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This activity is jointly provided by USF Health and touchIME.

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    Faculty & Disclosures
    Dr Rachael Grace

    Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and Harvard Medical School, Boston, MA, USA

    Dr Rachael Grace is a paediatric haematologist at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and an associate professor at Harvard Medical School in Boston, MA, USA. read more

    Dr Grace is the medical director of the Hematology Clinical Research Program at Boston Children’s Hospital and is recipient of the Blanche P. Alter Investigatorship in Hematology. She received her MD from Brown University and received her Masters in Medical Science from Harvard Medical School. She completed her paediatrics residency at Boston Children’s Hospital and paediatric haematology/oncology fellowship at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

    Dr Grace’s clinical and research interests are focused on improving outcomes of children with immune cytopenias and rare congenital haemolytic anaemias. She was the lead investigator for the Pyruvate Kinase (PK) Deficiency Natural History Study, and is on the steering committee for the Peak Registry for patients with PK deficiency. She is a co-chair of the First International Guideline for the diagnosis and management of PK deficiency, a global initiative. She is a leading investigator for clinical trials of PK activators to treat PK deficiency in adults and children.

    Dr Rachael Grace discloses: Consulting fees from Agios and Sanofi. Grants/research support from Agios, Novartis and Sobi.
    Dr Hanny Al-Samkari

    Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Dr Hanny Al-Samkari is an assistant professor of medicine at Harvard Medical School, Boston, MA, USA, and clinical investigator at the Massachusetts General Hospital (MGH) Division of Hematology Oncology. He also serves as co-director of the MGH Hereditary Hemorrhagic Telangiectasia (HHT) Center of Excellence. read more

    Dr Al-Samkari’s clinical and research interests are in haemostasis and haemolysis, focusing on HHT, anti-angiogenic therapeutics, thrombocytopenias, hereditary haemolytic anaemias and novel anaemia therapeutics. He currently serves as principal investigator for many clinical trials in these areas, and is an internationally recognized expert in clinical use and development of pyruvate kinase activators.

    Dr Hanny Al-Samkari discloses: Consulting fees from Agios, argenx, Forma Therapeutics, Moderna, Novartis, Rigel and Sobi. Grants/research support from Agios, Amgen, Sobi and Vaderis Therapeutics.
    Dr Ami J Shah

    Lucile Packard Children’s Hospital Stanford, and Stanford University, Palo Alto, CA, USA

    Dr Ami J Shah is clinical professor of paediatrics in the Division of Hematology/Oncology/Stem Cell Transplantation and Regenerative Medicine at Stanford University, Palo Alto, CA, USA. read more

    Dr Shah graduated from the University of North Carolina at Chapel Hill, and completed her residency and fellowship at the Children’s Hospital, Los Angeles.

    She has been involved in gene therapy trials for many years, and has been the site principal investigator for the current pyruvate kinase deficiency gene therapy trial in the USA.

    Dr Ami J Shah discloses: Advisory board/panel fees from Bluebird Bio and Vertex (relationship terminated).
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    A visually engaging discussion designed to emulate a ‘live’ panel experience and provide clinicians with practical expert insights to address their clinical challenges. Useful tips below will show how to navigate the activity. Close

    Navigating pyruvate kinase deficiency today: How can the disease burden and unmet treatment needs be addressed?

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    Learning Objectives

    After watching this activity, participants should be better able to:

    • Recognize the signs and symptoms of PK deficiency and the burden of disease in affected patients
    • Evaluate established therapeutic strategies for PK deficiency and identify remaining unmet treatment needs
    • Describe novel and emerging therapeutic strategies for PK deficiency and how they may address current unmet needs
    Overview

    In this activity, three experts provide their perspectives on the clinical presentation and burden of disease in patients with pyruvate kinase (PK) deficiency, current treatment strategies and the remaining unmet treatment needs, and future approaches to managing the disease. The discussion is guided by pre-canvassed questions provided by healthcare professionals involved in the management of patients with PK deficiency.

