Manifestations of Gaucher Disease: Rare or Under-recognized?


Tamanna Roshan Lal, MB, ChB, FAAP, FACMG
Medical Geneticist
Director of Clinical Trials
Rare Disease Institute, Children's National Hospital, Washington, DC
Tamanna Roshan Lal, MB, ChB, FAAP, FACMG

Dr. Roshan Lal is a Pediatric Clinical and Metabolic Geneticist working at the Rare Disease Institute, Children’s National Hospital in Washington DC. Her clinical and research interests are geared towards improving the quality of life for children with rare genetic diseases, specifically lysosomal storage diseases and neuro-genetic disorders. Her special interest includes being involved in clinical trials using orphan drugs as well as gene therapy. She is currently the Director of Clinical Trials and Director of International Patient Consultations and Care Referrals for the Rare Disease Institute at the Children’s Hospital.

Coy Heldermon, MD, PhD
Associate Professor, UFHealth
Director of the Pediatric and Adult Multi-Disciplinary Lysosomal Storage Disease Clinics, Gainesville, FL
Coy Heldermon, MD, PhD

Dr. Coy Heldermon is an associate professor of medicine and board-certified medical oncologist at the University of Florida with expertise in the treatment of breast cancer. He is a member of the American Society of Hematology and the American Society of Clinical Oncology. His research expertise is in the use of gene replacement and stem cell therapies for the treatment of inherited disorders such as lysosomal storage diseases.

Neal J. Weinreb, MD, FACP
Voluntary Associate Professor
Department of Human Genetics
University of Miami Miller School of Medicine, Miami, FL
Neal J. Weinreb, MD, FACP

Neal J. Weinreb, MD, FACP is a graduate of the Jewish Theological Seminary (Bachelor of Hebrew Literature), and SUNY Downstate Health Sciences University (MD, summa cum laude). After a residency in Internal Medicine at Albert Einstein College of Medicine and a fellowship and faculty position at Mt. Sinai School of Medicine, NY, he practiced Hematology and Medical Oncology in South Florida. Dr. Weinreb, the director of the University Research Foundation for Lysosomal Storage Diseases in Boca Raton, FL, retired from clinical practice in May 2018. He now devotes his entire professional attention to clinical research about Gaucher Disease and Fabry Disease. Dr Weinreb is a Voluntary Associate Professor of Human Genetics and Medicine at the University of Miami Miller School of Medicine. Dr. Weinreb is an investigator for the Gaucher and Fabry Registries and a member of the Medical Advisory Board for the National Gaucher Foundation and of the International Working Group for Gaucher Disease.

Statement of Need

Gaucher disease (GD) is a genetic disorder that causes fatty substances to accumulate to harmful levels in organs and tissues, often resulting in hepatosplenomegaly, anemia, thrombocytopenia, bone pain and fractures, and conditions like arthritis. GD is rare, and even specialists struggle to recognize and diagnose the condition. Delays to initiation of therapy are common and can result in irreversible complications.

During this 60-minute recorded symposium, expert panelists will discuss GD, including its less commonly reported manifestations, diagnostic pathways, and patient-centric multidisciplinary management of the disorder.

Learning Objectives

  • Identify under-recognized clinical manifestations of GD.
  • Evaluate the efficacy of current diagnostic methods in recognizing rare manifestations in GD.
  • Implement patient-centric management strategies within a multidisciplinary team to optimize long-term outcomes of patients with GD.

Financial Support

Supported by an educational grant from Takeda Pharmaceuticals U.S.A., Inc.

Target Audience

Physician associates (PAs), nurse practitioners (NPs), primary care practitioners, nurses, pharmacists, genetic counselors, and pediatricians, specializing in hematology, neurology, hepatology, gastroenterology, pulmonologists, radiology, and orthopedic surgery

Credit Information

Jointly Accredited Provider

In support of improving patient care, CME Outfitters, LLC, 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 healthcare team.

Interprofessional (IPCE) 1.0

This activity was planned by and for the healthcare team, and learners will receive 1.0 Interprofessional Continuing Education (IPCE) Credit for learning and change.

