CME Information

Educational Objectives
Upon completion of this activity, participants should be better able to:
  1. Recognize the signs and symptoms of type 1 Gaucher disease to diagnose the condition early and initiate treatment
  2. Analyze available treatment options for type 1 Gaucher disease and provide appropriate therapy and monitoring based on individual patient needs
  3. Evaluate and apply expert panel–defined goals to the treatment of type 1 Gaucher disease
Intended Audience
This educational activity is intended to educate clinical geneticists and other medical genetics specialists interested in the management and treatment of type 1 Gaucher disease.

Statement of Need
Gaucher disease (GD) is an autosomal recessive metabolic lipid storage disorder that results in devastating medical complications if undiagnosed or diagnosed late. Clinical presentation of GD varies greatly because of the heterozygous nature of the condition, however, it often presents as anemia, peripheral blood cytopenias, hematologic abnormalities due to hypersplenism, skeletal disease, and massive splenomegaly or hepatomegaly of unknown cause.

There are 2 major forms of GD subdivided into 3 different types: non-neuropathic (type 1 [GD1]) and neuropathic (types 2 [GD2] and 3 [GD3]). GD1 is the most common form, occurring in 1 in 50,000 people in most countries. GD1 may present at any age and is marked by low blood platelet counts, anemia associated with fatigue, and related bruising. Splenomegaly and hepatomegaly, skeletal disorders, and lung and kidney dysfunction may occur, however, there are no associated signs of neurologic disorders.

The landscape of GD1 treatment changed dramatically 17 years ago with the advent of enzyme replacement therapy (ERT), which is now widely used worldwide despite a lack of consensus regarding dosing recommendations or even indications for initiating therapy. Delivered via an intravenous infusion twice monthly, ERT with imiglucerase has a favorable safety profile and is beneficial for many patients with GD. However, because of great variation in response to therapy in individual patients, with some patients reporting little or no improvement, and the high cost of therapy, there has been increased interest in treatment approaches that are currently in clinical trials (eg, biosimilar enzymes and chaperone therapies).

Newer treatment options for GD include small molecules that penetrate tissues that are not accessible by ERT. Miglustat, a small iminosugar, is the only commercially available substrate reduction therapy (SRT) for patients with GD1 and the only oral treatment for GD1 approved by the US Food and Drug Administration. Several clinical studies have demonstrated the beneficial effects of miglustat on manifestations of GD1, showing significant reduction of liver and spleen volumes and increased platelet and hemoglobin levels in patients who were either naive to or had discontinued ERT.

Specialists stated that only 20% considered GD in the differential diagnosis for all of its classic symptoms (eg, cytopenia, hepatosplenomegaly, bone pain), suggesting that there is great need for education to increase the likelihood of prompt detection of GD and improve its management.

Accreditation and Certification
This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education through the joint sponsorship of the Annenberg Center for Health Sciences and CogniMed Inc. The Annenberg Center is accredited by the ACCME to provide continuing medical education for physicians.

The Annenberg Center designates this educational activity for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should only claim credit commensurate with the extent of their participation in the activity.

There is no charge for this activity. Statements of Credit will be provided by mail following activity participation and upon completion and submission of the posttest/evaluation to CogniMed Inc. A link to the posttest/evaluation is provided upon completion of the activity. Please allow 4 to 6 weeks for the delivery of your statement.

Privacy Policy
We value the confidentiality of the information you choose to share with us and are committed to its protection. All personal information you provide is stored in a secure location and will never be sold or distributed to any third party.

It is the policy of the Annenberg Center to ensure fair balance, independence, objectivity, and scientific rigor in all programming. All faculty participating in sponsored programs are expected to identify and reference off-label product use and disclose any significant relationship with those supporting the activity or any others whose products or services are discussed.

In accordance with the Accreditation Council for Continuing Medical Education standards, parallel documents from other accrediting bodies, and Annenberg Center policy, the following disclosures have been made:

All staff at the Annenberg Center for Health Sciences at Eisenhower have nothing to disclose.

All staff at CogniMed Inc. have nothing to disclose.

Gregory Pastores, MD, receives honoraria and research support from BioMarin Pharmaceutical Inc., Genzyme Corporation, Protalix Biotherapeutics, and Shire.

Pilar Giraldo, MD, PhD, receives honoraria and serves on the speakers bureaus of Actelion Pharmaceuticals Ltd, Genzyme Corporation, and Shire and is a consultant for Actelion Pharmaceuticals Ltd.

Atul Mehta, MD, FRCP, FRCPath, receives research support from Actelion Pharmaceuticals Ltd, Genzyme Corporation, Protalix Biotherapeutics, and Shire and serves on the speakers bureaus of Genzyme Corporation and Shire.

This activity may contain discussion of investigational uses of pharmacologic and nonpharmacologic therapies. Individual clinical judgments should be used in all patient care decisions.

The ideas and opinions presented in this educational activity are those of the faculty and do not necessarily reflect the views of the Annenberg Center and/or its agents. As in all educational activities, we encourage the practitioners to use their own judgment in treating and addressing the needs of each individual patient, taking into account that patient’s unique clinical situation. The Annenberg Center disclaims all liability and cannot be held responsible for any problems that may arise from participating in this activity or following treatment recommendations presented.

This activity is supported by an independent educational grant provided by Actelion Pharmaceuticals Ltd.

This activity is an enduring material and consists of a Web posting. Successful completion is achieved by viewing the material, reflecting on its implications in your practice, and completing the assessment component.

The estimated time to complete this activity is 1 hour.

This activity was originally released November 30, 2010, and is available for credit through November 30, 2011.

System Requirements
Internet browser:
Netscape version 4.0 or higher, Explorer version 4.0 or higher, or Safari version 1.01 or higher
56K Internet connection or better
Minimum 256 MB RAM
Minimum 800 MHz computer processor

Jointly sponsored by the Annenberg Center for Health Sciences at Eisenhower and CogniMed Inc. This activity is supported by an independent educational grant provided by Actelion Pharmaceuticals Ltd.

© 2010 CogniMed Inc. All rights reserved.   GD12002/ACHS 4770
November 2010