Category Archives: News

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

PKD Natural History Study in Europe

PKD Natural History Study from Harvard University also accessible in Europe

The Van Creveldkliniek, centre for benign hematology of the University Medical centre Utrecht, the Netherlands is a highly specialised multidisciplinary treatment centre hemostasis, thrombosis and diseases of the blood (except cancer). One of the goals of this centre is to improve the lives of patients with Pyruvate Kinase Deficiency (PKD).


To reach this goal local hematologist Dr Eduard J van Beers participates in the PKD Natural History Study from Harvard University in the USA. A registry study open for all patients in Europe with as purpose to describe the symptoms, treatments, and complications related to the quality of life of patients with PKD.

Patients that want to participate are asked to fill in questionnaires on their quality of live and are asked to give permission to the research team to look through their medical history and recent laboratory results.

Other European Hospitals participating on this study are:

  • Universitätsklikum Heidelberg, Zentrum Für Kinder- un Jugendmedizin Klinik Kinderheilkunde, Heidelberg, Germany
  • Klinikum der Universität München, Center for Pediatric Hematology/HemostaseologyMunich, Germany
  • Fondazione IrCCS Ca’Granda Ospedale Maggiore Policlinico, Milan, Italy

Further studies done in the van Creveldclinic

Patients can also participate in another study by donating a blood sample for research in the laboratory of Dr Richard van Wijk. This research is to further delineate the relation between laboratory results en severity of the low blood count.

To take part at this research or to ask more information about the Harvard study, you can contact the van Creveldclinic:

Ward van Beers, Internist-hematoloog | Divisie Interne Geneeskunde en Dermatologie, Van Creveldkliniek

Universitair Medisch Centrum Utrecht | Kamernummer C.01.412 | Huispostnummer C.01.412 | Postbus 85500 | 3508 GA  UTRECHT T: +31 88 75 584 50 | F: +31 88 75 554 38

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: