Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics

Reyes, Emily de los; Lehwald, Lenora; Augustine, Erika F.; Berry‐Kravis, Elizabeth; Butler, Karen; Cormier, Natalie; Demarest, Scott; Lu, Sam; Madden, J.; Olaya, Joffre; See, Susan; Vierhile, Amy; Wheless, James W.; Yang, Amy; Cohen‐Pfeffer, Jessica; Chu, Dorna; Leal‐Pardinas, Fernanda; Wang, Raymond

doi:10.1016/j.pediatrneurol.2020.04.018

Cited by 15 publications

(6 citation statements)

References 26 publications

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“…MPS I, II, III, CLN1, CLN2) receive little or no benefit from conventional ERT since the recombinant enzymes do not cross the BBB. The problem of passing the BBB can be circumvented by direct intracerebroventricular administration of enzymes via a Rickham device as with cerliponase alfa in CLN2 [ 16 , 17 ]. However, this technique requires repetitive strictly aseptic punctures of the implanted device preferably by an experienced team at a specialist hospital to avoid CNS infections.…”

Section: Discussionmentioning

confidence: 99%

Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme

Hahn

Sato²,

Sonoda³

et al. 2022

Molecular Genetics and Metabolism Reports

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Section: Discussionmentioning

confidence: 99%

Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme

Hahn

Sato²,

Sonoda³

et al. 2022

Molecular Genetics and Metabolism Reports

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“…Although there is no cure for Batten disease, there are approved treatments with enzyme replacement therapy (ERT) and promising research currently being conducted, such as gene therapy. 10 , 12 To date, cerliponase alfa (Brineura; BioMarin Pharmaceutical) is the only Food and Drug Administration approved treatment to slow the progression of one form of Batten disease (CLN2) through ERT. 13 …”

Section: Batten Disease and Rare Diseasesmentioning

confidence: 99%

“…Clinic teams for rare genetic diseases are generally led by a medical provider who acts as the team lead. 12 Teams consist of medical providers, nursing staff, psychologists, physical therapists, occupational therapists, speech therapists, social workers, and other neurodevelopmental professionals. When adapting these teams to telehealth, it will be important for team members to spend some time outlining their individual practices.…”

Section: Building a Multidisciplinary Teammentioning

confidence: 99%

Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases

Scherr

Albright

Reyes

2021

Therapeutic Advances in Rare Disease

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The COVID-19 pandemic transformed the delivery of healthcare across the world. Telehealth has emerged as the primary method for providing healthcare early in the pandemic. Patient and healthcare provider views of the effectiveness of telehealth services are encouraging and support the long-term use of telehealth services in clinical practice. Telehealth may provide a strategy that has far-reaching benefits for diverse patient populations, such as patients with Batten disease and other rare diseases, who face additional barriers to accessing subspecialty healthcare services. The aims of this paper, through the experience of a single Batten Disease Center of Excellence, are to (1) review the benefits and barriers involved in the delivery of telehealth services to patients with rare diseases; (2) discuss components of a model for clinical care that utilizes telehealth services for patients with Batten disease; (3) discuss limitations and future directions of using telehealth in patients with rare diseases. Healthcare systems should consider building clinical models that utilize telehealth services to provide multidisciplinary services to patients with rare diseases. There are numerous benefits in using telehealth that can enhance and expand service delivery between the patient and clinician. Telehealth services can also improve provider-to-provider communication and collaboration when providing clinical care to individuals with rare diseases. Although there are many benefits to utilizing telehealth services in provision of care to patients with rare diseases, it is important to consider factors that may limit or add additional barriers prior to implementing telehealth services. There is a need for future collaborative research to examine and compare the effectiveness and outcomes of telehealth services with standard of care services that are provided in-person. Future research should also examine how to reduce the challenges and barriers associated with the implementation of telehealth services. Plain language summary What is telehealth? Telehealth is defined by the US Department of Health Resources and Services Administrations1 as the “use of electronic information and telecommunication technologies to support long-distance clinical healthcare, patient and professional health-related education, public health, and health administration. Technologies include video conference, the internet, store-and-forward imaging, streaming media, and terrestrial and wireless communication.” What was the aim of this review? This review was conducted to guide a clinical model using telehealth services for patients with Batten disease and other rare diseases based on the experiences of a single Batten Disease Center of Excellence. Why is this important? Individuals with rare diseases may face multiple barriers to accessing clinical services. Local doctors and treatment providers, such as speech therapists, occupational therapists, physical therapists, and psychologists, may not have knowledge of rare diseases or how to manage symptoms and disease progression, or how to guide treatment services. Other barriers may also include: • Lack of local resources; • Increased caregiver stress; • Difficulty obtaining a correct diagnosis. There are numerous benefits to using telehealth services for both patients with rare diseases, such as: • Convenience; • Cost savings; • Improved access to care; • Ability to see multiple providers that can help with symptom monitoring, assessment, and treatment services. Where do we go from here? It is important to consider limitations when creating a model for clinical care for patients with rare diseases. Some limitations to think about are: • Clinician and organization familiarity with telehealth; • Reimbursement and coverage from insurance companies for telehealth; • Security and privacy of patient information; • Training of telehealth providers; • Logistical factors, including use of equipment, internet/connectivity, and technical troubleshooting. Future directions should involve collaborative research that studies the effectiveness, feasibility, and perceptions of families of rare diseases and providers that use telehealth for clinical healthcare services. Research should also further study and consider ways to improve barriers and challenges associated with implementing telehealth systems into existing healthcare systems.

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“…For intra-CSF administration of therapeutic enzymes, the ICV route has proved viable, as exemplified by cerliponase alfa for the treatment of neuronal ceroid lipofuscinosis type 2 [19,20] and idursulfase beta for mucopolysaccharidosis II (MPS II, Hunter syndrome) [21]. However, even after successful drug distribution to the brain parenchyma following intra-CSF administration, significant drug efficacy is not yet fully guaranteed [22], because the CSF remains problematic as a vehicle for drug delivery [23].…”

Section: Introductionmentioning

confidence: 99%

Treatment of Neuronopathic Mucopolysaccharidoses with Blood–Brain Barrier-Crossing Enzymes: Clinical Application of Receptor-Mediated Transcytosis

et al. 2022

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Enzyme replacement therapy (ERT) has paved the way for treating the somatic symptoms of lysosomal storage diseases (LSDs), but the inability of intravenously administered enzymes to cross the blood–brain barrier (BBB) has left the central nervous system (CNS)-related symptoms of LSDs largely impervious to the therapeutic benefits of ERT, although ERT via intrathecal and intracerebroventricular routes can be used for some neuronopathic LSDs (in particular, mucopolysaccharidoses). However, the considerable practical issues involved make these routes unsuitable for long-term treatment. Efforts have been made to modify enzymes (e.g., by fusing them with antibodies against innate receptors on the cerebrovascular endothelium) so that they can cross the BBB via receptor-mediated transcytosis (RMT) and address neuronopathy in the CNS. This review summarizes the various scientific and technological challenges of applying RMT to the development of safe and effective enzyme therapeutics for neuronopathic mucopolysaccharidoses; it then discusses the translational and methodological issues surrounding preclinical and clinical evaluation to establish RMT-applied ERT.

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Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics

Cited by 15 publications

References 26 publications

Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme

Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme

Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases

Treatment of Neuronopathic Mucopolysaccharidoses with Blood–Brain Barrier-Crossing Enzymes: Clinical Application of Receptor-Mediated Transcytosis

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