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Poll

What do you think will have the biggest impact on FD management in the future?

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Artificial intelligence (AI) screening
   
Genomic medicine
   
Next-generation ERTs
   
Emerging SRTs
   

Tutorial

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Poll

Which aspect of long-term care of patients with FD would you like more support with?

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Recommendations for monitoring organ involvement
   
Treatment-related challenges, e.g. side-effect management
   
Effective HCP–patient communication
   
Optimizing adherence to therapy
   

Tutorial

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Are you confident knowing when to treat patients with FD based on their phenotype?

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Not at all
   
A little
   
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Extremely
   
 
Expert Interviews
Cardiovascular Disease CE/CME accredited

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Experts answer questions with in-depth advice on the current clinical landscape and how new therapies and guidance might impact regional clinical practice. Useful tips below will show how to navigate the activity. Close

The path from detection to personalized long-term care for Fabry disease

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Prof. Aleš Linhart, DSc, FESC, currently heads the Department of Cardiovascular Medicine at the First Medical Faculty and General University Hospital in Prague, Czech Republic. He serves as vice-dean for international affairs at the First Faculty of Medicine of Charles University in Prague. read more

Prof. Linhart obtained his medical degree at Charles University, and received his training in cardiology and vascular medicine at General University Hospital and Broussais Hospital in Paris, France.

In 2004 he was appointed professor at Charles University. His research focuses mainly on Fabry disease, metabolic cardiomyopathies, noninvasive cardiac imaging, and atherosclerosis. He is a member of several scientific societies, including the Czech Society of Cardiology and the European Society of Cardiology (ESC).

Prof. Linhart served as the chairman of the Working Group on Myocardial and Pericardial Diseases of the ESC and is the immediate past-president of the Czech Society of Cardiology. He has authored or co-authored more than 450 scientific peer-reviewed papers, 85 book chapters, and three monographs.

Prof. Aleš Linhart discloses: Advisory board and panel fees from Chiesi and Sanofi. Consultant fees from 4D Molecular Therapeutics, Amicus Therapeutics, Chiesi and Sanofi (relationship terminated). Grants/research support from Sanofi. Other financial or material support (royalties, patent, etc.) from Takeda (relationship terminated). Speaker’s Bureau fees from Amicus Therapeutics, Chiesi, Sanofi and Takeda.

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Dr Wallace is a practising nephrologist and professor of medicine at the University of Alabama at Birmingham (UAB) School of Medicine in the USA, where he directs the UAB Rare Genetic Disease Clinic with a focus on Fabry disease. read more

He became the medical director of telehealth for UAB in January 2017, given his work on telehealth for home dialysis in patients with rare diseases.

Dr Wallace has earned numerous accolades, including the American Society of Nephrology Mid-Career Award. He has served as the principal investigator in numerous studies and clinical trials in Fabry disease. It is his goal to improve access to rare disease care across the USA by adding to the body of knowledge needed to treat patients and improving their access to care with telehealth.

Dr Eric Wallace discloses: Advisory board or panel fees from Sanofi. Consultant fees from Amicus Therapeutics, Chiesi, Sanofi and Walking Fish Therapeutics. Other financial or material support (principal/sub investigator fees for sponsored clinical studies) from Chiesi, Natera and Sanofi.

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Prof. William Wilcox is a clinical, biochemical, and molecular geneticist in the Division of Medical Genetics at the Emory University School of Medicine in the USA. read more

He specializes in the diagnosis and treatment of metabolic disorders and genetic disorders of the skeleton, particularly dwarfisms and limb deficiency disorders.

Prof. Wilcox trained in paediatrics at the University of California, Los Angeles (UCLA) and then medical genetics in the UCLA Intercampus Medical Genetics Training Program. He was then a member of the UCLA paediatrics faculty based in the Medical Genetics Institute at Cedars-Sinai Medical Center in Los Angeles, until relocating to Emory in 2014.

