only once-daily oral iron chelator that can be swallowed whole.

  • Jadenu (deferasirox), a new formulation of Exjade (deferasirox), is the only once-daily oral tablet for iron chelation
  • Jadenu, taken with or without food, simplifies daily treatment administration for patients with chronic iron overload
  • Chronic iron overload is a serious condition that can affect people with sickle cell disease, thalassemia and myelodysplastic syndromes

Jadenu contains deferasirox, the same active ingredient that is in Exjade, a medicine that has been used by patients with chronic iron overload for almost 10 years. Exjade currently is the most-prescribed chelator in the United States[5].

“Jadenu is an exciting development for patients with chronic iron overload who have been eager for alternative treatment options,” said Dr. Elliott Vichinsky, Director of Hematology and Oncology at the University of California, San Francisco (UCSF) Benioff Children’s Hospital Oakland and Professor, UCSF School of Medicine. “Taking iron chelation therapy every day has sometimes been a challenge for them. The administration of Jadenu oral tablets once a day is simple.”

Novartis has submitted additional regulatory applications for Jadenu in other countries worldwide.

Read the whole media release or read more about Jadenu.