The Diagnostic Odyssey for Individuals With Rare Diseases: Pompe Disease and Other Lysosomal Storage Diseases
A disease is considered “rare” if it affects fewer than 200,000 individuals in the US. Uncovering the genetic roots of rare diseases and using those insights to develop new treatments is an ongoing process. Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. LSDs are characterized by an abnormal build-up of various materials in the body’s cells because of enzyme deficiencies and may affect different parts of the body. New LSDs continue to be identified, and there are emerging therapies and clinical trials in progress on possible treatments for some of these diseases. Living with these rare diseases impacts both the individual and their family/caregivers, both physically as well as mentally.
This activity will explore recent advances in the diagnosis and treatment of Pompe disease and other LSDs, including current clinical trials. It will also share insights and perspectives from and provide strategies to support the well-being of both the individual and their family/caregiver(s) and highlight the role of the interprofessional team in evaluating and improving care for patients with these conditions.
This activity is provided by Optum Health Education and UnitedHealthcare.
No commercial support was received for this activity.
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This activity is designed to meet the educational needs of case managers, counselors, nurses, nurse practitioners, pharmacists, pharmacy technicians, physicians, PAs, psychologists, social workers, therapists and other health care professionals who care for individuals with LSDs.
At the end of this educational activity, participants should be able to:
- Describe the diagnostic journey for individuals with Pompe disease and other LSDs.
- Discuss emerging diagnostic tools and therapies, recent advances in management options and clinical trials for Pompe disease and other LSDs.
- Explain the challenges and barriers with diagnosis, multi-system health issues and treatment.
- Incorporate individual and caregiver engagement into shared decision-making.
- Apply interprofessional team strategies for improving coordination and communication to support the well-being of both the individual and their family/caregiver(s).
NEW IN 2022!
PODCAST: SPOTLIGHT ON THE PATIENT
Following each webcast in our The Diagnostic Odyssey for Individuals With Rare Diseases Webcast series, we will be releasing an accompanying podcast sharing the personal experience from the patient, family or caregiver perspective. These podcasts will provide a more in-depth understanding of the challenges and barriers that patients and their caregivers face as they navigate the complexities of the health care system.
Click here to access the podcast, The Diagnostic Odyssey for Individuals With Rare Diseases: Spotlight on the Patient, Pompe Disease
Jennifer L. Cohen, MD
Assistant Professor of Pediatrics
Duke Department of Pediatrics, Division of Medical Genetics
Duke University School of Medicine
About the presenter
Jennifer L. Cohen, MD, completed a combined residency program at the Children’s Hospital of Philadelphia in Pediatrics and Medical Genetics before joining the faculty at Duke in 2019. Her research interests and expertise are in perinatal genetic medicine with a current focus on earlier diagnosis and management of rare genetic diseases. Dr. Cohen is actively involved in the Pompe disease gene therapy trials at Duke. Her longstanding research interests and training have led her to pursue the study of in utero treatment for lysosomal storage diseases and to pursue implementation of more rapid and comprehensive neonatal diagnostic testing in critically ill infants.
Robin K. Blitz, MD
Family Engagement Center / Special Needs Initiative / Complex Health Solutions
Sarah Chart, RN
Optum Health Education
Rebecca Gleason, RN, CCM
Optum Health Education
Disclosures of relevant financial relationships
In accordance with the Accreditation Council for Continuing Medical Education's (ACCME) Standards for Integrity and Independence in Accredited Continuing Education, Optum Health Education (OHE) requires all those in control of educational content to disclose their financial relationships with ineligible companies within the prior 24 months. Ineligible companies are defined by the ACCME as companies whose primary business is producing, marketing, selling, re-selling, or distributing health care products used by or on patients. Individuals must disclose all financial relationships, regardless of the amount, with ineligible companies and regardless of their view of the relevance of the relationship to the education. OHE ensures that the content is independent of commercial bias.
The presenter and planners have no financial relationships to disclose.
Method for calculating CE credit
CE credit was calculated by the complexity of content.
In support of improving patient care, this activity has been planned and implemented by Optum Health Education and UnitedHealthcare. Optum Health Education is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE) and the American Nurses Credentialing Center (ANCC), to provide continuing education for the health care team.
Credit designation statements
This activity was planned by and for the health care team, and learners will receive 1.00 Interprofessional Continuing Education (IPCE) credits for learning and change.
The participant will be awarded up to 1.00 contact hour(s) of credit for attendance and completion of supplemental materials.
The American Academy of Nurse Practitioners Certification Program (AANPCP) accepts credit from organizations accredited by the ACCME and ANCC.
This activity is approved for 1.00 contact hour ([0.10] CEU) in states that recognize ACPE.
Attending the full program will earn 1.00 contact hour.
Unique Activity Number(s): JA0007123-9999-22-154-L01-P/T
Optum Health Education designates this enduring activity for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
The American Academy of Physician Assistants (AAPA) accepts credit from organizations accredited by the ACCME.
The Commission for Case Manager Certification has approved this program for a maximum of 1.00 clock hours for Certified Case Managers (CCM).
Optum Health Education is approved by the American Psychological Association (APA) to offer continuing education for psychologists. Optum Health Education maintains responsibility for this program. 1.00 CE hour.
As a Jointly Accredited Organization, Optum Health Education is approved to offer social work continuing education by the Association of Social Work Boards (ASWB) Approved Continuing Education (ACE) program. Organizations, not individual courses, are approved under this program. State and provincial regulatory boards have the final authority to determine whether an individual course may be accepted for continuing education credit. Optum Health Education maintains responsibility for this course. Social workers completing this course receive 1.00 enduring continuing education credits.
Counselors and/or marriage and family therapists
CA: The Board of Behavioral Sciences has deferred CE course approvals to APA and ASWB for its licensees. See those approvals under Psychologists and Social Workers.
Other States: If your state is not specifically listed, nearly all state Counselor and MFT boards accept either APA or ASWB approval, or are reciprocal with other state licensing board approvals, such as those listed below. Check with your board to be sure.
A certificate of attendance will be provided to learners upon completion of activity requirements, enabling participants to register with licensing boards or associations that have not been preapproved for credits. To apply for credit types not listed above, participants should use the procedure established by the specific organization from which they wish to obtain credit.
- 1.00 ACPE - Pharmacists
- 1.00 ACPE - Pharmacy Technicians
- 1.00 AMA - Physicians
- 1.00 ANCC - Nurses
- 1.00 APA - Psychologists
- 1.00 Attendance - General Attendance
- 1.00 CCMC - General - Case Managers
You must be logged into your account to participate in this activity. Get started by clicking the down arrow under “Pompe Disease and Other Lysosomal Storage Diseases” and viewing the content; then follow the prompts at the bottom of the screen. At the end of the activity, you will be able to view, save or print your certificate of participation. A complete listing of all of your activities can be found under “My Account,” “My Activities.”