Introduction to Fabry disease

• Epidemiology
• Biochemical Pathway
• GLA gene
• Phenotype-genotype spectrum
• Inheritance
• Analysis of family history
• Random X-inactivation
• Progression & natural history
• Fabry specific biomarkers
• Diagnosis
• Adult and pediatric organ involvement
• Pediatric recommended assessments
• Adult recommended assessments
• Primary therapies
• Enzyme replacement
• Chaperone therapy
• Therapies under investigation
• Therapy initiation

Summary

By the end of the session the participant will be able to:

• Describe the pathophysiology of Fabry disease diagnosis and treatment.
• Describe the challenges associated with diagnosis of Fabry disease.
• List present and emerging treatment options for Fabry disease and apply them to patient cases using evidence-based medicine.
• Describe the benefits and any applicable risks of therapeutic approaches to Fabry disease and take them into account when formulating a treatment plan for patients.

ScientiaCME is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation: ScientiaCME designates this internet activity enduring material for a maximum of  0.75 AMA PRA Category 1 Credit(s)™ . 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. Participants will earn MOC points equivalent to the amount of CME credits claimed for the activity. It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.

Physicians: For maintenance of certification (MOC) credit, 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 credit for this activity. Please note: Not all activities on this site provide MOC credit. If this activity does not specify that it provides MOC credit in this section, then it does NOT provide MOC credit.

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 # 0574-0000-20-035-H01-P.  ACPE accreditation effective 8/13/20 and expires 8/13/22. This is a 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 ScientiaCME.

Faculty Disclosure:  

Dr. Virginia E. Kimonis, MD, MRCP, Professor, Department of Pediatrics, Division of Genetic & Genomic Medicine, University of California, Irvine, is an advisory board member and has participated as a Primary Investigator in a registry supported by Sanofi Genzyme.

Daisy Tapia, MS, LCGC, Genetic Counselor, Clinical Instructor, University of California, Irvine, has no relevant conflicts of interest to disclose.

Disclosures of Educational Planners: Charles Turck, PharmD, BCPS, BCCCP, President of ScientiaCME, has no relevant conflicts of interest to disclose.

Disclosures of Peer Reviewer:  Rob Hopkin, MD has received consulting income and research grants from Sanofi Genzyme, Amicus, Sangano, Avrobio, and Protalix

Disclosures of Peer Reviewer:  George Sarka, MD has received consulting / speaker honorarium from Allergan

Commercial Support Disclosure: This program is supported by an educational grant from Sanofi/Genzyme.

• Read the learning objectives above
• Take the Pre-Test (optional). Completion of the pre-test will help us evaluate the knowedge 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.
• Take the post-test
• Complete the activity evaluation and CME registration. A CE certificate will be emailed to you immediately.

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