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To Treat or Not to Treat: Dilemmas for Rare Diseases Care in A New Therapeutic Era

13 Mar 2024
Venue: Metro Toronto Convention Center
Meeting Room: 701
Clinical Genetics and Therapeutics
  • Accredited:
    • Accredited
  • Primary Categories:
    • Clinical Genetics
  • Secondary Categories:
    • Clinical Genetics
  • Level of Learner:
    • Intermediate

There are approximately 300 gene therapies in development and 30 are estimated to be FDA-approved by 2030. In addition, there are many other rare disease therapies that have either been FDA-approved or undergoing clinical trials. While multiple conditions have reached standard-of-care guidelines, turning management more streamlined, some others continue to spark debate in the community. Moreover, with early or pre-symptomatic genetic diagnosis (newborn screen, for example), the decision to start therapy in asymptomatic individuals may not be clear-cut. These debates will continue to increase in number and importance with the advent of new/improved therapies. Therefore, we propose to host a debate session with a fundamental argument: 'to treat or not to treat'.
The session will include two main topics:                

  • An expert opinion on the impact of vosoritide in the care of patients with achondroplasia: all age-appropriate patients should be offered the option, but should all start on therapy?
    • In the past 3 years vosoritide has been approved for the treatment of patients (ages >=5 years) with achondroplasia. It is expected that treated patients will have increased growth velocity, and attain improved final height, but it is unclear whether it might indirectly reduce the incidence of long-term complications. Dr. Janet Legare, GeneReviews author for the achondroplasia chapter, who has vast experience in administering vosoritide, will be portraying this view.                        
    • However, there is no long-term data available to assess the effects of potential side effects or to demonstrate a definitive reduction in the risk of many long-term complications. Additionally, there could be ethical conflicts such as creating a 'normal' or standard height that all individuals should attain regardless of their circumstances. Dr. Julie Hoover-Fong, expert researcher in skeletal dysplasias , who has participated in the phase II and phase III trials, will be presenting this opposing view                            
    • Disclaimer: data from this novel medication continues to develop. Therefore, the dynamic of this debate is subject to change.                               
  • Fabry disease and heterozygous patients, should all asymptomatic non-classical patients receive ERT?                                       
Fabry disease (FD) is an X-linked condition with two approved ERTs: agalsidase alfa & beta. Current recommendations for both hemizygous and heterozygous individuals (Het-Ind) with classical FD state that ERT should be initiated. Meanwhile, recommendations for non-classical Het-Ind state that ERT initiation “may be” considered if early well-studied clinical signs are present. In addition, the development of lyso-Gb3, a biomarker for disease severity, has been able to facilitate clinical decision-making to start ERT in asymptomatic Het-Ind. Dr. Michael West, nephrologist expert in FD and principal investigator of the Canadian FD Initiative, will present the perspective against early initiation of ERT in asymptomatic non-classical Het-Ind).                        

Despite the description of early clinical signs and lyso-Gb3, it is still unclear when it would be the most beneficial time to start ERT. Some groups argue that early therapy in asymptomatic Het-Ind who present with persistently elevated lyso-Gb3 would still benefit from therapy as it could delay the course of disease. Dr. Robert J. Hopkin, clinical geneticist with vast experience in both research and clinical care for FD will present a perspective in favor of early administration for ERT in asymptomatic non-classical Het-Ind.

Learning Objectives

  1. Evaluate the reported direct and indirect benefits of the administration of biologic agents such as vosoritide
  2. Review the potential long-term side effects of recently approved therapies
  3. Explain the current recommendations for ERT in classical and non-classical hemizygous FD patients
  4. Identify the possible risks of ERT administration in asymptomatic non-classical heterozygous FD patients