CME: Thymidine kinase 2 deficiency identification and management: TK2D-MDDS, do you copy?
Activity Description / Statement of Need:
In this online, self-learning activity:
Thymidine kinase 2 deficiency (TK2D) is an ultrarare mitochondrial disease caused by recessive mutations in the TK2 gene and manifesting as a form of mitochondrial DNA depletion/deletion syndrome (MDDS) and mitochondrial myopathy. Under normal conditions, the TK2 gene encodes for the thymidine kinase enzyme present in the mitochondria, which is responsible for the phosphorylating of pyrimidine nucleosides, deoxythymidine, and deoxycytidine. These are the first steps in mitochondrial DNA synthesis, and researchers speculate that TK2 mutations affect muscle tissue because its higher energy demands make it most susceptible to mitochondrial impairment. Mutational analyses of patients with MDDS have found that approximately 15% have TK2 mutations, which may be extrapolated to about 600 to 2,700 individuals in the US.
Target Audience:
HCPs including but not limited to: neurologists, pediatric neurologists, pediatricians, primary care providers, pulmonologists, gastroenterologists, and medical geneticists; physician assistants, nurse practitioners, pharmacists, and nurses who practice in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with TK2D.
Commercial Support Disclosure: This program is supported by an educational grant from UCB.
This activity is free of charge.
Release Date: February 07, 2025 -- Expiration Date: February 07, 2027
Faculty: Mary Kay Koenig, MD
Agenda
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Faculty introduction and disclosures |
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Introductory content · Epidemiology · Disease characteristics, pathophysiology, clinical presentation · Diagnostic methods |
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Treatment · Supportive care o Pulmonary, gastronomy, muscle weakness/mobility, and different interventions for each clinical manifestation · Non-pharmacological options o Exercise o Medication avoidance based on toxicity features o Dietary supplements · Emerging therapies o Gene therapy and deoxynucleoside therapy, and a combination of both Present practice gaps · Underdiagnosis, lack of genetic testing, lack of therapy protocols and guidelines · TK2D specific: addressing patient quality of life concerns in addition to physical functions and disease progression |
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Summary, conclusions, and best practice recap |
Learning Objectives
By the end of the session the participant will be able to:
- Summarize challenges related to the identification and health burden of TK2D.
- Describe the mechanism of disease in TK2D.
- Describe the pharmacological and non-pharmacological treatments for the management of TK2D.
- Formulate a treatment plan for a patient with TK2D, including supportive care and non-pharmacological interventions.
Accreditation
ACCME Activity #202919929
ScientiaCME is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
Credit Designation: ScientiaCME designates this educational activity for a maximum of 0.75 AMA PRA Category 1 Credit(s)™ toward the AMA Physician's Recognition Award. Physicians should only claim credit commensurate with the extent of their participation in the activity.
ABIM MOC Recognition Statement: Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 0.75 MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.
ABIM MOC Credit Type: Medical Knowledge
ABP MOC Recognition Statement: Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 0.75 MOC points in the American Board of Pediatrics' (ABP) Maintenance of Certification (MOC) program. It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting ABP MOC credit.
ABP MOC Credit Type: Lifelong Learning and Self-Assessment
Physicians: For maintenance of certification (MOC) points, you must enter your board certification ID # and birth date correctly. It is the learner's responsibility to provide this information completely and accurately at the completion of the activity. Without providing it, the learner will NOT receive MOC points for this activity. By providing this data, you acknowledge that it will be shared with ACCME and the applicable certifying board. Please note: Not all activities on this site provide MOC points. If this activity does not specify that it provides MOC points in this section, then it does NOT provide MOC points. This activity provides MOC points only for ABIM and ABP.
Pharmacists
ScientiaCME is accredited by the Accreditation Council for Pharmacy Education (ACPE) as a provider of continuing pharmacy education. This activity is approved for 0.75 contact hours of continuing pharmacy education credit. Proof of participation will be posted to your NABP CPE profile within 4 to 6 weeks to participants who have successfully completed the post-test. Participants must participate in the entire presentation and complete the course evaluation to receive continuing pharmacy education credit. ACPE #0574-0000-25-004-H01-P. This is an Application (A)-type activity.
