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Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines...
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Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Evidence Based Medicine".

Deadline for manuscript submissions: 25 March 2025 | Viewed by 6385

Special Issue Editors

Prof. Dr. Dinko Vitezić

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Guest Editor
1. Department of Clinical Pharmacology, Clinical Hospital Centre Rijeka, Krešimirova 42, 51000 Rijeka, Croatia; 2. Department of Basic and Clinical Pharmacology with Toxicology, Faculty of Medicine, University of Rijeka, Braće Branchetta 20, 51000 Rijeka, Croatia
Interests: clinical pharmacology; pharmacoeconomics; medicines evaluation; pharmacoeconomics; clinical trials; outcomes research; rare diseases; orphan medicines
Special Issues, Collections and Topics in MDPI journals
Dr. Andrej Belančić

E-Mail Website
Guest Editor
1. Department of Clinical Pharmacology, Clinical Hospital Centre Rijeka, Krešimirova 42, 51000 Rijeka, Croatia
2. Department of Basic and Clinical Pharmacology with Toxicology, Faculty of Medicine, University of Rijeka, Braće Branchetta 20, 51000 Rijeka, Croatia
Interests: clinical pharmacology; diabetes; evidence-based medicine; metabolic syndrome; obesity
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Orphan drug can be defined as a medicine for the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition that is rare (affecting not more than five in 10,000 people) or where the medicine is unlikely to generate sufficient profit to justify research and development costs.

The last decade brought important innovations especially regarding the treatment of rare neurological and systemic diseases with neurological complications. The best demonstration of the latter is visible in the pharmacotherapy spectrum for spinal muscular atrophy, since three orphan medicines are registered and available for the same disease—nusinersen, risdiplam, and onasemnogene abeparvovec-xioi.

Randomised clinical trials in rare diseases generally include small, homogeneous groups of patients. This is the reason why various patient populations are under-represented in clinical trials and real-world data collection and disease registry networks are essential to support orphan medication’s effectiveness, safety, and tolerability. The latter can also be used to better understand disease natural histories, improve standards of care, provide opportunities to connect patients with the research community, and monitor patient outcomes, both from a clinical and regulatory perspective. New developments in personalized therapeutics pose significant concerns over orphan medicine pricing and cost-effectiveness, despite the possibility of improving patient health, functionality, and well-being as well as lowering supportive care expenses; thus critical and extensive assessment covering all aspects and perspectives is inevitable.

In this Special Issue on “Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology”, we aim to publish outstanding contributions in the key fields covered by the journal, which will make a great contribution to the community.

Thus, we believe that the JPM is an excellent platform to support such overview on the current real-world knowledge and novelties regarding effectiveness, safety and costs or orphan medicines in neurology.

We hope that our special issue will draw the attention of the readers, scientists, stakeholders and clinicians in general.

Prof. Dr. Dinko Vitezić
Dr. Andrej Belančić
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • effectiveness
  • neurology
  • orphan medicines
  • pharmacoeconomy
  • rare diseases
  • real-word data
  • spinal muscular atrophy

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Published Papers (4 papers)

