Cargando…
Gene Therapy in Hemophilia: A Transformational Patient Experience
Hemophilia is a bleeding disorder caused by a single absent/defective gene and characterized by a lack of functional clotting factors. People with hemophilia may experience joint damage, pain, and psychological impairments, all of which could contribute to reduced health-related quality of life (HRQ...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472832/ https://www.ncbi.nlm.nih.gov/pubmed/37663068 http://dx.doi.org/10.1177/23743735231193573 |
_version_ | 1785100156950020096 |
---|---|
author | Rasul, Enayet Hallock, Ryan Hellmann, Magnus Konduros, Jay Pembroke, Luke LeCleir, Gregory Malacan, Jean von Mackensen, Sylvia |
author_facet | Rasul, Enayet Hallock, Ryan Hellmann, Magnus Konduros, Jay Pembroke, Luke LeCleir, Gregory Malacan, Jean von Mackensen, Sylvia |
author_sort | Rasul, Enayet |
collection | PubMed |
description | Hemophilia is a bleeding disorder caused by a single absent/defective gene and characterized by a lack of functional clotting factors. People with hemophilia may experience joint damage, pain, and psychological impairments, all of which could contribute to reduced health-related quality of life (HRQoL). The current standard of care is clotting factor replacement, which is associated with regular infusions; therefore, alternative treatments such as gene therapy (GT) are in development. GT involves the delivery of a functional copy of the clotting factor 8/9 gene by a single infusion into the patient's cells, enabling them to produce their own clotting factor VIII/IX. The impact of treatment on patients’ HRQoL can be assessed using hemophilia-specific patient-reported outcome (PRO) measures. Since these measures were designed before the advent of GT, there is a need for updated individualized PRO measures. Patient groups and regulatory authorities emphasize the need for increased patient engagement when considering clinical trial design. Here, we provide patients’ perspective on undergoing GT and discuss how to capture the patient voice when measuring the therapy's transformative impact. |
format | Online Article Text |
id | pubmed-10472832 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-104728322023-09-02 Gene Therapy in Hemophilia: A Transformational Patient Experience Rasul, Enayet Hallock, Ryan Hellmann, Magnus Konduros, Jay Pembroke, Luke LeCleir, Gregory Malacan, Jean von Mackensen, Sylvia J Patient Exp Research Article Hemophilia is a bleeding disorder caused by a single absent/defective gene and characterized by a lack of functional clotting factors. People with hemophilia may experience joint damage, pain, and psychological impairments, all of which could contribute to reduced health-related quality of life (HRQoL). The current standard of care is clotting factor replacement, which is associated with regular infusions; therefore, alternative treatments such as gene therapy (GT) are in development. GT involves the delivery of a functional copy of the clotting factor 8/9 gene by a single infusion into the patient's cells, enabling them to produce their own clotting factor VIII/IX. The impact of treatment on patients’ HRQoL can be assessed using hemophilia-specific patient-reported outcome (PRO) measures. Since these measures were designed before the advent of GT, there is a need for updated individualized PRO measures. Patient groups and regulatory authorities emphasize the need for increased patient engagement when considering clinical trial design. Here, we provide patients’ perspective on undergoing GT and discuss how to capture the patient voice when measuring the therapy's transformative impact. SAGE Publications 2023-08-31 /pmc/articles/PMC10472832/ /pubmed/37663068 http://dx.doi.org/10.1177/23743735231193573 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Research Article Rasul, Enayet Hallock, Ryan Hellmann, Magnus Konduros, Jay Pembroke, Luke LeCleir, Gregory Malacan, Jean von Mackensen, Sylvia Gene Therapy in Hemophilia: A Transformational Patient Experience |
title | Gene Therapy in Hemophilia: A Transformational Patient Experience |
title_full | Gene Therapy in Hemophilia: A Transformational Patient Experience |
title_fullStr | Gene Therapy in Hemophilia: A Transformational Patient Experience |
title_full_unstemmed | Gene Therapy in Hemophilia: A Transformational Patient Experience |
title_short | Gene Therapy in Hemophilia: A Transformational Patient Experience |
title_sort | gene therapy in hemophilia: a transformational patient experience |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472832/ https://www.ncbi.nlm.nih.gov/pubmed/37663068 http://dx.doi.org/10.1177/23743735231193573 |
work_keys_str_mv | AT rasulenayet genetherapyinhemophiliaatransformationalpatientexperience AT hallockryan genetherapyinhemophiliaatransformationalpatientexperience AT hellmannmagnus genetherapyinhemophiliaatransformationalpatientexperience AT kondurosjay genetherapyinhemophiliaatransformationalpatientexperience AT pembrokeluke genetherapyinhemophiliaatransformationalpatientexperience AT lecleirgregory genetherapyinhemophiliaatransformationalpatientexperience AT malacanjean genetherapyinhemophiliaatransformationalpatientexperience AT vonmackensensylvia genetherapyinhemophiliaatransformationalpatientexperience |