Pyruvate Kinase Deficiency Global Longitudinal Registry

This study is an observational (ie, non-interventional), longitudinal, multicenter, global registry for patients with pyruvate kinase (PK) deficiency, a rare non-spherocytic hemolytic anemia.

This Registry will be open for enrollment for 7 years and all enrolled participants will be followed prospectively for a minimum of 2 years, and up to 9 years.

Data will be collected from participating Registry Physicians, participants, and, where appropriate, parents/guardians who have provided informed consent or assent (where relevant) and authorization pursuant to applicable laws and regulations.

Data should include demographic, clinical, and treatment data; and other data of relevance to the management of patients with PK deficiency. Annual assessments are strongly encouraged to enhance longitudinal understanding of PK deficiency; however, no specific assessments are set or required by this Registry protocol.

Secondary Outcome Measures  :

1. Severity of Disease [ Time Frame: 9 years ]To understand the prevalence, incidence, and severity of complications associated with PK deficiency
2. Disease Impact on Pregnancy [ Time Frame: 9 years ]To evaluate pregnancy outcomes
3. Clinical Management Assistance [ Time Frame: 9 years ]To provide a source of longitudinal data to assist physicians with clinical management of individual patients
4. Global Repository [ Time Frame: 9 years ]To act as a global repository for potential data from other properly consented PK deficiency-related studies to support aggregate and comparative analyses

Other Outcome Measures:

1. Genetic [ Time Frame: 9 years ]To examine a possible correlation between PKLR genotype and PK deficiency clinical phenotype

Contacts

PKD PATIENTS FORUM – April 3 rd, 2017 at Hammersmith Hospital, London.

On april 3rd there will be a patient engagement forum in London to inform us (patients and relatives) and the physicians about the gene therapy clinical trial for PKD called “ForGetPKD” and to start contacts for potential future enrollment.

During this event we will get more information about gene therapy and how it’s used to treat thalassemia and sickle cell disease and how it will be tested to treat PKD.

You can attend the event for free but have to register by contacting Nicola Window: nicola.window@imperial.nhs.uk.

More info:  PKD Forum Announcement

What if you’re young and because of your Pyruvate Kinase Deficiency your Ferritin is too  high. In some cases, when other medicines don’t work or are not efficient, the doctors advice to use Desferal. But that’s not an easy thing to do and especially when not you’re a young boy. Using Desferal involves needles and a pump that has to stay several hours and sometimes multiple times a week.

A Very Brave young man  with Pyruvate Kinase Deficiency made a video together with his mother in where he explains how it works. Hos goal is to teach people all about it and  he has done a great job explaining it, without making it scary.

So we are Very proud to share this video and we hope that it will help other people that have to use Desferal.

21 and 22th of November 2015 was a special weekend for people with Pyruvate Kinase Deficiëncy. For the first time there was a symposium on Rare Anaemias that had a focus on Pyruvate Kinase Deficiëncy. For this occasion there where allot of people with this disease invited to participate.

Professionals from around Europe and America where invited to share the developments that are now in progress, such as new treatments,  new learned knowledge about the illness and its side-effects and the care for patiënts in the hospital.  Beside all the professionals Maaike Eijgenraam was invited to tell the professionals the perspective of the patiënts.

All in all the conference was place buzzing with new ideas and it was clear that the interest of professionals (doctors, pharmaceutical industries and scientist) where more and more focussed on PKD.

The presentation can now be seen online.

Written presentations and summaries :

http://www.enerca.org/activities/training/6th-european-symposium.html

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.

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