Application of Gene Therapy in Hemophilia

Hu, Yuefen; Fang, Yun-hai; Lai, Yue‐Yun; Feng, Xiaoqin; Xu, Shang‐Fu

doi:10.1007/s11596-022-2645-x

Cited by 4 publications

(2 citation statements)

References 40 publications

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“…35 The overall patients' improved satisfaction with their current treatment was reflected in our study as the majority of the survey reported a decline in interest in GT for hemophilia, a new therapeutic option longawaited now approaching clinical practice. 36 However, a large proportion of respondents were above 50 years of age and were likely to have experienced the debilitating effects of long-term hemophilia before the availability of current treatment options; as such, these patients could be more receptive to new therapeutic opportunities.…”

Section: Discussionmentioning

confidence: 99%

Patient Perspective on Disease Burden and Gene Therapy for Hemophilia A and B: The “Haemvolution for Patients” Italian Survey

Mansueto,

Bigi,

Follino

et al. 2024

Semin Thromb Hemost

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Hemophilia is a rare X-linked congenital bleeding disorder due to a deficiency of factor VIII (hemophilia A [HA]) or factor IX (hemophilia B [HB]). Replacement and nonreplacement treatments are available but have limitations. Gene therapy (GT) provides an effective, long-term, single-dose treatment option, now approaching clinical practice. This study aimed to understand patient perspectives on GT for HA and HB in Italy using a qualitative questionnaire distributed through Italian patient associations, addressing patient views on daily life, treatments, unmet needs, quality of life (QoL), and GT for hemophilia. In total, 141 participants had HA, and 14 had HB (severe 78.6%). Daily life was most affected by pain and/or joint function limitations (57.5% of participants), high infusion frequency (42.5%), management of breakthrough bleeding episodes (40.3%), and anxiety/fear of severe or sudden bleeding (38.8%). Despite current treatments, about half of the participants experienced three or more annual bleeding episodes. Most participants knew of GT (87.2%) and expected improvements in QoL (60.5%), reduced frequency of current treatments (53.5%), and a permanent cure (49.1%); 46.4% were unaware of its once-off dosage and 46.4% were not concerned about the costs they anticipated to be associated with GT. Although several fears were reported, 25.0% of participants were willing to undergo GT with the support of a multidisciplinary team. This survey provided valuable insight into patient perspectives on hemophilia and GT in Italy. Overall, relevant proportions of patients still experience limitations affecting their daily life. Most were positive about GT and anticipated improvements in their clinical outcomes and QoL.

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Section: Discussionmentioning

confidence: 99%

Patient Perspective on Disease Burden and Gene Therapy for Hemophilia A and B: The “Haemvolution for Patients” Italian Survey

Mansueto,

Bigi,

Follino

et al. 2024

Semin Thromb Hemost

View full text Add to dashboard Cite

show abstract

“…In recent years, the introduction of exogenous normal genes into target cells by gene transfer technology to treat diseases caused by genetic abnormalities has been called gene therapy technology, which can treat difficult diseases such as cancer, thalassemia, and autoimmune diseases. Gene therapy has become the development trend of modern medicine, 39 , 40 , 41 , 42 , 43 and inhaled gene therapy is the current research area in the field of inhaled medication delivery. 44 , 45 , 46 Under the single-dimensional energy supply, achieving a high energy supply that is necessary for the atomization of high-viscosity liquids is difficult.…”

Section: Introductionmentioning

confidence: 99%