An Awareness Survey on COVID-19 among Japanese Patients with Fabry Disease

The purpose of this study was to clarify the effects of the coronavirus disease 2019 (COVID- 19) pandemic on the lives and medical care of Japanese patients with Fabry disease and how healthcare providers can support the continued treatment of these patients in the future. A questionnaire survey was conducted with members of the Japan Fabry Disease Patients and Family Association. The questionnaire was mailed to 156 patients and was returned by 87 (response rate, 56%);83 questionnaires were considered valid and were analyzed. The study found that most of patients with Fabry disease had already received or wanted to receive a vaccine and were "very worried" about COVID- 19. In addition, the COVID- 19 pandemic had changed the patients' lives and affected their physical and mental health. Although the percentage of patients who were able to continue treatment was higher than we expected and the percentage who wanted home infusion therapy was lower than we expected, some patients were anxious about coming to the hospital or had switched to oral pharmacological chaperone therapy. Therefore, to be prepared for pandemics, such as COVID- 19, a system of care at home for patients with Fabry disease should be developed.Copyright © 2022 Jikei University School of Medicine. All rights reserved.

A Fabry Disease Patient Who Developed Hypersensitivity Reaction against Agalsidase Beta following COVID-19 Infection.

Fabry disease (FD) is a rare, X-linked inherited lysosomal storage disorder, characterized by the accumulation of globotriaosylceramide (Gb3) due to the deficiency or absence of alpha-galactosidase A. Due to the accumulation of Gb3, cardiac, renal, neurological, and skin manifestations can be observed. Enzyme replacement therapy (ERT) with agalsidase alfa or agalsidase beta is the cornerstone in the management of FD. Both enzymes are clinically effective and widely used. In this study, we present a 19-year-old male patient with FD who had received ERT for almost two and half years without any complications. In January 2021, he was diagnosed with COVID-19 infection. Later, he developed an infusion reaction during his first ERT infusion following the resolution of COVID-19 infection. The patient experienced shortness of breath, shivering, and rash. Despite decreased infusion rate and premedication in repetitive infusion, his symptoms were not resolved. Subsequently, he developed an IgE antibody against agalsidase beta, and his skin prick test was positive. Since IgG positivity against agalsidase beta was also detected, agalsidase beta was replaced with agalsidase alfa. The patient did not experience any allergic reaction with agalsidase alfa. Moderate to severe allergic reactions during ERT infusion should be alarming for IgE development. Furthermore, COVID-19 should be considered a trigger for allergic reaction against ERT in patients with FD.

SARS Cov-2 infection in a pregnant patient with Fabry's disease type I

Aqui va el texto que falta: Fabry's disease (EF) [OMIM 301500] is a lysosomal deposit disease, linked to an X chromosome, caused by the deficiency of the α-galactosidase enzyme (α gal), which generates the progressive accumulation of globotriaosylceramide (GB3)(2) mainly in vascular endothelium, producing endotheliopathy with important systemic manifestations(3). The factors for critical disease by SARSCov-2, identified in the general population, overlap with symptoms seen in adult patients with EF. Objective: Report the case of a patient with EF type I who presented infection by the SARSCov-2 virus during the third pregnancy quarter. Results: Pregnancy evolved at term without complications;the resolution was segmental cesarean section due to dilatation dystocia, obtaining a single male product in good general conditions, without exacerbation of the symptoms of the EF;The bimonthly trend scheme was maintained with home infusion Agalsidase B. Conclusion: Pregnancy can evolve without complications in patients with EF;that enzymatic replacement therapy is safe during it, and despite the vulnerability of EF patients, SARS COV-2 infection can evolve in a benign way.

