All posts by Laure

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.

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.

Gene therapy to cure PKD?

Apart from the activities conducted by Agios Pharmaceuticals to develop a drug treatment for PKD, alternative strategies are also being explored in the field. One of these alternative ways is gene therapy. Gene therapy basically involves correction of the defect at the genetic level in the right cells (hematopoietic stem cells). This has the potential of curing the patient with a hematological disorder, such as PKD. This sounds simple, but in fact it is technically challenging. Nevertheless, a lot of progress has been made over the years for a number of hematological diseases such as sickle cell anemia and thalassemia. 
Dr. Jose Carlos Segovia is a Spanish investigator who has focused his research on developing methods to cure PKD by gene therapy. His approach recently received the Orphan Drug designation for the treatment of PKD by the European Community (EU/3/14/1130). This means that his approach is ready for clinical trial. Together with Dr. Segovia and many other European clinicians and researchers in the field of PKD thet have formed a EU consortium.
Currently, the researchers are writing a European grant proposal to raise funds in order to be able to carry out a clinical trial. In addition, this grant proposal (TITLE: ForGeTPKD: Gene therapy clinical trial for a metabolic red cell disease: Pyruvate Kinase deficiency) involves the identification of new genes involved in PKD, and the way PKD causes disease.
Support from patients with PKD will be of great added value to this grant proposal and, thereby, will increase the chances of obtaining financial support for the trial. We therefore kindly ask you to support this initiative by signing a letter of support

Today is Rare Disease Day

Rare Disease Day 2015 takes places on 28 February. Rare disease patient organisations throughout the world join together to raise awareness of rare diseases and the millions of people affected by them. The Rare Disease Day 2015 theme Living with a Rare Disease recognises the millions of families, friends and carers whose daily lives are impacted by rare diseases. The 2015 slogan day-by-day, hand-in-hand calls for solidarity as together patients, families, carers, patient organisations and healthcare professionals can participate in improving the lives of people living with a rare disease.

Learn more at

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: