Publications by authors named "V RICOTTI"
Background: Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in participants with Duchenne muscular dystrophy (DMD) are ongoing. The success of these trials currently relies on standard functional outcome measures that may exhibit variability within and between participants, rendering their use as sole measures of drug efficacy challenging. Given this, supportive objective biomarkers may be useful in enhancing observed clinical results.
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- The North Star ambulatory assessment (NSAA) is a key measure for tracking motor function in boys with Duchenne muscular dystrophy (DMD), but the minimal clinically important difference (MCID) for NSAA is not well-established, complicating result interpretation.
- This study aimed to estimate the MCID for NSAA using various methods, including statistical approaches and patient/parent feedback, resulting in estimates of 2.3-3.5 points for boys aged 7 to 10 years.
- Findings highlighted that patients and parents view a complete loss of function in one item or a decline in one to two items as significant changes, enhancing the understanding of clinical relevance in NSAA results.
Article Synopsis
- Becker muscular dystrophy (BMD) shows slow progression, highlighting the need for biomarkers to support clinical trials; researchers examined changes in three muscle-enriched biomarkers in BMD patients over four years to evaluate their relation to disease severity and progression.
- The study involved measuring creatine kinase, creatine/creatinine levels, and myostatin in patient serum while assessing functional performance through various tests, revealing a strong correlation between Cr/Crn and myostatin with functional outcomes, but a weak association with creatine kinase.
- Outcomes from 34 patients indicated that specific biomarkers could explain up to 75% of the variance in functional performance, although dystrophin levels did not show a correlation with these biomarkers or patient performance
Artificial intelligence has the potential to revolutionize healthcare, yet clinical trials in neurological diseases continue to rely on subjective, semiquantitative and motivation-dependent endpoints for drug development. To overcome this limitation, we collected a digital readout of whole-body movement behavior of patients with Duchenne muscular dystrophy (DMD) (n = 21) and age-matched controls (n = 17). Movement behavior was assessed while the participant engaged in everyday activities using a 17-sensor bodysuit during three clinical visits over the course of 12 months.
View Article and Find Full Text PDFFriedreich's ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its downregulation and progressively impaired cardiac and neurological function. Current gold-standard clinical scales use simplistic behavioral assessments, which require 18- to 24-month-long trials to determine if therapies are beneficial. Here we captured full-body movement kinematics from patients with wearable sensors, enabling us to define digital behavioral features based on the data from nine FA patients (six females and three males) and nine age- and sex-matched controls, who performed the 8-m walk (8-MW) test and 9-hole peg test (9 HPT).
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