SARS Cov-2 infection in a pregnant patient with Fabry's disease type I

Aqui va el texto que falta: Fabry's disease (EF) [OMIM 301500] is a lysosomal deposit disease, linked to an X chromosome, caused by the deficiency of the alpha-galactosidase enzyme (alpha gal), which generates the progressive accumulation of globotriaosylceramide (GB3)(2) mainly in vascular endothelium, producing endotheliopathy with important systemic manifestations(3). The factors for critical disease by SARSCov-2, identified in the general population, overlap with symptoms seen in adult patients with EF. Objective(s): Report the case of a patient with EF type I who presented infection by the SARSCov-2 virus during the third pregnancy quarter. Result(s): Pregnancy evolved at term without complications;the resolution was segmental cesarean section due to dilatation dystocia, obtaining a single male product in good general conditions, without exacerbation of the symptoms of the EF;The bimonthly trend scheme was maintained with home infusion Agalsidase B. Conclusion(s): Pregnancy can evolve without complications in patients with EF;that enzymatic replacement therapy is safe during it, and despite the vulnerability of EF patients, SARS COV-2 infection can evolve in a benign way. Copyright © 2022, Asociacion Regional de Dialisi y Transplantes Renales de Capital Federal y Provincia de Buenos Aires. All rights reserved.

The impact of the COVID-19 pandemic on Fabry Disease Patients: an examination of Mood Status, Therapy Adherence, and COVID-19 infection.

BACKGROUND: Fabry disease (FD) is a rare metabolic disorder, in which a lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined the effects of the COVID-19 pandemic and lockdown measures on the management of FD patients. METHODS: We collected data in three main domains; mood status, adherence to ERT, and COVID-19 infection. We used the Hospital Anxiety and Depression Scale (HADS) to evaluate the mood statuses of FD patients and the Morisky Medication Adherence Scale (MMAS) and the Medication Adherence Report Scale (MARS) to assess patients' adherence to non-disease specific therapy. We also examined a control group to compare the mood status data. RESULTS: A total of 67 FD patients (males: 47.8%, mean age: 37.0 years) were recruited to the study, of which 58 were receiving ERT. Both the HADS depression and anxiety scores were higher in the control group compared to FD patients. During the first wave of the pandemic, 25 patients reported to have missed an infusion for a mean of 2.3 ± 1.7 doses and half of the patients had adopted a home-based infusion treatment regimen. COVID-19 infection developed in 25 patients, of which one died. The majority of our patients (71.6%) have had at least one shot of the vaccine. CONCLUSION: We found that FD patients were more resilient to the negative psychological effects of lockdown. Traumatic growth may be an important factor in explaining this finding. Government-supported home therapy programs might be beneficial for FD patients to increase the therapy adherence.

Impact of COVID-19 on the management of patients with Lysosomal Storage Disorders

Lysosomal storage disorders (LSDs) are a group of inborn errors of metabolism (IEM) characterized by multisystemic involvement with multi-organ complications. The recent Covid-19 pandemic had a major impact on the management and treatment of patients with LSDs, who also experienced significant psychological distress following the pandemic. Several experiences described so far demonstrate that telemedicine and home therapy programs are valid tools for the follow-up and care of patients suffering from these complex chronic diseases.

COVID-19 in Fabry disease: a reference center prospective study.

BACKGROUND: During the coronavirus disease-19 (COVID-19) pandemic, vulnerable populations must be identified to prevent increased mortality. Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to chronic kidney disease (CKD), cardiomyopathy, pneumonopathy and premature strokes. Little is known whether SARS-CoV-2 infection bears a particular risk for FD patients. METHODS: During pandemic (02.2020-03.2021) we have regularly followed 104 unvaccinated FD patients. In 61/104, titre of serum antibodies against SARS-CoV-2 were measured and SARS-CoV-2 PCR test was performed in symptomatic patients or in case of positivity of other family members. The symptoms and duration of COVID-19 were reported by the patients or the treating physician. RESULTS: No deaths or intensive care unit hospitalizations occurred. 13/104 (12.5%) were diagnosed with SARS-CoV-2 infection (16.7% (4/24) men 12.2% (6/49) women of classic phenotype, 25% (3/12) of the men and 0% (0/8) of the women of later- onset phenotype). Of those, 2/13 (15.4%) patients-both kidney transplant recipients-developed severe COVID-19, were hospitalized, and required a high-flow oxygen mask. The rest either developed mild COVID-19 manifestations (8/13, 61.5%) or were asymptomatic (3/13, 23.1%). 2/13 (15.4%) of the patients experienced Fabry pain crisis and 3/13 (23.1%) long COVID-19 like symptoms. CONCLUSIONS: Similar to the general population, in FD patients the risk for severe COVID-19 seems to be driven by the immune system rather than by FD itself. Immunosuppression in kidney transplant recipients represented the highest risk in this population.

