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

Agios Pharmaceuticals will be hosting a Pyruvate Kinase Deficiency Patient and Family Conference in Millbrae, California on Saturday, November 4th.

This free event will be a unique opportunity to hear from scientific and medical experts who are leading the way in Pyruvate Kinase Deficiency research. In addition, patients and families will have time to connect, share stories, and support one another.

To learn more about this upcoming conference and/or to register, click here.

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

Agios is developing a questionnaire that will help them to understand the impact of PK deficiency on both patients and caregivers.  To learn this information, a trained interviewer will be conducting face to face interviews with adults, adolescents, and young children with PK deficiency, and caregivers of children with PK deficiency.  Continue reading Patient Interview Study →

The 6th European Symposium on Rare Anaemias is quickly approaching. Organized by the European Network for Rare and Congenital Anaemias, this first Dutch-Belgium meeting for patients and health professionals will take place November 21-22, 2015 in Amsterdam, The Netherlands. This event is of no cost to patients and their families and will be presented in Dutch and English. Continue reading European Symposium on Rare Anaemias →

Agios has launched a new website called Drive PK trial, which offers patients, caregivers, and healthcare professionals information about their phase 2 clinical trial for the oral medication, AG-348. This medicine has been developed as a potential treatment for pyruvate kinase deficiency.  Due to a deficiency in the enzyme, pyruvate kinase, people with pk deficiency are anemic, which means they have a reduced number of healthy red blood cells.  The study is being conducted to determine Continue reading Agios launches the DRIVE PK Trial website →

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.

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 →

Today, at the  20^th 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 www.agios.com.