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626 results on '"Hollak, Carla E M"'

8. Gene therapy in advanced metachromatic leukodystrophy: tempering expectations.

Author

Schoenmakers, Daphne H, Beerepoot, Shanice, Adang, Laura A, Asbreuk, Marije A B C, Bergner, Caroline G, Bley, Annette E, Boelens, Jaap-Jan, Calbi, Valeria, Darling, Alejandra, Eklund, Erik, Cazorla, Ángeles García, Grønborg, Sabine W, Groeschel, Samuel, Hasselt, Peter M van, Hollak, Carla E M, Horgan, Claire, Jones, Simon, Koning, Tom de, Laugwitz, Lucia, and Lindemans, Caroline

Published
2025
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9. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

Author

Schoenmakers, Daphne H., Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G., Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M., Hollak, Carla E. M., Lindemans, Caroline, Mochel, Fanny, Mol, Peter G. M., Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, and Wolf, Nicole I.

Published
2022
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11. Mapping challenges in the accessibility of treatment products for urea cycle disorders:A survey of European healthcare professionals

Author

Stolwijk, Nina N., Haberle, Johannes, Wagenmakers, Margreet A. E. M., Hollak, Carla E. M., Huidekoper, Hidde H., Bosch, Annet M., Stolwijk, Nina N., Haberle, Johannes, Wagenmakers, Margreet A. E. M., Hollak, Carla E. M., Huidekoper, Hidde H., and Bosch, Annet M.

Abstract

Current management guidelines for urea cycle disorders (UCDs) offer clear strategies, incorporating both authorized and non-authorized medicinal products (including intravenous formulations and products regulated as food). These varying product categories are subject to specific accessibility challenges related to availability, reimbursement, and pricing. The aim of this study is to identify potential obstacles to optimal UCD treatment implementation in European clinical practice. A survey aimed at metabolic healthcare professionals (HCPs) managing patients with UCDs in Europe was disseminated through the European Reference Network for Hereditary Metabolic Disorders and the European registry and network for intoxication type metabolic diseases. Forty-eight survey responses were collected from 21 European countries. In 16 of these countries, at least one metabolic HCP reported challenges in accessing UCD products. Reimbursement issues were reported for most products (8/10), including both authorized and non-authorized products. Availability-related challenges were also reported for 8/10 products, although unavailability was limited to non-authorized products. Prices impacted accessibility for all authorized products (3/3) and one non-authorized IV product. The accessibility of UCD treatment products varied across Europe, although no clear regional variations could be discerned. Survey data revealed that metabolic HCPs experience challenges in accessing both authorized and non-authorized products for UCD management in the majority of European countries. This indicates that registering unauthorized products may not resolve all issues. Improved reimbursement policies and fair pricing models, as well as (adjusted) authorization procedures may help address these concerns, thereby optimizing treatment access for UCD patients.

Published
2024

12. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases

Author

Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, Wolf, Nicole I, Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, and Wolf, Nicole I

Abstract

Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent fin

Published
2024

13. Illustrating the financial consequences of outcome-based payment models from a payers perspective- the case of autologous gene therapy atidarsagene autotemcel (Libmeldy®)

Author

Callenbach, Marcelien H E, Schoenmakers, Daphne, Vreman, Rick A, Vijgen, Sylvia, Timmers, Lonneke, Hollak, Carla E M, Mantel-Teeuwisse, Aukje K, Goettsch, Wim G, Callenbach, Marcelien H E, Schoenmakers, Daphne, Vreman, Rick A, Vijgen, Sylvia, Timmers, Lonneke, Hollak, Carla E M, Mantel-Teeuwisse, Aukje K, and Goettsch, Wim G