Prof. William Wilcox discloses: Advisory board or panel fees from BioMarin, Chiesi and Sanofi. Consultant fees from Relay Therapeutics, Spark Therapeutics and uniQure. Grants/research support from Amicus Therapeutics and Takeda. Salary/contractual service fees from Prevention Genetics (spouse) and Fulgent Diagnostics (spouse; relationship terminated). Other financial or material support (principal/sub investigator fees for sponsored clinical studies) from 4D Molecular Therapeutics, Alexion, Amicus Therapeutics, BioMarin, Chiesi, Cyclo Therapeutics, Denali Therapeutics, Sangamo, Sanofi and Takeda.

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Learning Objectives

After watching this activity, participants should be better able to:

  • Recognize the importance of early diagnosis and detection of organ involvement in Fabry disease in establishing an effective management plan for individual patients
  • Assess strategies for the long-term monitoring and follow-up of patients with Fabry disease for improved treatment adherence and quality of life
  • Discuss emerging therapeutic options and how they may change the future management of patients with Fabry disease
Overview

In this activity, three leading experts in Fabry disease share valuable clinical insights, each from a different specialty perspective (cardiology, nephrology and clinical genetics). They highlight the importance of early diagnosis of Fabry, including assessment of organ involvement, and strategies for long-term individualized care to achieve optimal treatment adherence and quality of life. The future management of patients with Fabry is also considered, with a focus on emerging treatment options.

This activity is jointly provided by USF Health and touchIME. read more

Target Audience

This activity has been designed to meet the educational needs of internal medicine specialists, clinical geneticists and cardiologists, as well as nephrologists, neurologists, paediatricians and gastroenterologists involved in the long-term care of patients with Fabry disease.

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

Faculty

Prof. Aleš Linhart discloses: Advisory board and panel fees from Chiesi and Sanofi. Consultant fees from 4D Molecular Therapeutics, Amicus Therapeutics, Chiesi and Sanofi (relationship terminated). Grants/research support from Sanofi. Other financial or material support (royalties, patent, etc.) from Takeda (relationship terminated). Speaker’s Bureau fees from Amicus Therapeutics, Chiesi, Sanofi and Takeda.

Dr Eric Wallace discloses: Advisory board or panel fees from Sanofi. Consultant fees from Amicus Therapeutics, Chiesi, Sanofi and Walking Fish Therapeutics. Other financial or material support (principal/sub investigator fees for sponsored clinical studies) from Natera and Sanofi.

Prof. William Wilcox discloses: Advisory board or panel fees from BioMarin, Chiesi and Sanofi. Consultant fees from Relay Therapeutics, Spark Therapeutics and uniQure. Grants/research support from Amicus Therapeutics and Takeda. Salary/contractual service fees from Prevention Genetics (spouse) and Fulgent Diagnostics (spouse; relationship terminated). Other financial or material support (principal/sub investigator fees for sponsored clinical studies) from 4D Molecular Therapeutics, Alexion, Amicus Therapeutics, BioMarin, Chiesi, Cyclo Therapeutics, Denali Therapeutics, Sangamo, Sanofi and Takeda.

Content reviewer

Danielle Walker, DNP, APRN, AGNP-C has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Contributors

Christina Mackins-Crabtree has no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact cpdsupport@usf.edu 

Accreditations

Physicians

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Advanced Practice Providers

Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 31 July 2024. Date credits expire: 31 July 2025.

If you have any questions regarding credit, please contact cpdsupport@usf.ed

 

This activity is CE/CME accredited

To obtain the CE/CME credit(s) from this activity, please complete this post-activity test.

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Topics covered in this activity

Cardiovascular Disease
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touchEXPERT OPINIONS
The path from detection to personalized long-term care for Fabry disease
0.75 CE/CME credit

Question 1/5
Which of the following statements best reflects the onset of early symptom manifestations in males with Fabry disease?

First symptoms in Fabry disease typically emerge during childhood;1 child and adolescent patients (aged <17 years) present with dyshidrosis symptoms (e.g. hypohidrosis), neuropathic involvement and acroparesthesia.2

References

  1. Ortiz A, et al. Mol Genet Metabol. 2018;123:416–27.
  2. Ioro A, et al. Diagnostics. 2024;14:208.
Question 2/5
Your patient is a 14-year-old boy with a classical Fabry disease phenotype who is experiencing neuropathic pain with angiokeratoma. When discussing possible management options with the boy’s parents, they ask you to explain about the implications of ERT as a potential treatment for their son, as they read about it on a Fabry disease advocacy website. How might you advise them?

