Search

Your search keyword '"Van Rijn, Sanne"' showing total 3 results
Start Over Author "Van Rijn, Sanne"
3 results on '"Van Rijn, Sanne"'

1. 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

2. 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

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

Author

Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, Nieuwland M, Klockgether T, van der Knaap MS, Papadopoulou A, Plueschke K, van Rijn S, Rosenberg N, Saunier-Vivar EF, Dos Santos Vieira B, Hollak CEM, Goettsch WG, and Wolf NI

Subjects
Humans, Nervous System Diseases therapy, Rare Diseases therapy, Registries
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 financing of registries is deemed important but remains challenging because of a lack of widely supported funding models. The proposed framework will guide stakeholders in establishing or improving rare disease registries that fulfill requirements of academics and patients as well as regulators, HTA bodies, and commercial parties. There is a need for more clarity regarding quality requirements for registries in regulatory and HTA context. In addition, independent financing models for registries should be developed, as well as well-defined policies on technical uniformity in health data.

Published
2024
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results