Collateral damage of the COVID-19 pandemic on lysosomal storage diseases: A single unit experience: Collateral damage of COVID-19

Aim: COVID-19 epidemic caused significant problems in countries' health systems. The direct and indirect effects of this unprecedented outbreak on patients with rare diseases are not clear. The aim of this study is to identify the pandemic-related problems encountered by adults with LSDs and parents who have children with LSDs and to evaluate the socio-economic and psychological effects of the COVID-19 outbreak in the lysosomal diseases community. Material(s) and Method(s): Our study included 27 adult patients receiving ERT treatment and 19 parents of child patients who were followed up with LSD diagnosis. Sociodemographic Data Form and COVID-19 Traumatic Stress Scale were applied to patients and their parents. Result(s): We found that treatment was disrupted in 44.4% of adult patients and 36.84% of child patients due to the COVID-19 outbreak. We found that 50% of adults and 80% of parents had a fear of going to the hospital due to the COVID-19 pandemic. Economic distress was higher in the treatment-disrupted group. Also, patients who had a fear when going to the hospital for ERT had higher "fear/threat of infection" scores. Discussion(s): The pandemic brought wide-ranging changes in the treatment and follow-up of patients with rare diseases. Home therapy appears to be the most effective way to maintain access to treatment during a pandemic;however, the personnel involved should be monitored and much attention should be paid to the proper use of personal protective equipment. It is also of great importance to provide adequate social, economic and psychological support to individuals.Copyright © 2022, Derman Medical Publishing. All rights reserved.

Collateral damage of the COVID-19 pandemic on lysosomal storage diseases: A single unit experience

Aim: COVID-19 epidemic caused significant problems in countries' health systems. The direct and indirect effects of this unprecedented outbreak on patients with rare diseases are not clear. The aim of this study is to identify the pandemic-related problems encountered by adults with LSDs and parents who have children with LSDs and to evaluate the socio-economic and psychological effects of the COVID-19 outbreak in the lysosomal diseases community. Material and Methods: Our study included 27 adult patients receiving ERT treatment and 19 parents of child patients who were followed up with LSD diagnosis. Sociodemographic Data Form and COVID-19 Traumatic Stress Scale were applied to patients and their parents. Results: We found that treatment was disrupted in 44.4% of adult patients and 36.84% of child patients due to the COVID-19 outbreak. We found that 50% of adults and 80% of parents had a fear of going to the hospital due to the COVID-19 pandemic. Economic distress was higher in the treatment-disrupted group. Also, patients who had a fear when going to the hospital for ERT had higher "fear/threat of infection" scores. Discussion: The pandemic brought wide-ranging changes in the treatment and follow-up of patients with rare diseases. Home therapy appears to be the most effective way to maintain access to treatment during a pandemic;however, the personnel involved should be monitored and much attention should be paid to the proper use of personal protective equipment. It is also of great importance to provide adequate social, economic and psychological support to individuals.

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries.

The impact of the COVID-19 pandemic on the standards of care of patients with lysosomal storage diseases and the needs of their healthcare providers were explored using a 12-question survey. Overall, 80/91 respondents (88%) indicated that the pandemic had negatively affected standards of care. With increased reliance on telemedicine, the respondents highlighted the need for a personalized approach to care, direct and frequent communication with patients, and greater involvement of patients and caregivers.

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.

BACKGROUND: Lysosomal storage disorders (LSDs) are rare, chronic, progressive multisystem diseases implying severe medical issues and psychological burden. Some of these disorders are susceptible to a treatment, which is administered weekly or every other week, in a hospital. During the COVID-19 (Corona Virus Disease 2019) pandemic lockdown, patients with LSDs on enzyme replacement therapy (ERT) missed their scheduled access to the Day Hospital to get their treatment. METHODS: Based on the feeling that our patients were experiencing profound distress, we designed a structured telephone interview with the aim to evaluate how, and to which extent, the pandemic outbreak was changing their behavior and feelings about their chronic disease, the impact on therapies, and future expectations. The same interview was administered to an age-matched control group. RESULTS: All interviewed people experienced an increase of anxiety, worries, and uncertainty fostered by incessant media updates. Moreover, a striking similarity emerged between the groups regarding forced home reclusion and the profound feeling to be excluded by normal life, well-known to those affected by a chronic rare disease. CONCLUSIONS: Although no statistically significant difference was found compared to controls, we felt that the reactions were qualitatively different, underlining the fragility and isolation of such patients.

Potential COVID-19 therapeutics from a rare disease: weaponizing lipid dysregulation to combat viral infectivity.

The coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus (SARS-CoV)-2 has resulted in the death of more than 328,000 persons worldwide in the first 5 months of 2020. Herculean efforts to rapidly design and produce vaccines and other antiviral interventions are ongoing. However, newly evolving viral mutations, the prospect of only temporary immunity, and a long path to regulatory approval pose significant challenges and call for a common, readily available, and inexpensive treatment. Strategic drug repurposing combined with rapid testing of established molecular targets could provide a pause in disease progression. SARS-CoV-2 shares extensive structural and functional conservation with SARS-CoV-1, including engagement of the same host cell receptor (angiotensin-converting enzyme 2) localized in cholesterol-rich microdomains. These lipid-enveloped viruses encounter the endosomal/lysosomal host compartment in a critical step of infection and maturation. Niemann-Pick type C (NP-C) disease is a rare monogenic neurodegenerative disease caused by deficient efflux of lipids from the late endosome/lysosome (LE/L). The NP-C disease-causing gene (NPC1) has been strongly associated with viral infection, both as a filovirus receptor (e.g., Ebola) and through LE/L lipid trafficking. This suggests that NPC1 inhibitors or NP-C disease mimetics could serve as anti-SARS-CoV-2 agents. Fortunately, there are such clinically approved molecules that elicit antiviral activity in preclinical studies, without causing NP-C disease. Inhibition of NPC1 may impair viral SARS-CoV-2 infectivity via several lipid-dependent mechanisms, which disturb the microenvironment optimum for viral infectivity. We suggest that known mechanistic information on NPC1 could be utilized to identify existing and future drugs to treat COVID-19.