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10 pages, 719 KiB  
Article
Early Symptoms and Treatment Outcomes in Neuronal Ceroid Lipofuscinosis Type 2: Croatian Experience
by Jelena Radić Nišević, Ivana Kolić, Marija Kostanjski, Franka Kovačević and Igor Prpić
J. Pers. Med. 2024, 14(8), 783; https://doi.org/10.3390/jpm14080783 - 24 Jul 2024
Viewed by 1103
Abstract
Background: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disease that generally appears in children between 2 and 4 years old, leading to seizures and a progressive loss of language and motor functions. As the disease progresses, affected individuals [...] Read more.
Background: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a rare neurodegenerative disease that generally appears in children between 2 and 4 years old, leading to seizures and a progressive loss of language and motor functions. As the disease progresses, affected individuals typically experience blindness and ultimately pass away in late childhood. Treatment with intracerebroventricular cerliponase alfa has been shown to slow the deterioration of motor and language functions compared to the natural progression of the disease. We aim to highlight the early symptoms of CLN2 which help with early diagnosis and timely treatment initiation in children with specific medical indications, as well as identify medical contraindications for enzyme replacement therapy. Methods: We describe five Croatian patients and one Bosnia and Herzegovinian patient with CLN2 disease, analyzing the clinical characteristics, neuroimaging findings, electroencephalogram results, genetic analysis, treatment indications and contraindications, and disease progression. Results: All six patients presented with seizures: focal seizures (n = 1), myoclonic–atonic seizures (n = 1), febrile seizures (n = 2), and tonic–clonic seizures (n = 2), along with language delay (n = 6). Despite this, one patient refused treatment, two were initially included in the clinical trial and then continued treatment, one did not indicate starting treatment, and three continued treatment. One patient, after 4.5 years of treatment, no longer had medical indications for the therapy, which was discontinued. The other two patients who received treatment had a significant slowing of disease progression. Conclusions: The early onset of seizures between ages 2 and 4, alongside delayed language development, is a defining characteristic of CLN2 disease. Enzyme replacement therapy using cerliponase alfa represents the initial treatment for neuronal ceroid lipofuscinosis type 2, targeting the underlying cause of the disease. It effectively delays the progression of language and motor decline in patients diagnosed with this condition. Full article
(This article belongs to the Special Issue Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology)
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11 pages, 1488 KiB  
Article
Switching from Nusinersen to Risdiplam: A Croatian Real-World Experience on Effectiveness and Safety
by Andrej Belančić, Tea Strbad, Marta Kučan Štiglić and Dinko Vitezić
J. Pers. Med. 2024, 14(3), 244; https://doi.org/10.3390/jpm14030244 - 24 Feb 2024
Cited by 5 | Viewed by 2615
Abstract
(1) Background: Data on combination or sequential treatment of spinal muscular atrophy (SMA) with disease-modifying drugs (DMDs) are missing and the latter field is poorly understood. The currently available data of patients on risdiplam previously treated with nusinersen are coming from exploratory research [...] Read more.
(1) Background: Data on combination or sequential treatment of spinal muscular atrophy (SMA) with disease-modifying drugs (DMDs) are missing and the latter field is poorly understood. The currently available data of patients on risdiplam previously treated with nusinersen are coming from exploratory research mainly focused on safety. Our aim was to investigate the real-world effectiveness (hypothesising non-inferiority) and safety profile of risdiplam in a paediatric-and-adult nusinersen–risdiplam spinal muscular atrophy switch cohort. (2) Methods: A retrospective and anonymous collection of relevant demographic and clinical data for all Croatian SMA patients switched from nusinersen to risdiplam up to September 2023 (reimbursed by Croatian Health Insurance Fund—CHIF) was performed using the CHIF database and associated reimbursement documentation. Patients were included in effectiveness and safety analysis if they met the following inclusion criteria: (i) risdiplam was reimbursed by the CHIF; (ii) the patient received at least six doses of nusinersen before the switch to risdiplam; (iii) there was no relevant pause between the latter disease-modifying drugs; (iv) availability of all prespecified studied data and parameters. (3) Results: In total, 17 patients met the inclusion criteria (58.9% female; median age 12.75 (3.0–44.5) years). In our ‘switch’ cohort, we demonstrated a non-inferiority of risdiplam to nusinersen in the SMA 1 (+1.0 in CHOP INTEND; p = 0.067), SMA 3p (+0.7 in HFMSE; p = 0.897), and SMA 3a (+0.8 in RHS; p = 0.463) subpopulations, during a one-year follow-up period. There were no reports on respiratory function worsening, feeding worsening, and no lethal events. No new safety concerns were identified, except for the weight gain that arose as a new potential adverse drug reaction ‘signal’ in two patients. (4) Conclusions: We have reported pivotal real-world findings on switching SMA patients from nusinersen to risdiplam and demonstrated its effectiveness (non-inferiority), safety, and tolerability in a heterogenous paediatric-and-adult ‘switch’ cohort; this will further increase the quality and standards of care as well as safety of a notable portion of SMA patients, especially for those who demand the switch from nusinersen to other DMDs for clinical or personal reasons. Full article
