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1.
BMJ Open ; 11(6): e048361, 2021 06 22.
Article in English | MEDLINE | ID: covidwho-1280431

ABSTRACT

INTRODUCTION: Voretigene neparvovec-rzyl (Luxturna) was approved by the Australian Therapeutic Goods Administration on 4 August 2020 for the treatment of biallelic mutations in the RPE65 gene, a rare cause of congenital and adult-onset retinal dystrophy (predominantly Leber congenital amaurosis). Previous studies have shown that individuals who might participate in gene therapy trials overestimate clinical effect and underestimate risks. However, little is known about the perspectives of patients who may be offered approved gene therapy treatment for ocular conditions (as distinct from participating in clinical trials of gene therapy). The main objective of this study is to develop a tool to assess knowledge, attitudes and perceptions of approved and future genetic therapies among potential recipients of ocular gene therapy. In addition, we aim to assess the quality of life, attitudes towards clinical trials and vision-related quality of life among this cohort. METHODS AND ANALYSIS: A new 'Attitudes to Gene Therapy for the Eye' tool will be developed following consultation with people with inherited retinal disease (IRD) and content matter experts. Australians with IRD or their guardians will be asked to complete an internet-based survey comprising existing quality of life and visual function instruments and items for the newly proposed tool. We expect to recruit 500 survey participants from patient support groups, the practices of Australian ophthalmologists who are specialists in IRD and Australian ophthalmic research institutions. Launch is anticipated early 2021. Responses will be analysed using item response theory methodology. ETHICS AND DISSEMINATION: This study has received ethics approval from the University of Melbourne (#2057534). The results of the study will be published in a peer-reviewed journal and will be presented at relevant conferences. Organisations involved in recruitment, and the Patient Engagement Advisory committee will assist the research team with dissemination of the study outcomes.


Subject(s)
Leber Congenital Amaurosis , Retinal Diseases , Adult , Australia , Genetic Therapy , Humans , Leber Congenital Amaurosis/genetics , Leber Congenital Amaurosis/therapy , Quality of Life
2.
Transpl Infect Dis ; 22(4): e13286, 2020 Aug.
Article in English | MEDLINE | ID: covidwho-47858

ABSTRACT

During the novel coronavirus pandemic, organ transplant recipients represent a frail susceptible category due to long-term immunosuppressive therapy. For this reason, clinical manifestations may differ from general population and different treatment approaches may be needed. We present the case of a 36-year-old kidney-transplanted woman affected by Senior-Loken syndrome diagnosed with COVID-19 pneumonia after a contact with her positive mother. Initial symptoms were fatigue, dry cough, and coryza; she never had fever nor oxygen supplementation. Hydroxychloroquine and lopinavir/ritonavir were started, and the antiviral drug was replaced with darunavir/cobicistat after 2 days for diarrhea. Immunosuppressant levels were closely monitored, and we observed very high tacrolimus trough levels despite initial dose reduction. The patient was left with steroid therapy alone. The peculiarity of clinical presentation and the management difficulties represent the flagship of our case report. We stress the need for guidelines in transplant recipients with COVID-19 infection with particular regard to the management of therapy.


Subject(s)
Antiviral Agents/adverse effects , Coronavirus Infections/drug therapy , Cytochrome P-450 CYP3A Inhibitors/adverse effects , Graft Rejection/prevention & control , Immunosuppressive Agents/adverse effects , Kidney Transplantation , Lopinavir/adverse effects , Pneumonia, Viral/drug therapy , Ritonavir/adverse effects , Tacrolimus/adverse effects , Adult , Antiviral Agents/therapeutic use , Betacoronavirus , C-Reactive Protein/immunology , COVID-19 , Ciliopathies/complications , Cobicistat/therapeutic use , Common Cold/etiology , Common Cold/physiopathology , Coronavirus Infections/complications , Coronavirus Infections/immunology , Coronavirus Infections/physiopathology , Cough/etiology , Cough/physiopathology , Darunavir/therapeutic use , Deprescriptions , Drug Combinations , Drug Interactions , Enzyme Inhibitors/therapeutic use , Fatigue/etiology , Fatigue/physiopathology , Female , Glucocorticoids/therapeutic use , Humans , Hydroxychloroquine/therapeutic use , Immunocompromised Host/immunology , Interleukin-10/immunology , Interleukin-1beta/immunology , Interleukin-6/immunology , Interleukin-8/immunology , Kidney Diseases, Cystic/complications , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/surgery , Leber Congenital Amaurosis/complications , Methylprednisolone/therapeutic use , Optic Atrophies, Hereditary/complications , Pandemics , Pneumonia, Viral/complications , Pneumonia, Viral/immunology , Pneumonia, Viral/physiopathology , SARS-CoV-2 , Severity of Illness Index
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