Rare Disease Discussions Peter Ciszewski, CheckRare

In this episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder.

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

This is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.

Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

In this first part of our four-part series on Fabry disease, we feature William Burns, MD, a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns summarizes this rare disease, including current management strategies.

Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.
The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.

Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.

Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.

Ozlem Goker-Alpan, MD, Founder and President, LDRTC and David G. Warnock, MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders.

This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.

To receive credit for this program, go to https://checkrare.com/learning/

Speakers
Ozlem Goker-Alpan, MD, Founder and President, LDRTC
David G. Warnock, MD. Professor of Medicine (Emeritus)
University of Alabama at Birmingham

Disclosures
AffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.
Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.
Dr. Warnock has had research support and/or consulting arrangements with Genzyme Corporation (Sanofi), Shire LLC (Takeda), Amicus, Protalix and Chiesi, Zebra Bio, Walking Fish, Hanmi, and Vera Therapeutics.

Mitigation of Relevant Financial Relationships
AffinityCE 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 CME 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. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.


Learning ObjectivesAt the end of this activity, participants should be able to:Describe the role of the nephrologist in the team approach to careDescribe best practices to monitor kidney function in lysosomal disordersDescribe best practices to treat kidney disorders lysosomal disorders
Support for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

This 16-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the future treatment options for patients with hereditary angioedema (HAE) presented at ACAAI 2023.
Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.25 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hae-treatment-advances-highlights-from-acaai/


Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Understand clinical data of treatments in development for HAE

Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. 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. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.25 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements,...

This 25-minute CME-accredited program, hosted by Aleena Banerji, MD, Associate Professor at Harvard Medical School and Clinical Director of the Massachusetts General Hospital ( MGH) Allergy and Immunology Unit, highlights the current treatment options for patients with hereditary angioedema (HAE).

Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Ionis Pharmaceuticals Inc.
Estimated time to complete: 0.50 hours
Start date: January 31, 2024
End date: January 30, 2025

To obtain CME credit, go to https://checkrare.com/learning/p-hereditary-angioedema-current-treatment-options/

Activity Faculty
Aleena Banerji, MD Associate Professor Clinical Director, MGH Allergy and Immunology Unit Harvard Medical School Massachusetts General Hospital Boston, MA

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in allergy medicine, immunology, internal medicine, and pediatrics who may be involved in the care for individuals with HAE. Other healthcare providers (HCPs) may also participate.

Learning Objectives
After participating in the activity, learners should be better able to
• Review current guidelines and unmet needs of patients with HAE


Accreditation and Credit Designation
In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. 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. Physicians American Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 CreditsTM.

Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Other HCPs Other members of the care team will receive a certificate of participation.

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:
Faculty Educator
Dr. Banerji discloses the following relevant financial relationships with ineligible companies:
• Research Grant: Takeda, Ionis Pharmaceuticals, Astria
• Advisory Board: Takeda, BioCryst, Astria, Intellia, CSL Behring, KalVista, ADARx

Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information. The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.

Method of Participation
There are no fees to participate in the activity. Participants must review the activity information including the learning objectives and disclosure statements, as well as...