ERT, enzyme replacement therapy; GI, gastrointestinal; OCT, oral chaperone therapy.

Disease registry and survey data collated over the last two decades have added to the evidence base needed to improve knowledge and understanding of ERT for Fabry disease management.1,2 These real-world data have shown the benefits of early ERT initiation (agalsidase alfa [Europe]; agalsidase beta [Europe; USA]3) on clinical outcomes in Fabry disease, reducing disease progression and protecting patients against organ damage.1  

Abbreviation

ERT, enzyme replacement therapy.

References

  1. Beck M, et al. Orphanet J Rare Dis. 2022;17:238.
  2. Wanner C, et al. Mol Genet Metabol. 2023;139:107603.
  3. Germain DP, Linhart A. Front Genet. 2024;15:1395287.
Question 3/5
You are discussing with a first-year resident how to approach follow-up and monitoring of patients with Fabry disease. They ask you how the medical team can support kidney function and renal outcomes. How would you advise your colleague?

ACE, angiotensin converting enzyme; eGFR, estimated GFR; ERT, enzyme replacement therapy; Gb3, globotriaosylceramide; GFR, glomerular filtration rate; OCT, oral chaperone therapy.

Consensus guidance on the monitoring of organ involvement in patients with Fabry disease receiving disease-specific therapy include the following recommendations for renal monitoring: measured GFR (preferred) or eGFR (using appropriate formulae) performed annually if low risk, every 6 months if moderate risk, and every 3 months if high- to very-high risk. 

Abbreviations

eGFR, estimated GFR; GFR, glomerular filtration rate.

Reference

Ortiz A, et al. Mol Genet Metabol. 2018;123:416–27.

Question 4/5
During journal club, you are discussing the latest data for next-generation ERTs in Fabry disease. In sharing the outcomes of the BALANCE trial comparing pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease, which of the following statements would you consider making to summarize the key findings?

eGFR, estimated GFR; ERT, enzyme replacement therapy; GFR, glomerular filtration rate; TEAE, treatment-emergent adverse event.

In the BALANCE trial, pegunigalsidase alfa (n=52) demonstrated comparable efficacy to agalsidase beta (n=25) based on rate of eGFR decline over 2 years (median change in eGFR slopes −0.36 mL/min/1.73 m2/year). The TEAE rate (events/100 exposure-years) was significantly lower with pegunigalsidase alfa (572) than agalsidase beta (817); rate ratio (95% CI) 0.70 (0.62, 0.80), p<0.0001.   

Abbreviations

CI, confidence interval; eGFR, estimated glomerular filtration rate; TEAE, treatment-emergent adverse event.

Reference

Wallace EL, et al. J Med Genet. 2024;61:520–30.

Question 5/5
Your patient is a 21-year-old male with classic-onset Fabry disease currently taking oral chaperone therapy (migalastat). At a follow-up appointment, he asks you about the prospects for gene therapy within his lifetime, as he recently read a social media post by a patient advocate organization about potentially corrective therapies. How might you respond?

α-Gal A, alpha-galactosidase A; aHUS, atypical haemolytic uraemic syndrome; ERT, enzyme replacement therapy.

Data from the ongoing phase I/II STAAR study1 showed that in adult patients with symptomatic Fabry disease, isaralgagene civaparvovec gene therapy achieved durable, supraphysiological levels of α-Gal A activity for up to 36.2 months. At data cut-off, all 12 participants that discontinued ERT remained ‘off’ ERT for up to 19 months. Treatment was well tolerated, with no prophylactic steroids/other immunomodulatory agents administered, and no LFT elevations requiring steroids.2

Abbreviations

α-Gal A, alpha-galactosidase A; ERT, enzyme replacement therapy; LFT, liver function test.

References

  1. ClinicalTrials.gov. NCT04046224. Available at: https://clinicaltrials.gov/study/NCT04046224 (accessed 04 July 2024).
  2. Hopkin RJ. Presented at the 20th Annual WORLDSymposiumTM, February 4–9, 2024, San Diego, CA, USA. Abstr. #145.
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