(This article belongs to the Special Issue Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology)
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9 pages, 620 KiB  
Commentary
Effectiveness and Safety of mRNA Vaccines in the Therapy of Glioblastoma
by Zdeslav Strika, Karlo Petković and Robert Likić
J. Pers. Med. 2024, 14(9), 993; https://doi.org/10.3390/jpm14090993 - 19 Sep 2024
Viewed by 1131
Abstract
Glioblastoma (GBM) is the most common and most malignant primary brain tumor, presenting significant treatment challenges due to its heterogeneity, invasiveness, and resistance to conventional therapies. Despite aggressive treatment protocols, the prognosis remains poor, with a median survival time of approximately 15 months. [...] Read more.
Glioblastoma (GBM) is the most common and most malignant primary brain tumor, presenting significant treatment challenges due to its heterogeneity, invasiveness, and resistance to conventional therapies. Despite aggressive treatment protocols, the prognosis remains poor, with a median survival time of approximately 15 months. Recent advancements in mRNA vaccine technology, particularly the development of lipid nanoparticles (LNPs), have revitalized interest in mRNA-based therapies. These vaccines offer unique advantages, including rapid production, personalization based on tumor-specific mutations, and a strong induction of both humoral and cellular immune responses. mRNA vaccines have demonstrated potential in preclinical models, showing significant tumor regression and improved survival rates. Early-phase clinical trials have indicated that mRNA vaccines are safe and can induce robust immune responses in GBM patients. Combining mRNA vaccines with other immunotherapeutic approaches, such as checkpoint inhibitors, has shown synergistic effects, further enhancing their efficacy. However, challenges such as optimizing delivery systems and overcoming the immunosuppressive tumor microenvironment remain. Future research should focus on addressing these challenges and exploring combination therapies to maximize therapeutic benefits. Large-scale, randomized clinical trials are essential to validate the efficacy and safety of mRNA vaccines in GBM therapy. The potential to reshape the tumor microenvironment and establish long-term immunological memory underscores the transformative potential of mRNA vaccines in cancer immunotherapy. Full article
(This article belongs to the Special Issue Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology)
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13 pages, 268 KiB  
Perspective
Development Perspectives for Curative Technologies in Primary Demyelinating Disorders of the Central Nervous System with Neuromyelitis Optica Spectrum Disorder (NMOSD) and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) at the Forefront
by János György Pitter, László Nagy, Balázs Nagy and Rok Hren
J. Pers. Med. 2024, 14(6), 599; https://doi.org/10.3390/jpm14060599 - 4 Jun 2024
Viewed by 1027
Abstract
Primary demyelinating disorders of the central nervous system (CNS) include multiple sclerosis and the orphan conditions neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein IgG-associated disease (MOGAD). Curative technologies under development aim to selectively block autoimmune reactions against specific autoantigens while preserving [...] Read more.
Primary demyelinating disorders of the central nervous system (CNS) include multiple sclerosis and the orphan conditions neuromyelitis optica spectrum disorder (NMOSD) and myelin oligodendrocyte glycoprotein IgG-associated disease (MOGAD). Curative technologies under development aim to selectively block autoimmune reactions against specific autoantigens while preserving the responsiveness of the immune system to other antigens. Our analysis focused on target patient selection for such developments, carefully considering the relevant clinical, regulatory, and market-related aspects. We found that the selection of patients with orphan conditions as target populations offers several advantages. Treatments for orphan conditions are associated with limited production capacity, qualify for regulatory incentives, and may require significantly shorter and lower-scale clinical programs. Furthermore, they may meet a higher acceptable cost-effectiveness threshold in order to compensate for the low numbers of patients to be treated. Finally, curative technologies targeting orphan indications could enter less competitive markets with lower risk of generic price erosion and would benefit from additional market protection measures available only for orphan products. These advantages position orphan conditions and subgroups as the most attractive target indications among primary demyelinating disorders of the CNS. The authors believe that after successful proof-of-principle demonstrations in orphan conditions, broader autoimmune patient populations may also benefit from the success of these pioneering developments. Full article
(This article belongs to the Special Issue Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology)
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