    This activity is jointly provided by USF Health and touchIME. read more

    Target Audience

    This activity has been designed to meet the educational needs of haematologists (including haemato-oncologists), paediatric haematologists, haematology nurse specialists and nurse practitioners, neonatologists, physician assistants and primary care physicians involved in the management of patients with PK deficiency.

    Disclosures

    USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

    Faculty

    Dr Rachael Grace discloses: Consulting fees from Agios and Sanofi. Grants/research support from Agios, Novartis and Sobi.

    Dr Hanny Al-Samkari discloses: Consulting fees from Agios, argenx, Forma Therapeutics, Moderna, Novartis, Rigel and Sobi. Grants/research support from Agios, Amgen, Sobi and Vaderis Therapeutics.

    Dr Ami J Shah discloses: Advisory board/panel fees from Bluebird Bio and Vertex (relationship terminated).

    Content reviewer

    Amy Patterson MSN, APRN, AOCNS®, BMTCN discloses: Speakers Bureau fees from Gilead and Kite (relationship terminated).

    Touch Medical Directors

    Sola Neunie has no financial interests/relationships or affiliations in relation to this activity.

    USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

    Requirements for Successful Completion

    In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

    If you have questions regarding credit please contact cpdsupport@usf.edu.

    Accreditations

    Physicians

    This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

    USF Health designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

    The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 CreditTM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu).

    Advanced Practice Providers

    Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

    The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

    Date of original release: 27 March 2023. Date credits expire: 27 March 2024.

    If you have any questions regarding credit please contact cpdsupport@usf.edu.

    This activity is CE/CME accredited

    To obtain the CE/CME credit(s) from this activity, please complete this post-activity test.

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    Genetic Blood Disorders
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    This Activity Is Funded By:

    An independent medical education grant from Agios Pharmaceuticals.
    This activity is jointly provided by USF Health and touchIME.

    The information provided by this CE activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

    USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

    USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CE to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.

    Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME and USF Health to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by touchIME or USF Health of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME or USF Health activities. touchIME and USF Health accept no responsibility for errors or omissions.

    This content is intended for healthcare professionals.

    Date of original release: 27 March 2023. Date credits expire: 27 March 2024.

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    touchPANEL DISCUSSION
    Navigating pyruvate kinase deficiency today: How can the disease burden and unmet treatment needs be addressed?
    0.75 CE/CME credit
    Question 1/4
    Which of the following measures may be used to supplement information from other tests, such as pyruvate kinase enzyme activity and reticulocyte count, to help determine a diagnosis of pyruvate kinase deficiency?

    ADP, adenosine diphosphate; ATP, adenosine triphosphate.

    A sub-study of the Pyruvate Kinase Deficiency Natural History Study included 41 patients with pyruvate kinase deficiency.1 Results showed that 40 patients had a low pyruvate kinase to hexokinase ratio, corresponding to a sensitivity for pyruvate kinase deficiency diagnosis of 98% (95% confidence interval 87–100%).1 Diagnosis of pyruvate kinase deficiency should be suspected when pyruvate kinase activity is normal but relatively low in comparison to other age-dependent red cell enzymes, such as hexokinase and glucose-6-phosphate dehydrogenase.2

    References

    1. Al-Samkari H, et al. Br J Haematol. 2021;192:1092–6.
    2. Grace RF, et al. Br J Haematol. 2019:184;721–34.
    Question 2/4
    You have confirmed a diagnosis of pyruvate kinase deficiency in a newborn baby, and her mother asks what to expect in terms of complications associated with the disease. Which of these statements might you include in your advice?

    Pooled data from the DRIVE-PK,1 ACTIVATE2 and ACTIVATE-T3 trials were analysed to characterize bone density abnormalities in patients with pyruvate kinase deficiency.4 Of the 159 patients evaluated, 85 (54%) had osteopenia and 33 (21%) had osteoporosis.4 Data from the Pyruvate Kinase Deficiency Natural History Study showed that liver cirrhosis only occurred in 8/240 patients (3%).5 The same study showed that only 10/127 patients (8%) aged ≥18 years received regular transfusions.5 Oral antibiotics for infection prophylaxis are indicated following splenectomy, the duration of which is at the physician’s discretion.6

