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1.
Journal of Neuromuscular Diseases ; 9:S37-S38, 2022.
Article in English | EMBASE | ID: covidwho-2043396

ABSTRACT

The COVID-19 pandemic has further highlighted the management difficulties of NMDs patients and the necessity to continue the program of implementation of standard of care yet started in Europe with the definition of the ERNs and with different applications in the various European countries. It will be increasingly necessary to favor and further develop smart management care through the implementation of IT platforms, telemedicine services and other eHealth technologies. In the near future we are moving towards a health system that supports scientific research, strengthens prevention, and brings medicine home. The outbreak of COVID-19 has forced the health care system to undergo profound rearrangements in its services and facilities. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patients during the lockdown. The rapid and abrupt COVID-19 shutdowns and stay-at-home orders imposed challenges to routine clinical management and clinical trials. The opportunity for real-world evaluation and reduced patient burden are clear benefits to remote assessment and may provide a more robust understanding and characterization of disease impact in NMD. The quality of patient-physician relationship, the modality of remote clinical assessment and monitoring, and the administration of therapies are the key elements to be provided in neuromuscular Telemedicine. Telemedicine permits the maintenance of a close patient-physician relationship. Other important aspect is digital therapies: I.e., access in hospital settings to perform medical therapies that can be performed only and exclusively in protected settings (such as antisense oligonucleotides for SMA or Patisiran for genetic amyloidosis), but some treatments can be home-based, such as subcutaneous immunoglobulins, or enzyme replacement therapy for Pompe disease.

2.
Journal of Neuromuscular Diseases ; 9:S162, 2022.
Article in English | EMBASE | ID: covidwho-2043394

ABSTRACT

Background - During Coronavirus Disease-19 (COVID- 19) pandemic, the temporary and exceptional authorization 341/2020 0f the Italian Drug Agency (AIFA), allowed to guarantee the adherence to treatment for patients with lysosomal storage disorders (LSDs) through home therapy. Stable patients affected with Pompe Disease and Mucopolysaccharidosis type I (MPS I) could then receive regular Enzyme Replacement Therapy (ERT) infusions at home. Indeed, a data collection seemed to us a good opportunity to assess the safety of home infusions and thus fill the existing information gap. Methods - This is an Italian, multicenter, non-interventional, double cohort study sponsored by SanofiGenzyme with both retrospective and prospective data collection to obtain safety information on ERT treatment of Pompe Disease and Mucopolysaccharidosis type I (MPS I) patients in a home-care setting. The study will enroll 60 patients at 15 sites. The retrospective observation will start from the first ERT infusions in a homecare setting and the prospective observation will last after 12 months from the enrollment. During the control visits, investigators will administer the questionnaires and will record any documented clinical data occurred during the home infusions. Objectives - This study aims at obtaining safety information on patients with Pompe Disease treated with Myozyme® (alglucosidase alfa) and of patients with MPS I treated with Aldurazyme® (laronidase) in a home-care setting, as well as evaluating personal satisfaction of both cohorts of patients and documenting infusion compliance. Conclusions - The outcomes will mirror real-life management of patients in home-care infusion setting, including safety profile, treatment compliance and quality of life.

4.
Journal of the Peripheral Nervous System ; 27:S37-S37, 2022.
Article in English | Web of Science | ID: covidwho-1885228
6.
Molecular Genetics and Metabolism ; 135(2):S120, 2022.
Article in English | EMBASE | ID: covidwho-1677223

ABSTRACT

Background: During Coronavirus Disease-19 (COVID-19) pandemic, the way to guarantee the adherence to treatment for patients with lysosomal disorders (LDs) in Italy, was home therapy, allowed by the temporary and exceptional authorization 341/2020 of the Italian Medicines Agency (AIFA). Stable patients affected with Pompe disease and mucopolysaccharidosis type I (MPS I) could then receive regular enzyme replacement therapy (ERT) infusions at home. Indeed, a data collection was considered a good occasion to investigate the safety of home infusions considering that information is still lacking. Methods: This is an Italian, multicenter, non-interventional, double cohort study sponsored by Sanofi Genzyme with both retrospective and prospective data collection to obtain safety information on ERT treatment of Pompe disease and mucopolysaccharidosis type I (MPS I) patients in a home-care setting. The study will enroll 60 patients at 15 sites. The retrospective observation will start from the first ERT infusions in a homecare setting and the prospective observation will last after 12 months from the enrollment. During the control visits, investigators will administer the questionnaires and will record any documented clinical data occurred during the home infusions. Objectives: This study aims at obtaining safety information on patients with Pompe disease treated with alglucosidase alfa and of patients with MPS I treated with laronidase in a home-care setting, as well as evaluating personal satisfaction of both cohorts of patients and documenting infusion compliance. Conclusions: The outcomes will mirror real-life management of patients in home-care infusion setting, including safety profile, treatment compliance and quality of life.