Abstract

OBJECTIVES: To illustrate the financial consequences of implementing different managed entry agreements (managed entry agreements for the Dutch healthcare system for autologous gene therapy atidarsagene autotemcel [Libmeldy]), while also providing a first systematic guidance on how to construct managed entry agreements to aid future reimbursement decision making and create patient access to high-cost, one-off potentially curative therapies.METHODS: Three payment models were compared: (1) an arbitrary 60% price discount, (2) an outcome-based spread payment with discounts, and (3) an outcome-based spread payment linked to a willingness to pay model with discounts. Financial consequences were estimated for full responders (A), patients responding according to the predicted clinical pathway presented in health technology assessment reports (B), and unstable responders (C). The associated costs for an average patient during the time frame of the payment agreement, the total budget impact, and associated benefits expressed in quality-adjusted life-years of the patient population were calculated.RESULTS: When patients responded according to the predicted clinical pathway presented in health technology assessment reports (scenario B), implementing outcome-based reimbursement models (models 2 and 3) had lower associated budget impacts while gaining similar benefits compared with the discount (scenario 1, €8.9 million to €6.6 million vs €9.2 million). In the case of unstable responders (scenario C), costs for payers are lower in the outcome-based scenarios (€4.1 million and €3.0 million, scenario 2C and 3C, respectively) compared with implementing the discount (€9.2 million, scenario 1C).CONCLUSIONS: Outcome-based models can mitigate the financial risk of reimbursing atidarsagene autotemcel. This can be considerably beneficial over simple discounts when clinical performance was similar to or worse than predicted.

Published
2024

15. Repurposing empagliflozin in individuals with glycogen storage disease Ib: A value‐based healthcare approach and systematic benefit‐risk assessment

Author

Derks, Terry G. J., primary, Venema, Annieke, additional, Köller, Clara, additional, Bos, Eline, additional, Overduin, Ruben J., additional, Stolwijk, Nina N., additional, Hofbauer, Peter, additional, Bolhuis, Mathieu S., additional, van Eenennaam, Fred, additional, Groen, Henk, additional, Hollak, Carla E. M., additional, and Wortmann, Saskia B., additional

Published
2024
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18. Perspectives and Update on the Global Shortage of Verteporfin (Visudyne®).

Author

Sirks, Marc J., Subhi, Yousif, Rosenberg, Noa, Hollak, Carla E. M., Boon, Camiel J. F., Diederen, Roselie M. H., Yzer, Suzanne, Ossewaarde-van Norel, Jeannette, de Jong-Hesse, Yvonne, Schlingemann, Reinier O., Moss, Rob J., and van Dijk, Elon H. C.

Subjects
POLYPOIDAL choroidal vasculopathy, SCARCITY, EYE care, PHOTODYNAMIC therapy
Abstract

An ongoing global shortage of verteporfin (Visudyne®) limits the treatment possibilities for several chorioretinal diseases, including central serous chorioretinopathy, choroidal hemangioma, and polypoidal choroidal vasculopathy. Verteporfin is required to perform photodynamic therapy in these ocular diseases. Therefore, the current situation has a substantial impact on eye care worldwide. The worldwide supply of verteporfin appears to be manufactured by a single factory, which is situated in the United States. The distribution of verteporfin is done by different companies for different regions of the world. Official communication on the shortage by the responsible companies has been scarce and over the past years several promises with regards to resolution of the shortage have not been fulfilled. The delivery of new batches of verteporfin is at irregular intervals, unpredictable, and may not be fairly balanced between different regions or countries in the world. To ensure a fair distribution of available verteporfin within a country, several measures can be taken. In the Netherlands, a national committee, consisting of ophthalmologists, is in place to arrange this. On the European level, the European Union and European Medicine Agency have plans to monitor medicine shortages more closely and to intervene if necessary. With a more intensified monitoring and regulation of medicine supplies, future impending shortages may be prevented. Remarkably, the amount of medicine shortages is increasing, having a significant and sometimes irreversible impact on patient care. Thus, efforts should be undertaken to minimize the consequences and, whenever possible, to prevent future medicine shortages. [ABSTRACT FROM AUTHOR]

Published
2024
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25. Mucolipidosis type III, a series of adult patients