    References

    1. Grace RF, et al. N Engl J Med. 2019;381:933–44.
    2. Al-Samkari H, et al. N Engl J Med. 2022;386:1432–42.
    3. Glenthøj A, et al. Lancet Haematol. 2022;9:e724–32.
    4. Al-Samkari H, et al. Blood. 2020:136(Suppl. 1):30–2.
    5. Grace RF, et al. Blood. 2018;131:2183–92.
    6. Grace RF, et al. Br J Haematol. 2019:184;721–34.
    Question 3/4
    Your 5-year-old patient with pyruvate kinase deficiency receives regular blood transfusions but continues to experience symptoms of anaemia that affect her daily life. What action should you take to ease your patient’s symptoms of anaemia?

    Splenectomy is recommended in patients with pyruvate kinase deficiency who require frequent transfusions and experience symptomatic anaemia.1 The optimum timing for splenectomy in patients with pyruvate kinase deficiency is 5–18 years of age.1 Although splenectomy only partially ameliorates anaemia and is not effective for all patients with pyruvate kinase deficiency,1,2 it can help to reduce transfusion requirements, improve haemolysis and elevate haemoglobin level.2 An alternative option for this patient could be enrollment in an open clinical trial that includes children with pyruvate kinase deficiency, such as ACTIVATE-KidsT (NCT05144256).3 Chelation is often indicated to treat iron overload after 10–14 transfusions,1 but the purpose is to clear away surplus iron and keep iron at natural levels.4

    References

    1. Grace R, Barcellini W. Blood. 2020;136:1241–9.
    2. Grace RF, et al. Br J Haematol. 2019:184;721–34.
    3. ClinicalTrials.gov. NCT05144256. Available at: https://beta.clinicaltrials.gov/study/NCT05144256 (accessed 3 March 2023).
    4. Entezari S, et al. J Toxicol. 2022;2022:4911205.
    Question 4/4
    A phase I gene therapy trial of patients with pyruvate kinase deficiency is ongoing. For the two patients in the trial who have received gene therapy so far, what were their transfusion requirements following engraftment of the genetically modified cells?

    A phase I clinical trial (NCT04105166) is evaluating the safety and efficacy of a haematopoietic cell-based gene therapy for patients with severe and/or transfusion-dependent pyruvate kinase deficiency.1,2 Both patients in the trial for whom data are available achieved sustained transfusion independence over the 2-year period post-engraftment.2

    References

    1. ClinicalTrials.gov. NCT04105166. Available at: https://beta.clinicaltrials.gov/study/NCT04105166 (accessed 24 February 2023).
    2. Shah AJ, et al. Presented at: 64th ASH Annual Meeting, New Orleans, LA, USA. 10–13 December 2022. Abstr 2138.
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    This Activity Is Funded By:

    An independent medical education grant from Agios Pharmaceuticals.
    This activity is jointly provided by USF Health and touchIME.

    The information provided by this CE activity is for continuing education purposes only and is not meant to substitute for the independent medical/clinical judgment of a healthcare provider relative to diagnostic and treatment options of a specific patient’s medical condition.

    USF is an Equal Opportunity / Affirmative Action / Equal Access Institution.

    USF Health is accredited by the Accreditation Council for Continuing Medical Education, the American Nurses Credentialing Center and the Accreditation Council for Pharmacy Education to provide continuing education to healthcare professionals. As an accredited provider, USF Health is required to disclose personal information to relevant accredited bodies that certify CE to process credits/contact hours, comply with reporting requirements, and for internal recordkeeping and regulatory purposes. USF Health does not share or sell any individual’s contact information or unique identifiers to any commercial supporter, advertiser, or third party without the specific permission of the individual.

    Unapproved products or unapproved uses of approved products may be discussed by the faculty; these situations may reflect the approval status in one or more jurisdictions. The presenting faculty have been advised by touchIME and USF Health to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by touchIME or USF Health of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in touchIME or USF Health activities. touchIME and USF Health accept no responsibility for errors or omissions.

    This content is intended for healthcare professionals.

    Date of original release: 27 March 2023. Date credits expire: 27 March 2024.

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