7.
Acta Myologica ; 40(SUPPL 1):41-42, 2021.
Article in English | EMBASE | ID: covidwho-1663193

ABSTRACT

AIGkit is an easy-to-use mobile application, created with the aim of allowing a telematic interaction between adult patient with Pompe disease and clinicians that can be downloaded for free on smartphone. After a first phase, whose results were presented as oral communication at AIM congress in 2018 and 2019, and published as original article in Neuromuscolar Disorders, the second operational phase of the project has been activated for its use in real life and clinical practice. The pre-established goal has been therefore to create an informatic platform for the collection of clinical data where each patient can access through the personal app on their smartphone, in order to allow the registration of their data and facilitate interaction with their clinicians. The design activity and procedures, despite the difficulties encountered in the various phases also caused by the Sars-COVID-19 emergency, were carried out to meet the requirements of the privacy guarantor, in order to activate the use of the platform and the real-time sharing of the data collected remotely on the app of each patients. We are now planning the dissemination of the initiative at national level and the implementation of this project in collaboration with other clinical centers that will be able to use the servers of the Azienda Ospedaliera Universitaria Pisana (AOUP) as coordinating center, thus improving value and utility for users, both patients and clinicians.

8.
Journal of the Neurological Sciences ; 429, 2021.
Article in English | EMBASE | ID: covidwho-1466707

ABSTRACT

Background and aims: SARS-CoV-2 infection is associated with a wide spectrum of neurological complications, including encephalitis. Most cases showed features consistent with a central nervous system (CNS) cytokine-mediated damage. However, few cases arguing for an autoimmune mechanism have been described, mainly as single reports or sparse in large case series involving other CNS manifestations. In this paper, we described a case of definite autoimmune limbic encephalitis (LE) COVID-19 related and reviewed the existing literature on other reported cases. Methods: Two weeks after the onset of COVID-19 infection, a 74-year-old woman presented with subacute confusion and focal motor seizures with impaired awareness, starting from left temporal region. Cerebrospinal fluid analysis revealed hyperproteinorrachia. Brain MRI showed bilateral T2/FLAIR hyperintensities in both hippocampi and total body PET/TC scan revealed hypermetabolism in basal ganglia bilaterally. A diagnosis of autoimmune LE was made. Thus, high dose corticosteroids and antiseizure medications were started, with a marked improvement of neurological conditions. Results: We systematically reviewed the literature to identify all well-documented cases of definite autoimmune LE (according to Graus criteria) in patients with COVID-19 infection, identifying other five cases exhibiting a good response to immunomodulating therapy. Conclusions: A very limited number of autoimmune LE have been described until now. It is important to monitor neurological symptoms in COVID-19 patients and to consider the possibility of an autoimmune LE, in particular when altered mental status and seizures appear late in the disease course. This allows to promptly start the appropriate treatments and avoid unnecessary delays.

10.
European Journal of Translational Myology ; 30(2):286-290, 2020.
Article in English | EMBASE | ID: covidwho-993780

ABSTRACT

The risk of a severe course of COVID-19 is increased in patients suffering with Neuromuscular disorders (NMD) due to the following comorbidities: Muscular weakness of the chest and diaphragm, use of ventilator supports and/or presence of tracheostoma, weak airway clearance, cardiac involvement, rhabdomyolysis, comoribities, steroid and immunosuppressant treatments. NMD display varying levels of disability in people with the same diagnosis, thus it is difficult to give COVID-19 related general recommendations. Present advicess were designed for patients, caregivers, general neurologists and non-specialist medical providers. They address frequently asked questions and basic service requirements and are supported by a series of in-depth references. In this truly unprecedented situation, the clinical management of neuromuscular patients during the COVID-19 epidemics-taking into account the related difficulties (patients who have suspended ERT, difficulty in contacting the doctors, etc.)-we propose to use a telemedicine device, i.e. the AIGkit application (AIGkit app), promoted and developed in 2018 by Fabrizio Seidita on behalf of the Italian Glycogenosis Association (AIG). The app was born to allow patients with Pompe disease to receive as far as possible continuous monitoring of their health. The support of all colleagues of the Italian Association for Myology (AIM) should extend its use to all NMD patients and beyond.

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