The need for home enzyme replacement therapy for patients with lysosomal disease in Japan

[Introduction and Aim] In Europe, Australia, and North and South America, enzyme replacement therapy (ERT) at home is a common practice for patients with lysosomal diseases. In Japan, on the other hand, patients need to visit a specialized hospital every one to two weeks for regular ERT. For the past 10 years, we have been proposing to the government, authorities, and academic societies to realize ERT at home, and under the circumstances of the spread of the COVID-19 in 2020, the need for ERT at home has increased. The purpose of this study was to investigate the patient burden of ERT in Japan for patients with lysosomal diseases (Fabry disease, Gaucher disease, Pompe disease, and MPS) who belong to four major lysosomal disease patient groups in Japan, and to clarify the need for enzyme replacement therapy at home. [Results] In January 2021, we conducted a questionnaire survey of lysosome disease patients and their families via four lysosome disease patient organizations (194 patients in total). Among the patients with lysosomal disease, 57% of them needed to be accompanied by their families. In addition, it took about 40 min each way to visit a specialized hospital and 246 min to stay in the hospital. In Japan, 67% of the patients preferred to receive ERT at a place other than a specialized hospital (home, clinic, school, office, etc.). [Conclusions] It is clear that lysosomal disease patients and their families in Japan are burdened by ERT. As a result of our work to date, in March 2021, 11 enzymes approved in Japan for lysosomal disease will be available for use by home physicians. Were approved to be administered by nurses under the direction of home physicians.

Diagnostic strategy for suspected cases of Fabry disease

Fabry disease (FD) is a progressive, X-linked inherited lysosomal disorder caused by genetic variants in the α-Galactosidase A gene (GLA). Partial or complete deficiency of the enzyme α-Galactosidase A (α-Gal A) results in a progressive accumulation of lipids with terminal α-Galactosyl residues, primarily globotriaosylceramid (Gb3, GL-3) and its deacylated derivative Lyso-GL-3 (Lyso-Gb3) and leads to organ damage. Early diagnosis is vital to prevent clinical complications. We would like to present data from over 65,000 tested cases (males and females) suspicious of FD where both α-Gal A activity together with Lyso-GL-3 levels were measured, followed by confirmatory genetic testing for over 7000 cases. The aim was to demonstrate the benefit of adding Lyso-GL-3 to primary diagnostic screening to avoid unnecessary genetic testing. The results have shown that determination of the enzyme activity combined with the concentration of Lyso-GL-3 (Lyso-Gb3) in Dried Blood Spots (DBS), substantially improved the diagnostic detection of FD in females compared to using enzyme activity alone. In addition, data from validation of innovative self-sampling device for patient sample collection show correlation to DBS results, and it could be utilized for at-home sample collection to significantly improve patient care during current covid-19 time restrictions.

Spanish Fabry and Gaucher disease patients show striking differences in Beliefs about Medicines (BMQ) and Brief Illness Perception (BIPQ) questionnaires

During the last 2 years of Coronavirus SARS-CoV-2 pandemic we witnessed a more personalized approach between lysosomal disease (LD) patients and healthcare professionals. Indeed, in many specialized units of inborn errors of metabolism (IEM) there has been an extraordinary effort to adjust telemedicine and home therapy to the increasing needs of LD patients. Furthermore, in our Spanish Association of IEM (AECOM) a new section (AECOM&Sociedad) was created with the aim to attend the increasing needs of communication, and education in partnership with patient's associations. Along the end of 2020 and first months of 2021 a combined quest including knowledge about the disease, beliefs about medicines (BMQ), and illness perception (BIPQ) was opened on-line among Gaucher (GD) and Fabry (FD) Spanish populations. We obtained 40 GD (55.7% males) and 49 FD (53% males) anonymous responses. The proportion of adults was 87.5% and 96% for GD and FD cohorts, respectively. Results: The Batalla test of knowledge about the own disease showed a very good and similar result for both cohorts (94% GD and 92% FD). However, striking differences were observed concerning disease control (71% GD vs 44% FD), concern about the disease (75% GD vs 90% FD), and emotional affectation (37% GD vs 65% FD). In addition, these results were compared with 35 PKU/HPA patients referring clinical symptoms in 20% of cases compared to 65% GD and 57% FD, high level of disease knowledge and control (94 and 88%, respectively), and lower percentages for disease concern (63%) and emotional affectation (34%). Conclusions: Compared to GD, FD patients report lower perception of disease control, and higher levels of disease concern and emotional affectation. Differences were still wider when comparing FD with PKU patients. These self-reported results add evidence to the high complexity of FD and the need of multidisciplinary care for LD population.

