In this online, self-learning activity:
Pompe disease (PD) is a progressive, often fatal, autosomal recessive, neuromuscular disorder caused by mutations of the α-glucosidase gene on chromosome 17. PD is characterized by glycogen accumulation in skeletal, cardiac and smooth muscles due to a deficiency in α-glucosidase (GAA), an important lysosomal enzyme responsible for glycogen catabolism. PD is categorized into three groups based on symptoms and age of onset. The classic infantile form presents in the first year of life, usually in the first two months, with hypertrophic cardiomyopathy. The non-classic infantile form presents later in the first year of life, without or with less severe cardiomyopathy. The late onset form of PD presents any time after one year of life, usually without cardiac complications.
PD is rare, with one study estimating the incidence in the U.S. to be 1 in 22,000 births. The biggest risk factor for the disease is genetics; at conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being not a carrier. Nonspecific diagnostic findings for PD may include abnormal EMG, elevated serum creatine kinase, elevated transaminases and elevated lactate dehydrogenase. A definitive diagnosis for PD involves a dried blood spot test to determine GAA enzyme activity level; reduced GAA activity (less than 40% of normal) is indicative of a positive diagnosis. A gene mutation analysis, or another GAA enzyme test using a different area of tissue, is recommended to confirm the diagnosis. The disease is not uncommonly undiagnosed or is misdiagnosed, representing one practice gap that continued HCP education may address, particularly given that earlier treatment may minimize rapid and irreversible disease progression.
The following HCPs: adult and pediatric neurologists, internists, and cardiologists; physician assistants and nurse practitioners in those areas of specialty; pharmacists who practice in specialty pharmacies that treat patients with rare diseases; and any other HCPs with an interest in or who may clinically encounter patients with PD.
Commercial Support Disclosure: This program is supported by an educational grant from Spark Therapeutics.
This activity is free of charge.
Release Date: April 29, 2022 -- Expiration Date: April 29, 2024
Faculty: Virginia Kimonis, M.D., MRCP
Introduction, Disclosures |
Epidemiology of and risk factors for PD
Symptomology and diagnosis of PD
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Treatment in patients with PD
· Infantile-onset: ERT · Glc(4) measurement · Cross-reactive immunologic material status and anti-GAA antibodies · Immune tolerance induction · Late-onset
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Summary, conclusions, and best practice recap |
By the end of the session the participant will be able to:
ACCME Activity #202290041
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education through ScientiaCME. ScientiaCME is accredited by the 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.
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 (0.075 CEUs) 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 #0574-0000-22-031-H01-P. This is an Knowledge (K)-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.
Nurse Practitioners (NPs): The American Academy of Nurse Practitioners accepts AMA PRA Category 1 Credit(s)™ from organizations accredited by the ACCME. ScientiaCME will provide NPs who successfully complete each activity with a certificate of participation indicating that the activity was designated for AMA PRA Category 1 Credit(s)™.
Physician Assistants: The American Academy of Physician Assistants accepts AMA PRA Category 1 Credit(s)™ from organizations accredited by the ACCME.
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.
Faculty Disclosure:
Virginia E. Kimonis, MD, MRCP, Professor, Dept. of Pediatrics, Division of Genetics and Genomic Medicine, Univ. of California, Irvine, has has no relevant financial disclosures.
Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, President of ScientiaCME, has no relevant financial disclosures.
Faculty will not discuss off-label uses.
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 Spark Therapeutics.
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