Emilio Albamonte
A5084310045- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Family and Disability Support Research
- Children's Physical and Motor Development
- Cerebral Palsy and Movement Disorders
- Muscle activation and electromyography studies
- RNA Research and Splicing
- Neonatal and fetal brain pathology
- Cardiomyopathy and Myosin Studies
- Cardiac Structural Anomalies and Repair
- Infant Development and Preterm Care
- Amyotrophic Lateral Sclerosis Research
- Genetic Neurodegenerative Diseases
- Mechanical Circulatory Support Devices
- Genetics and Neurodevelopmental Disorders
- Adipose Tissue and Metabolism
- Parvovirus B19 Infection Studies
- Epilepsy research and treatment
- Tumors and Oncological Cases
- Musculoskeletal pain and rehabilitation
- Long-Term Effects of COVID-19
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
University of Milan
2018-2025
Centro Clinico Nemo
2016-2025
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2019-2024
Royal Brompton Hospital
2024
University College London
2020-2024
Great Ormond Street Hospital
2020-2024
Evelina London Children's Healthcare
2024
John Wiley & Sons (United States)
2020
Hudson Institute
2020
Istituto Giannina Gaslini
2018
The aim of the study was to report 12-month changes after treatment with nusinersen in a cohort 85 type I spinal muscular atrophy patients ages ranging from 2 months 15 years and 11 months.All were assessed using Children's Hospital Philadelphia Infant Test Neuromuscular Disorders (CHOP INTEND) Hammersmith Neurological Examination-Section (HINE-2).Two had 1 SMN2 copy, 61 copies, 18 3 copies. In 4 copy number not available. At baseline, mean CHOP INTEND scores ranged between 0 52 (mean =...
Abstract Background We report the 4‐year follow‐up in type I patients treated with nusinersen and changes motor, respiratory bulbar function relation to subtype, age SMN2 copy number. Methods The study included SMA 1 at least one assessment after 12, 24 48 months from first dose of nusinersen. assessments used were Children's Hospital Philadelphia Infant Test Neuromuscular Disorders (CHOP INTEND) Hammersmith Neurological Examination (HINE‐II). Results Forty‐eight patients, ages ranging 7...
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...
The aim of the study was to establish 24 month changes in upper limb function using a revised version performance test (PUL 2.0) large cohort ambulant and non-ambulant boys with Duchenne muscular dystrophy identify possible trajectories progression. Of 187 patients studied, 87 were (age range: 7–15.8 years), 90 9.08–24.78). total scores changed significantly over time (p<0.001). Non-ambulant had lower at baseline (mean 19.7) when compared ones 38.4). They also bigger decrease months (4.36 vs...
Background The advent of new therapies has increased the need to achieve early diagnosis in Spinal Muscular Atrophy (SMA). aim present study was define age three main types SMA with pediatric-onset and timing between recognition clinical signs confirmed genetic diagnosis. Methods All patients a type I, II, III followed 5 Italian centers were included this study, assessing at symptoms onset, presenting sign or symptom, diagnosis, interval onset medical investigations conducted order obtain...
To describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients type 2 nonambulant 3 spinal muscular atrophy (SMA).This was 8-year retrospective observational study International SMA Consortium (iSMAc) natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC percent predicted (FVC%P), noninvasive ventilation (NIV) requirement. Hammersmith Functional Motor Scale (HFMS) revised Performance...
The aim of this paper was to report the 2-year follow-up in type I patients treated with Nusinersen and assess whether possible changes motor function are related subtype, age, or SMN2 copy number.Sixty-eight patients, ages ranging from 0.20 15.92 years (mean: 3.96; standard deviation: +3.90) were enrolled study. All assessed using Children's Hospital Philadelphia Infant Test Neuromuscular Disorders (CHOP INTEND) developmental section Hammersmith Neurological Examination (HINE-2) at time...
Abstract The study reports real world data in type 2 and 3 SMA patients treated for at least years with nusinersen. Increase motor function was observed after 12 months during the second year. magnitude of change variable across age functional subgroup, largest changes young higher baseline. When compared to natural history data, difference between cohort untreated swas significant on both Hammersmith Functional Motor Scale Revised Upper Limb Module 24 months.
Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that manifests during early childhood and ultimately fatal. Recently approved treatments targeting the cause of DMD are limited to specific subpopulations patients, highlighting need for therapies with wider applications. Pharmacologic inhibition myostatin, an endogenous inhibitor growth produced almost exclusively in skeletal muscle, has been shown increase mass several species, including humans. Taldefgrobep alfa anti-myostatin...
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).
The advent of therapeutic approaches for Duchenne muscular dystrophy (DMD) has highlighted the need to identify reliable outcome measures young boys with DMD. aim this study was develop a revised version North Star Ambulatory Assessment (NSAA) suitable between age 3 and 5 years by identifying appropriate items revising scoring system accordingly. Using scale in 171 controls 2.9 4.8 years, we identified that were at different points. An item defined as if it completed, achieving full score,...
Objective We report natural history data in a large cohort of 199 patients with spinal muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE). The aim study was to establish annual rate and possible patterns progression according number variables, such as age onset, at assessment, SMN2 copy number, functional status. Methods HFMSE longitudinal changes were piecewise linear mixed‐effects models. dependency due repeated measures accounted for by...
Abstract Objective Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal muscle. We collected pulmonary function testing (PFT) data from large retrospective cohort followed at Centers collaborating the Italian DMD Network. Furthermore, we analyzed PFT associations with different mutation types, genetic variants SPP1 ,...
Abstract Background and purpose Spinal muscular atrophy (SMA) is a rare progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), detectable change (MDC), values for Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. Methods employed two distinct methods. MDC calculated using distribution‐based approaches consider standard error measurement effect size...
The Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM) have been widely used in natural history studies clinical trials. Our aim was to establish how scales relate each other at different age points spinal muscular atrophy (SMA) type 2 3, describe their coherence over 12 mo.The study performed by cross-sectional longitudinal reanalysis of previously published data. analysis 12-mo changes also included concordance between with grouped as stable (±2...
Nusinersen has shown significant functional motor benefit in the milder types of spinal muscular atrophy (SMA). Less is known on respiratory outcomes patients with nusinersen-treated SMA. The aim this study was to describe changes function pediatric SMA type 2 and 3 regular treatment nusinersen within iSMAc international cohort compare their trajectory natural history (NH) data published by consortium 2020.
To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy.We included 122 patients, age ranging between 3 months and 22 years, month. More than 70% (85/122) were older 2 years 25% (31/122) 10 years. Patients classified according to the severity phenotype number SMN2 copies.Patients with more common most severe were, few exceptions, on noninvasive ventilation and, increasing age, often had tracheostomy or >16-hour gastrostomy...
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...