Author

Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., and Langeveld, Mirjam

Published
2018
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26. Hepatocellular carcinoma in Gaucher disease: an international case series

Author

Regenboog, Martine, van Dussen, Laura, Verheij, Joanne, Weinreb, Neal J., Santosa, David, vom Dahl, Stephan, Häussinger, Dieter, Müller, Meike N., Canbay, Ali, Rigoldi, Miriam, Piperno, Alberto, Dinur, Tama, Zimran, Ari, Mistry, Pramod K., Salah, Karima Yousfi, Belmatoug, Nadia, Kuter, David J., and Hollak, Carla E. M.

Published
2018
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33. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

Author

Linthorst, Gabor E., Burlina, Alessandro P., Cecchi, Franco, Cox, Timothy M., Fletcher, Janice M., Feldt-Rasmussen, Ulla, Giugliani, Roberto, Hollak, Carla E. M., Houge, Gunnar, Hughes, Derralynn, Kantola, Iikka, Lachmann, Robin, Lopez, Monica, Ortiz, Alberto, Parini, Rossella, Rivera, Alberto, Rolfs, Arndt, Ramaswami, Uma, Svarstad, Einar, Tondel, Camilla, Tylki-Szymanska, Anna, Vujkovac, Bojan, Waldek, Steven, West, Michael, Weidemann, F., Mehta, Atul, Zschocke, Johannes, editor, Gibson, K Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2013
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34. Bereiding van geneesmiddelen in de apotheek

Author

Polak, Yasmin, Jacobs, Bart A. W., van den Berg, Sibren, Colen-de Koning, Jantine C. A., Hollak, Carla E. M., Kemper, E. Marleen, Graduate School, APH - Personalized Medicine, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, and Endocrinology

Abstract

Pharmacy compounding of medicines is an essential part of patient care as it enables pharmacists to provide customized pharmaceutical care when no suitable commercial medicine is available. A distinction is made between individual preparations (on prescription for one patient) and stock preparations (for larger groups). Pharmacy compounded medicines can be of added value when specific pharmaceutical care is required, a commercial medicine is unavailable, or for use in clinical scientific research. A number of preconditions require attention to preserve pharmacy compounding in the future. Pharmacists should share technical knowledge on raw materials and pharmacy compounding more, and it is important that medicine development is retained as a basic skill in the education programme. Rational pharmacy compounded medicines should be eligible for reimbursement, taking room for innovation and research in consideration when determining tariffs. This is essential to ensure responsible implementation of pharmacy compounded medicines to improve healthcare availability and affordability.

Published
2023

36. Additional file 2 of The challenges of classical galactosemia: HRQoL in pediatric and adult patients

Author

Hermans, Merel E., van Oers, Hedy A., Geurtsen, Gert J., Haverman, Lotte, Hollak, Carla E. M., Rubio-Gozalbo, M. Estela, and Bosch, Annet M.

Abstract

Additional file 2: Tables S2 to S6. Results of the secondary analyses regarding the differences in HRQoL between patients diagnosed before the introduction of NBS after the presentation of clinical symptoms and patients diagnosed after family screening and/or NBS, and differences in HRQoL between patients with good- and poor intellectual outcome.

Published
2023
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43. Can untreated PKU patients escape from intellectual disability? A systematic review

Author

van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., and van Spronsen, Francjan J.

Published
2018
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46. Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

Author

Hermans, Merel E., primary, van Weeghel, Michel, additional, Vaz, Frédéric M., additional, Ferdinandusse, Sacha, additional, Hollak, Carla E. M., additional, Huidekoper, Hidde H., additional, Janssen, Mirian C. H., additional, van Kuilenburg, André B. P., additional, Pras‐Raves, Mia L., additional, Wamelink, Mirjam M. C., additional, Wanders, Ronald J. A., additional, Welsink‐Karssies, Mendy M., additional, and Bosch, Annet M., additional

Published
2022
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