Alessandra Govoni
A5050312970- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Amyotrophic Lateral Sclerosis Research
- Cell Adhesion Molecules Research
- Neurological disorders and treatments
- ATP Synthase and ATPases Research
- Peripheral Neuropathies and Disorders
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Botulinum Toxin and Related Neurological Disorders
- Cardiac Structural Anomalies and Repair
- Parkinson's Disease Mechanisms and Treatments
- Intracranial Aneurysms: Treatment and Complications
- Connective tissue disorders research
- RNA Interference and Gene Delivery
- Pneumocystis jirovecii pneumonia detection and treatment
- HIV/AIDS drug development and treatment
- Long-Term Effects of COVID-19
- Congenital Diaphragmatic Hernia Studies
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2014-2024
University of Pisa
2020-2024
Azienda Ospedaliero-Universitaria Careggi
2023-2024
University of Milan
2012-2023
Ferrari (Italy)
2018-2023
University of Florence
2023
Ospedale Maggiore
2010-2022
Icahn School of Medicine at Mount Sinai
2022
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2020
Nationwide Children's Hospital
2014
Spinal muscular atrophy (SMA) is the most frequent lethal genetic neurodegenerative disorder in infants. The disease caused by low abundance of survival motor neuron (SMN) protein leading to degeneration and progressive paralysis. We previously demonstrated that a single intravenous injection (IV) self-complementary adeno-associated virus-9 carrying human SMN cDNA (scAAV9-SMN) resulted widespread transgene expression spinal cord neurons SMA mice as well nonhuman primates complete rescue...
Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype variable with loss ambulation in late teenage or mid-life years. There currently no treatment for this condition. In BMD proof-of-principle clinical trial, potent myostatin antagonist, follistatin (FS), was used to inhibit the pathway. Extensive preclinical studies, using adeno-associated virus (AAV) deliver follistatin, demonstrated an increase strength. For we alternatively...
Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort adult Italian patients with spinal muscular atrophy (SMA). Methods Inclusion criteria were: (1) clinical molecular diagnosis SMA2 or SMA3; (2) treatment started age (>18 years); (3) data available at least baseline (T0-beginning treatment) 6 months (T6). Results We included 116 (13 103 SMA3) median first administration 34 years (range 18–72). The Hammersmith Functional Rating Scale Expanded...
Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their definition is fundamental for prognostic therapeutic purposes.We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed retrospective prospective data compared each subtype differential diagnosis purposes.LGMD types 2A 2B the most frequent forms in Italy. The ages at disease onset, progression,...
Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months <8.5 kg has been reported in clinical trials. This study examines efficacy predictors a wide age (22 days-72 months) weight (3.2-17 kg) range, also including patients previously treated with other drugs.46 were 12 between January 2020 March 2022. Safety profile was available another 21 at least 6 month follow-up after OA infusion. 19/67 treatment naïve when OA. Motor function measured the...
Abstract The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed. We investigated the cerebrospinal fluid (CSF) concentration neurofilaments in patients treated with as a potential biomarker efficacy. phosphorylated heavy chain (pNfH) light (NfL) CSF was evaluated before after six months since first...
A multicenter open, randomized, controlled trial was conducted to determine whether primary prophylaxis for Pneumocystis carinii pneumonia and toxoplasmic encephalitis can be discontinued in patients infected with human immunodeficiency virus type 1 (HIV-1) whose CD4+ T cell counts have increased >200 cells/mm3 (and who remained at this level least 3 months) as a result of highly active antiretroviral therapy (HAART). Patients were randomized either the discontinuation arm (i.e., those...
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease characterized by the loss of motor neurons. Motor neuron degeneration probably both cell autonomous and non-autonomous event. Therefore, manipulating diseased microenvironment via non-neural replacement could be therapeutic strategy. We investigated therapy approach using intravascular injection to transplant specific population c-kit+ stem/progenitor cells from bone marrow into SOD1G93A mouse model ALS....
Limb-girdle muscular dystrophy (LGMD) 2L, caused by mutations in the anoctamin 5 (ANO5) gene, is third most common LGMD Northern and Central Europe, where c.191dupA mutation causes majority of cases. We evaluated data from 228 Italian patients to determine prevalence LGMD2L mutation, describe clinical, muscle biopsy, magnetic resonance imaging findings these patients. Forty-three who lacked molecular diagnosis were studied for ANO5 mutations, four novel found three probands. Only one proband...
Since February 2020, the outbreak of COVID-19 in Italy has forced health care system to undergo profound rearrangements its services and facilities, especially worst-hit areas Northern Italy. In this setting, inpatient outpatient had rethink reorganize their activities meet needs patients during "lockdown". The Italian Association Myology developed a survey estimate impact these changes on affected by neuromuscular disorders specialized centers acute phase pandemic.We an electronic that was...
Abstract Background ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from broad geographical area and provide further contextualization results FIREFISH (NCT02913482) interventional risdiplam treatment in SMA. Methods Data were extracted medical records patients with first symptoms attributable SMA between 28 days 3 months age, genetic confirmation SMA, confirmed survival motor neuron 2 copy number two or...
Abstract Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene resulting reduced levels of SMN protein. Nusinersen, first antisense oligonucleotide (ASO) approved for SMA treatment, binds to SMN2 gene, paralogue , and mediates translation functional Here, we used longitudinal high-resolution mass spectrometry (MS) assess both global proteome metabolome cerebrospinal fluid (CSF) from ten type 3 patients, with aim identifying novel readouts...
To analyse the virological and clinical efficacy of cidofovir combined with highly active antiretroviral therapy (HAART) in AIDS-related progressive multifocal leukoencephalopathy (PML).Multicentre observational study consecutive HIV-positive patients histologically or virologically-proven PML. Group A, 26 treated HAART; group B, 14 HAART plus 5 mg/kg intravenously per week for first 2 weeks alternate thereafter. JC virus DNA was quantified cerebrospinal fluid (CSF) by PCR.Baseline...
Abstract Background Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions duplications account approximately 75% of DMD 85% BMD. The implementation techniques allowing complete gene sequencing has focused attention on small point other mechanisms underlying complex rearrangements. Methods We selected 47 patients (41 families; 35 DMD, 6 BMD) without...