A5027026685- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Cardiac Structural Anomalies and Repair
- Muscle Physiology and Disorders
- Family and Disability Support Research
- Congenital Heart Disease Studies
- Cancer Immunotherapy and Biomarkers
- Metabolism and Genetic Disorders
- Radiomics and Machine Learning in Medical Imaging
- Lung Cancer Treatments and Mutations
- Monoclonal and Polyclonal Antibodies Research
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- Colorectal Cancer Treatments and Studies
- Congenital heart defects research
- Viral Infections and Immunology Research
- CAR-T cell therapy research
- Mitochondrial Function and Pathology
- Cerebral Palsy and Movement Disorders
- HER2/EGFR in Cancer Research
- Cardiomyopathy and Myosin Studies
- Delphi Technique in Research
- Genetic factors in colorectal cancer
Morgan Stanley Children's Hospital
2023-2024
Columbia University
2016-2024
Sarepta Therapeutics (United States)
2024
Columbia University Irving Medical Center
2015-2021
New York University
2021
Barrow Neurological Institute
2021
Centro Clinico Nemo
2020
University of Messina
2020
John Wiley & Sons (United States)
2020
Hudson Institute
2020
ABSTRACT Introduction There is a growing need for robust clinical measure to assess upper limb motor function in spinal muscular atrophy (SMA), as the available scales lack sensitivity at extremes of spectrum. We report development Revised Upper Limb Module (RULM), an assessment specifically designed SMA patients. Methods An international panel with specific neuromuscular expertise performed thorough review currently SMA. This facilitated revision existing make more scale. Results Multiple...
The aim of the study was to establish 12-month changes in Hammersmith Functional motor scale a large cohort SMA patients, identify patterns disease progression and effect different variables. 268 patients were included this multicentric study. Their age ranged between 2.5 55.5 years at baseline, 68 ambulant 200 non-ambulant. baseline scores 0 66 (mean 23.91, SD 20.09). change −14 +9 −0.56, 2.72). Of 206 (76.86%) had −2 +2 points. Ambulant non-ambulant subjects relationship values (p for X...
Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical assessments are 'fit for purpose'. An international collaboration (SMA REACH UK, Italian SMA Network PNCRN USA) undertook an iterative process to address discontinuity the recorded performance of Hammersmith Functional Motor Scale Expanded developed a revised functional scale using Rasch analysis, traditional psychometric techniques...
Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients’ and caregivers’ views relevance Hammersmith Functional Motor Scale Expanded- (HFMSE). First, we used focus groups including SMA patients caregivers their individual activities included HFMSE. Then asked comment possible changes HFMSE scores over time. As functional data were available, some questions tailored according level Part 1:...
The Six-Minute Walk Test (6MWT) was adopted as a clinical outcome measure for ambulatory spinal muscular atrophy (SMA). However, systematic review of measurement properties reported significant variation among chronic pediatric conditions. Our purpose to assess the reliability/validity 6MWT in SMA.Thirty participants performed assessments, including 6MWT, strength, and function. Reproducibility evaluated by intraclass correlation coefficients. Criterion/convergent validity were determined...
The aim of this retrospective multicentric study was to assess developmental milestones longitudinally in type I SMA infants using the Hammersmith Infant Neurological Examination. Thirty-three infants, who classically do not achieve ability sit unsupported, were included study. Our results confirmed that all patients had a score 0 out scale 4 on items assessing sitting, rolling, crawling, standing or walking. A more than only achieved three items: head control (n = 13), kicking 15) and hand...
Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was examine longitudinal changes in the six-minute test (6MWT) evaluate whether age SMA subtype associated decline ambulatory function. Data from three prospective natural history studies were used. Seventy-three participants who performed 6MWT more than once, at least 6 months apart, included; follow-up ranged 0.5–9 years. Only data...
6005 Background: Pembrolizumab (P) is approved to treat patients (pts) with recurrent, metastatic (R/M) head and neck squamous cell carcinoma (HNSCC). BCA101 a first-in-class bifunctional EGFR antibody fused TGFβ immune modulating payload which well tolerated has clinical activity as monotherapy in combination pembrolizumab advanced solid tumors (ESMO 2022 731MO). Here we report the results from interim analysis of an expansion cohort combining BCA101+P first line therapy R/M HNSCC. Methods:...
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...