COVID-19 infection in Fabry disease: A systematic cohort study

Background: One of the lessons learnt during the Corona-virus-19 disease (COVID-19) pandemic is that vulnerable populations must be identified early to prevent increased mortality. Fabry disease (FD) is a rare X-linked lysosomal storage disorder leading to chronic kidney disease (CKD), cardiomyopathy, pneumopathy and premature strokes. We aimed to systematically analyse the COVID-19 disease course in our FD cohort. Methods: During pandemic (02.2020-09.2021) we have regularly followed 100 genetically confirmed FD patients. In 61/100, titers of serum antibodies against SARS-CoV-2 were measured in samples drown between 03.20 and 03.21. SARSCoV-2 diagnosis was performed by PCR test. The symptoms and duration of COVID-19 were reported by the patients during the routine clinical visits or via telephone. Results: 13/61 (21.3%) (classic FD: 4/14 men and 6/31 women, late-onset FD: 3/8 men and 0/8 women) FD patients were diagnosed with SARS-CoV-2 infection. 3/13 (23.1%) were asymptomatic (2/3 women of classic but uncomplicated FD, 1/3 man with late-onset FD, LVH, stroke and CKD-StI) and 1/13 (7.7%) patient reported only arthralgias (man, late-onset FD with LVH). Fabry pain crisis reported 38.5% of the patients. 5/13 (38.5%) suffered from mild COVID-19 (2/5 men with classic uncomplicated FD, 3/5 women of classic phenotype). 2/13 (15.4%) patients experienced moderate COVID-19 manifestations (man of classic pheno-type and women of classic phenotype, both without FD-related end-organ damage), with the female patient reporting long-COVID signs. 2/13 patients (15.4%), male one classic and one late-onset phenotype, both kidney transplant recipients with LVH, were hospitalized with severe COVID-19 but only oxygen therapy was needed. Conclusions: During SARS-CoV-2 pandemic, no FD patient died or required ICU. Only two males, kidney recipients, needed hospitalisation. We suggest that FD is not, by itself, a risk factor for severe COVID-19 and the risk is driven, as in general population, from the end-target organ diseases, such as the progressed CKD or kidney transplantation.

In COVID-19 times, can remote rapid drug desensitization (RDD) be possible?

Background: Since 2019, we have experienced a terrible pandemic, COVID-19. Emerging countries, like Brazil, with logistical difficulties and lack of public policies, face a generalized collapse in health system. Rare Diseases Reference Centers are located distant from patients' houses. Thus, patients with lysosomal diseases, unable to travel and need to receive their recombinant enzyme replacement therapy (ERT) close to their homes. Infusion-related reactions (IRR) are uncommon;however, they can impair the treatment. Therefore, due to the impossibility of locomotion and unavailability of teams of allergists, RDD protocol were accomplished. The study aimed to describe remote points of training and protocols execution. Method: After appointments from treating lysosomal centers (TLC) diseases about adverse reactions, the following strategy was adopted: three online meetings between metabolic team and allergists to present the clinical case;lectures about adverse reactions to medications and RDD: video demonstrations off how to perform skin tests and nursing training for the use of. Two meetings were held with the families, terms of consent were applied, and a communication group was created on WhatsApp® with team leaders. Afterwards, the RDD was formulated and applied remotely, by Google Meet®. Finally, three infusions were followed up under the supervision of our center. Results:: Six patients presented immediate IRR to different recombinant enzymes: three patients with Fabry disease, one with MPS I, one with MPS II and one with MPS IV. The Allergy Center located in São Paulo, was composed of a team of allergology and health professionals with expertise in inborn errors of metabolism. The (TLC) were in the interior of São Paulo, Bahia, Pernambuco and Piauí, 300 to 1,800 miles apart. The protocols were carried out respecting the Standard 12-16 steps according to risk stratification. One of the patients, developed urticaria on the 11th step, despite the addition of premedication. Conclusion: The new Coronavirus' pandemic imposed a new reality, which include much more telecommunication. Barriers have been overcome, such as offering remote alternatives to the treatment of incurable diseases in countries with continental dimensions.

Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens.

The urgent need to fight the COVID-19 pandemic has accelerated the development of vaccines against SARS-CoV-2 and approval processes. Initial analysis of two-dose regimens with mRNA vaccines reported up to 95% efficacy against the original strain of the SARS-CoV-2 virus. Challenges arose with the appearance of new strains of the virus, and reports that solid organ transplant recipients may have reduced vaccination success rates after a two-dose mRNA vaccination regimen encouraged health authorities to recommend a booster in immunocompromised patients. Fabry disease is an X-linked inherited lysosomal disorder, which may lead to chronic end-stage renal disease. We report on two patients with advanced Fabry disease, renal graft and adjunctive immunosuppressive therapies who exhibited variable humoral vaccination-related immune responses against SARS-CoV-2 after three vaccine doses. The first patient developed mild COVID-19 infection, while the second patient did not seroconvert after three shots of an mRNA vaccine. Both cases emphasize that patients with Fabry disease and renal graft are susceptible to develop a weak response to COVID-19 vaccination and highlight the importance of maintaining barrier protection measures. Vaccination of family members should be encouraged to lower the risk of viral transmission to immunocompromised, transplanted patients, including vaccinated ones.

Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease.

Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has proven to delay progression of Fabry disease considerably, especially when started early in life. Current research has shown that individuals who have received cardiac or renal transplants or are currently on dialysis have the greatest probability of developing severe manifestations of COVID-19. It has also been shown that people who contract COVID-19 experience a rapid increase in cytokine levels which can lead to a prothrombotic state and have a greater risk in the presence of comorbidities. A history of cardiac or renal transplants as well as the naturally elevated cytokine levels in Fabry disease make it likely that COVID-19 could have a greater impact on the health of these patients. We report the case of a 67-year-old male with diabetes mellitus, history of kidney transplant, and Fabry disease treated late in progression of the disease first with agalsidase beta ERT, then oral migalastat who developed severe manifestations of COVID-19. The autopsy findings showed acute and organizing hyaline membrane disease consistent with COVID-19 pneumonia and secondary invasive bronchopulmonary aspergillosis with cavitary lesion formation. The sections of the heart showed scattered subendocardial fibrosis, and the transplanted kidneys showed thyroidization and interstitial nephritis potentially secondary to COVID-19, in addition to his long-standing renal disease. This case report serves to chronicle complications in a complex patient with late stage Fabry disease and multiple COVID-19 related complications who succumbed from respiratory failure despite the advanced management for the COVID-19 infection.

Considerations for Home-Based Treatment of Fabry Disease in Poland during the COVID-19 Pandemic and Beyond.

Current therapy for Anderson-Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020-2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson-Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson-Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.

α-Galactosidase A Augmentation by Non-Viral Gene Therapy: Evaluation in Fabry Disease Mice.

Fabry disease (FD) is a monogenic X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-Galactosidase A (α-Gal A). It is a good candidate to be treated with gene therapy, in which moderately low levels of enzyme activity should be sufficient for clinical efficacy. In the present work we have evaluated the efficacy of a non-viral vector based on solid lipid nanoparticles (SLN) to increase α-Gal A activity in an FD mouse model after intravenous administration. The SLN-based vector incremented α-Gal A activity to about 10%, 15%, 20% and 14% of the levels of the wild-type in liver, spleen, heart and kidney, respectively. In addition, the SLN-based vector significantly increased α-Gal A activity with respect to the naked pDNA used as a control in plasma, heart and kidney. The administration of a dose per week for three weeks was more effective than a single-dose administration. Administration of the SLN-based vector did not increase liver transaminases, indicative of a lack of toxicity. Additional studies are necessary to optimize the efficacy of the system; however, these results reinforce the potential of lipid-based nanocarriers to treat FD by gene therapy.