Physicians (ACCME) 1.0

CME Outfitters, LLC, designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nurses (ANCC) 1.0

This activity is designated for 1.0 contact hour.

Note for California Nurses

This continuing nursing education activity was approved by the California Board of Registered Nursing. CME Outfitters, LLC’s provider number is CEP15510.

Pharmacists (ACPE) 1.0

This application-based activity is approved for 1.0 contact hour (0.10 CEUs) of continuing pharmacy credit.
Activity UAN: JA0007185-0000-23-007-H01-

PAs (AAPA) 1.0

CME Outfitters, LLC, has been authorized by the American Academy of PAs (AAPA) to award AAPA Category 1 CME credit for activities planned in accordance with AAPA CME Criteria. This activity is designated for 1.0 AAPA Category 1 CME credits. Approval is valid until the expiration date listed above. PAs should only claim credit commensurate with the extent of their participation.


Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.0 medical knowledge MOC point 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.

MIPS Improvement Activity

Completion of this accredited CME activity meets the expectations of an Accredited Safety or Quality Improvement Program (IA_PSPA_28) for the Merit-based Incentive Payment Program (MIPS). Clinicians should submit their improvement activities by attestation via the CMS Quality Payment Program website.

Royal College MOC

Through an agreement between the Accreditation Council for Continuing Medical Education and the Royal College of Physicians and Surgeons of Canada, medical practitioners participating in the Royal College MOC Program may record completion of accredited activities registered under the ACCME’s “CME in Support of MOC” program in Section 3 of the Royal College’s MOC Program.

Disclosure Declaration

It is the policy of CME Outfitters, LLC, to ensure independence, balance, objectivity, and scientific rigor and integrity in all of their CE activities. Faculty must disclose to the participants any relationships with commercial companies whose products or devices may be mentioned in faculty presentations, or with the commercial supporter of this CE activity. CME Outfitters, LLC, has evaluated, identified, and mitigated any potential conflicts of interest through a rigorous content validation procedure, use of evidence-based data/research, and a multidisciplinary peer review process.

Dr. Roshan Lal reports the following financial relationships:

Advisory Board: Takeda Pharmaceuticals U.S.A., Inc. (Gaucher Advisory Board)

Consultant: FDNA INC.

Speakers Bureau: BioMarin (PKU)

Dr. Heldermon reports the following financial relationships:

Advisory Board: Chiesi USA, Inc.; Orphazyme; REGENXBIO Inc.; and Sanofi

Consultant: Atheneum; Cardinal Health; Curio Science; Guidepoint Global; IntrinsiQ Specialty Solutions; Reckner Healthcare; Sage Research; Sanofi; Targeted Oncology; and Third Bridge Consulting

Stock Shareholder (ownership Interest): Lacerta Therapeutics

Dr. Weinreb reports the following financial relationships:

Advisory Board: AVROBIO, Inc. (Disease Monitoring Safety Board); Pfizer Inc. (Medical Advisory Board for the Taliglucerase alfa Gaucher Registry); Sanofi (Scientific Advisory Board for the International Collaborative Gaucher Group (ICGG) Gaucher Registry); and Takeda Pharmaceuticals U.S.A., Inc. (Medical Advisory Board for Gaucher Disease)

Consultant: Pfizer Inc. and Sanofi

Speakers Bureau: Sanofi

Disclosures were obtained from the following peer reviewer and CME Outfitters, LLC, staff, with no disclosures to report:

  • Jeffrey Helfand, DO (peer reviewer)
  • Thomas Mitchell (planning committee)
  • Kellie Busby, PharmD (planning committee)
  • Warren Beckman (planning committee)
  • Dimitri Krainc, MD, PhD (planning committee)
  • Susan H. Yarbrough, CHCP (planning committee)
  • Sandra Caballero, PharmD (planning committee)
  • Sharon Tordoff (planning committee)

Faculty of this CE activity may include discussions of products or devices that are not currently labeled for use by the FDA. The faculty have been informed of their responsibility to disclose to the audience if they will be discussing off-label or investigational uses (any uses not approved by the FDA) of products or devices.

Obtaining Credit

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Manifestations of Gaucher Disease: Rare or Under-recognized?
Event Date: 03/07/2023 at 5:00 am EST