Pharmacists: You must enter your NABP # and birth date correctly so that proof of participation can be posted to your NABP CPE profile. It is the learner's responsibility to provide this information completely and accurately at the completion of the activity. Without providing it, the learner will NOT receive CPE credit for this activity.
Nurses: The American Nurses Credentialing Center (ANCC) accepts AMA PRA Category 1 Credit(s)™ from organizations accredited by the ACCME. This activity is designated for up to 0.75 AMA PRA Category 1 Credit(s)™.
Physician Associates: The American Academy of Physician Associates (AAPA) accepts AMA PRA Category 1 Credit™ assigned by organizations accredited by the ACCME as satisfying Category 1 CME for National Commission on Certification of Physician Assistants (NCCPA) national certification maintenance. This activity is designated for up to 0.75 AMA PRA Category 1 Credit(s)™.
Nurse Practitioners: The American Academy of Nurse Practitioners Certification Board (AANPCB) states that continuing education providers accredited by the ACCME may provide acceptable, accredited Advanced Practice Provider content. This activity is designated for up to 0.75 AMA PRA Category 1 Credit(s)™.
Faculty Disclosure and Resolution of COI
As a provider of continuing medical education, it is the policy of ScientiaCME to ensure balance, independence, objectivity, and scientific rigor in all of its educational activities. In accordance with this policy, faculty and educational planners must disclose any significant relationships with commercial interests whose products or devices may be mentioned in faculty presentations, and any relationships with the commercial supporter of the activity. The intent of this disclosure is to provide the intended audience with information on which they can make their own judgments. Additionally, in the event a conflict of interest (COI) does exist, it is the policy of ScientiaCME to ensure that the COI is resolved in order to ensure the integrity of the CME activity. For this CME activity, any COI has been resolved thru content review by ScientiaCME.
Disclosures of Faculty: Mary Kay Koenig, MD, Professor, Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Health Science Center at Houston, has received financial compensation from Acadia Pharmaceuticals, Acasti Pharmaceuticals, Astellas, Chromadex, Jazz Pharmaceuticals, Reneo Pharmaceuticals, Marinus Pharmaceuticals as a consultant; in addition to grant/research work from Astellas, Reneo Pharmaceuticals, Jazz Pharmaceuticals, Tisento Therapeutics, Biohaven, Quince Therapeutics, Abliva AB, PTC Therapeutics, Noema Pharma, Marinus Pharmaceuticals, Stealth Biotherapetuics, Biogen, Nflexion Therapeutics, EryDel S.p.A.; in addition to speaker's bureau work for Jazz Pharmaceuticals and served on the Data Monitoring Safety Board for UCB.
Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, President of ScientiaCME, has no relevant financial disclosures.
Faculty WILL discuss off-label uses of a commercial product.
All relevant financial relationships have been mitigated.
ScientiaCME adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CE activity, including faculty, planners, reviewers or others are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity.
Commercial Support Disclosure: This program is supported by an educational grant from UCB.
Instructions
- Read the learning objectives above
- Take the Pre-Test (optional). Completion of the pre-test will help us evaluate the knowledge gained by participating in this CME activity.
- View the online activity. You may view this is in more than one session, and may pause or repeat any portion of the presentation if you need to.
- Minimum participation threshold: Take the post-test. A score of 70% or higher is required to pass and proceed to the activity evaluation.
- Complete the activity evaluation and CME registration. A CE certificate will be emailed to you immediately.
System Requirements
Windows 7 or above
Internet Explorer 8
*Adobe Acrobat Reader
Mac OS 10.2.8
Safari or Chrome or Firefox
*Adobe Acrobat Reader
Internet Explorer is not supported on the Macintosh
*Required to view Printable PDF Version
Please take a few minutes to participate in the optional pre-test. It will help us measure the knowledge gained by participating in this activity.