Is home-based therapy in Fabry disease the answer to compelling patients' needs during the COVID-19 pandemic? Survey results from the Polish FD Collaborative Group.

BACKGROUND: Fabry disease (FD) is an X-linked disorder related to a deficiency of the lysosomal enzyme alpha-galactosidase A. In Poland, enzyme replacement therapy (ERT) for FD is offered by the National Health Fund only at selected hospital infusion centers. Patients with FB are considered at a high risk of developing complications from COVID-19. Some patients omitted infusions due to fear of infection or outbreaks in hospitals. Lack of alternative infusion sites hampered the situation. OBJECTIVES: To analyze the impact of the SARS-CoV-2 pandemic on FD patients, especially their fears and expectations, the Polish FD Collaborative Group collaborated on a survey project. MATERIAL AND METHODS: Between September and November 2020, we distributed a customized survey exploring expectations and fears among FD subjects. RESULTS: Fifty-five individuals (35 receiving ongoing ERT) from different FD centers completed the study. The median age was 40 years [IQR 25; 50], and gender distribution was almost equal (27 F; 28 M). One-fourth of FD patients reported severe disability limiting transportation for infusions that, in the opinion of the other 25% of responders, consumed >4 h. Forty-four (80%) of all would prefer home infusions performed by a nurse (n = 37, 67.3%) or by a trained non-medical person (n = 7, 12.7%), while 8 (14.5%) patients would choose a local hospital. As expected, transportation time (in one direction) was longer in those preferring home infusions (89.4 ±63 vs 36.2 ±67 min; p = 0.02). Also, those with more severe FD manifestation would prefer home infusions to treatment in FD centers (p = 0.03). The vast majority of respondents (n = 46; 83%) would not change their preferences after pandemic termination. CONCLUSIONS: To maintain ERT, FD patients prefer home infusions or those given in the nearest hospital, especially during a pandemic.

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.

The rapid spread of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 has raised questions about Fabry disease (FD) as an independent risk factor for severe COVID-19 symptoms. Available real-world data on 22 patients from an international group of healthcare providers reveals that most patients with FD experience mild-to-moderate COVID-19 symptoms with an additional complication of Fabry pain crises and transient worsening of kidney function in some cases; however, two patients over the age of 55 years with renal or cardiac disease experienced critical COVID-19 complications. These outcomes support the theory that pre-existent tissue injury and inflammation may predispose patients with more advanced FD to a more severe course of COVID-19, while less advanced FD patients do not appear to be more susceptible than the general population. Given these observed risk factors, it is best to reinforce all recommended safety precautions for individuals with advanced FD. Diagnosis of FD should not preclude providing full therapeutic and organ support as needed for patients with FD and severe or critical COVID-19, although a FD-specific safety profile review should always be conducted prior to initiating COVID-19-specific therapies. Continued specific FD therapy with enzyme replacement therapy, chaperone therapy, dialysis, renin-angiotensin blockers or participation to clinical trials during the pandemic is recommended as FD progression will only increase susceptibility to infection. In order to compile outcome data and inform best practices, an international registry for patients affected by Fabry and infected by COVID-19 should be established.

Impact of COVID-19 pandemic on patients with Fabry disease: An Italian experience.

We conducted an observational study to assess the impact of COVID-19 emergency on management and outcomes of patients with Fabry disease referring to our Center in Naples, Italy. No patient of the 129 included reported suspected symptoms; 3 isolated themselves in auto-quarantine for flu-like symptoms. All treated patients regularly continued their therapies; 8 missed one infusion: 3 for self-isolation with 2 relatives, and 3 refused to receive nurse at home. All elective procedures were deferred and telemedicine was adopted.