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Molecular Genetics and Metabolism ; 138(2), 2023.
Article in English | EMBASE | ID: covidwho-2244788


The Children's NIHR Clinical Research Facility at Royal Manchester Children's Hospital has been involved in numerous early phase gene therapy trials for diseases such as GM1 gangliosidosis, Gaucher disease, MPSIIIA and MPSII. These trials have necessitated international recruitment which brings challenges for both site and families. In addition, we also actively recruited participants during the Covid-19 global pandemic, amplifying these challenges. A typical patient journey on one of these trials would involve being approached soon after diagnosis due to the rapid progression of these diseases and the need for early intervention. The family would then relocate to the UK with relatively short notice and commence an intensive period of screening involving a lot of extensive information for them to retain and invasive procedures for the patient. Some of these families will speak no English at all which is an additional barrier to managing the parental anxiety and expectations of the trial and its outcome. Once eligibility is confirmed the families are then faced with an extended stay in the UK without the support of their extended family/community. This impacts parent's employment and other siblings who may or may not be with them and who may also be affected by the same disease. Following administration of the gene therapy, participants then commence intensive follow up often associated with immunosuppressants. Close working with the local clinicians is essential for patient safety and trial integrity. Good engagement with families once they have returned to their home country is vital in obtaining continuing trial data and ensuring retention and compliance with attending future visits. Follow up visits are essential for safety and efficacy data for the progression of gene therapy trials. Travel restrictions brought about by the covid 19 pandemic exacerbated these challenges but with good communication and engagement we have mostly overcome them.

Pediatric Infection and Vaccine ; 29(2):70-76, 2022.
Article in English | EMBASE | ID: covidwho-2044251


Coronavirus disease 2019 (COVID-19) in patients with underlying diseases, is associated with high infection and mortality rates, which may result in acute respiratory distress syndrome and death. Mucopolysaccharidosis (MPS) type II is a progressive metabolic disorder that stems from cellular accumulation of the glycosaminoglycans, heparan, and dermatan sulfate. Upper and lower airway obstruction and restrictive pulmonary diseases are common complaints of patients with MPS, and respiratory infections of bacterial or viral origin could result in fatal outcomes. We report a case of COVID-19 in a 16-year-old adolescent with MPS type II, who had been treated with idursulfase since 5 years of age. Prior to infection, the patient’s clinical history included developmental delays, abdominal distension, snoring, and facial dysmorphism. His primary complaints at the time of admission included rhinorrhea, cough, and sputum without fever or increased oxygen demand. His heart rate, respiratory rate, and oxygen saturation were within the normal biological reference intervals, and chest radiography revealed no signs of pneumonia. Consequently, supportive therapy and quarantine were recommended. The patient experienced an uneventful course of COVID-19 despite underlying MPS type II, which may be the result of an unfavorable host cell environment and changes in expression patterns of proteins involved in interactions with viral proteins. Moreover, elevated serum heparan sulfate in patients with MPS may compete with cell surface heparan sulfate, which is essential for successful interaction between the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike protein and the host cell surface, thereby protecting against intracellular penetration by SARS-CoV-2.

Drug Development and Delivery ; 22(4):18-23, 2022.
Article in English | Scopus | ID: covidwho-2012508
Allergy: European Journal of Allergy and Clinical Immunology ; 76(SUPPL 110):493, 2021.
Article in English | EMBASE | ID: covidwho-1570400


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.