In solid tumors, the tumor microenvironment (TME) is a complex mix of tumor, immune, stromal cells, fibroblasts, and extracellular matrix. Cytotoxic T lymphocytes (CTLs) constitute fraction immune cells that may infiltrate into TME. The primary function these T-cells to detect eliminate cells. However, due immunosuppressive factors present in TME primarily mediated by Myeloid-Derived Suppressor Cells (MDSCs), Tumor associated macrophages (TAMs), Cancer Associated Fibroblasts (CAFs) as well...
Abstract Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity neither have effective treatment. Inhibiting mammalian target rapamycin (mTOR) pathway has been shown in model mice to extend lifespan attenuate both clinical pathological progression disease. Based on this observation, we treated children with everolimus, a analogue. The child showed sustained...
To expand the clinical phenotype of X-linked HNRNPH2-related neurodevelopmental disorder in 33 individuals.Participants were diagnosed with pathogenic or likely variants HNRNPH2 using American College Medical Genetics and Genomics/Association Molecular Pathology criteria, largely identified via exome sequencing. Genetic reports reviewed. Clinical data collected by retrospective chart review caregiver report including standardized parent measures.We our characterization disorders to include...
Purpose: To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, to establish preliminary thresholds identify individuals at risk for performing poorly on disease-specific motor function outcome measures. Methods: Eighty SMA enrolled an international multicenter natural history study, were evaluated testing the Hammersmith Functional Motor Scale-Expanded. Results: A hip extension joint angle −7.5° or less type 0° 3...
Gait impairment is common in spinal muscular atrophy (SMA) and described using clinical assessments instrumented walkways. Continuous over-ground walking has not been studied.Nine SMA participants completed the 6-minute walk test (6MWT) 10-meter walk/run wearing footwear (SoleSound). Data were simultaneously collected a reference system (GAITRite). The root-mean-square error (RMSE) indicated criterion validity. decrease speed represented fatigue. Foot loading patterns evaluated force...
ABSTRACT Introduction: In this study we evaluated the suitability of a caregiver‐reported functional measure, Pediatric Evaluation Disability Inventory–Computer Adaptive Test (PEDI‐CAT), for children and young adults with spinal muscular atrophy (SMA). Methods: PEDI‐CAT Mobility Daily Activities domain item banks were administered to 58 caregivers SMA. Rasch analysis was used evaluate test properties across SMA types. Results: Unidimensional content each confirmed. The most informative type...
Motor impairments are prevalent in children with neurodevelopmental disorders (NDD) and/or autism spectrum (ASD) and often impact their development quality of life. Early diagnosis can ameliorate lifetime outcomes by enabling earlier access to treatment. However, conventional clinical evaluation methods present some limitations due high phenotypical heterogeneity within the NDDs. Based on expanding research reporting prevalence motor impairments, there is a compelling need develop...
Weakness affects motor performance and causes skeletal deformities in spinal muscular atrophy (SMA). Scoliosis surgery decision-making is based on curve progression, pulmonary function, maturity. Benefits include quality of life, sitting balance, endurance. Post-operative functional decline has not been formally assessed.To assess the impact scoliosis function SMA types 2 3.Prospective data were acquired during a multicenter natural history study. Seventeen participants (12 type 2, 5 3 with...
Conducting functional assessments remotely can help alleviate the burden of in-person assessment on patients with Duchenne muscular dystrophy and their caregivers. The objective this study was to evaluate whether scores from remote correspond same assessments. Remote live stream versus North Star Ambulatory Assessment (including time [seconds] complete 10-meter walk/run rise floor [supine stand]) were assessed using statistical analyses, including intraclass correlation coefficient, Pearson,...
2513 Background: BCA101 is a first-in-class bifunctional fusion protein consisting of an anti-EGFR monoclonal antibody (mAb) and TGFβ receptor 2 extracellular domain (TGFβRII-ECD). Herein, we report the safety, pharmacokinetic (PK), pharmacodynamic (PD), preliminary efficacy data as monotherapy in combination with pembrolizumab among patients (pts) advanced solid tumors refractory to standard therapies. Methods: Pts received single agent (SA) or at escalating doses parallel 3+3 design...
ABSTRACT Introduction : A recent Rasch analysis performed on the Hammersmith Functional Motor Scale—Expanded (HFMSE) in patients with spinal muscular atrophy (SMA) identified issues impacting scale validity, redundant items, and disordered thresholds some items. Methods We modified HMFSE scoring based expert consensus to establish whether traditional overestimated number of changes within 2 points from baseline. Data were collected retrospectively multicenter data sets 255 type 3 SMA...