Ksenija Gorni
A5038576080- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- RNA Research and Splicing
- Congenital Anomalies and Fetal Surgery
- RNA and protein synthesis mechanisms
- Neonatal Respiratory Health Research
- Cancer-related gene regulation
- Cardiac Structural Anomalies and Repair
- Congenital Diaphragmatic Hernia Studies
- Cardiomyopathy and Myosin Studies
- Family and Disability Support Research
- Muscle Physiology and Disorders
- Mechanical Circulatory Support Devices
- RNA Interference and Gene Delivery
- Amyotrophic Lateral Sclerosis Research
- Infant Development and Preterm Care
- Congenital Heart Disease Studies
- Cerebral Palsy and Movement Disorders
- Adolescent and Pediatric Healthcare
- Health Systems, Economic Evaluations, Quality of Life
- Spinal Dysraphism and Malformations
- Advanced Breast Cancer Therapies
- Signaling Pathways in Disease
- Parkinson's Disease and Spinal Disorders
- Pharmacological Effects and Toxicity Studies
Roche (Switzerland)
2017-2024
McGill University
2023
Mine Safety Appliances (Switzerland)
2023
University of Oxford
2023
Kentech Instruments (United Kingdom)
2023
Biogen (United Kingdom)
2023
Centro Clinico Nemo
2014
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2007
Fondazione FADOI
2002
Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that caused by low levels of functional survival motor neuron (SMN) protein. Risdiplam an orally administered, small molecule modifies SMN2 pre–messenger RNA splicing and increases SMN
Type 1 spinal muscular atrophy (SMA) is a progressive neuromuscular disease characterized by an onset at 6 months of age or younger, inability to sit without support, and deficient levels survival motor neuron (SMN) protein. Risdiplam orally administered small molecule that modifies SMN2 pre-messenger RNA splicing increases functional SMN protein in blood.We conducted open-label study risdiplam infants with type SMA who were 7 enrollment. Part the (published previously) determined dose be...
Abstract Risdiplam is an oral, survival of motor neuron 2 ( SMN2 ) pre-mRNA splicing modifier approved for the treatment spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, investigated efficacy and safety risdiplam in type non‑ambulant 3 SMA. The primary endpoint was met: significantly greater change from baseline 32-item Motor Function Measure (MFM32) total score observed with compared placebo at month 12. After 12...
Abstract Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for sensitivity these determine their suitability endpoints in clinical trials. Methods Patients with Type 2 3 SMA (N = 81) varied functional abilities (sitters, nonsitters, nonambulant, ambulant) who were not receiving disease‐modifying treatment assessed months: motor function (Motor Function Measure [MFM]), upper...
Abstract Background and purpose Spinal muscular atrophy (SMA) is caused by reduced levels of survival motor neuron (SMN) protein due to deletions and/or mutations in the SMN1 gene. Risdiplam an orally administered molecule that modifies SMN2 pre‐mRNA splicing increase functional SMN protein. Methods SUNFISH Part 1 was a dose‐finding study conducted 51 individuals with types 2 3 SMA aged 2–25 years. A dose‐escalation method used identify appropriate dose for subsequent pivotal 2. Individuals...
Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) risdiplam in previously treated pediatric adult types 1–3 SMA. Here, an analysis performed after all had received at least 1 year risdiplam. Patients confirmed diagnosis 5q-autosomal recessive SMA between ages 6 months 60 years were...
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 Objective Evaluation of ophthalmologic safety with focus on retinal in patients spinal muscular atrophy (SMA) treated risdiplam (EVRYSDI®), a survival motor neuron 2 splicing modifier associated toxicity monkeys. Risdiplam was approved recently for the treatment SMA, aged ≥ months United States, and is currently under Health Authority review EU. Methods Subjects included SMA months–60 years enrolled FIREFISH, SUNFISH, JEWELFISH clinical trials risdiplam. Ophthalmologic assessments,...
The 32-item Motor Function Measure (MFM32) is an assessment of motor function used to evaluate fine and gross ability in patients with neuromuscular disorders, including spinal muscular atrophy (SMA). Reliability validity the MFM32 have been documented individuals SMA. Through semi-structured qualitative interviews (N = 40) online survey eight countries 217) Types 2 3 SMA aged 2-59 years old caregivers, meaning changes on a patient-friendly version was explored. In independent analysis...
Abstract Risdiplam is a once-daily oral, survival of motor neuron 2 ( SMN2 ) splicing modifier approved for the treatment spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated safety, tolerability, pharmacokinetics (PK), and PK/pharmacodynamic (PD) relationship risdiplam in non-treatment-naïve patients with SMA. enrolled adult pediatric N = 174) confirmed diagnosis 5q-autosomal recessive SMA who had previously received nusinersen n 76), onasemnogene abeparvovec 14), olesoxime...
To determine the safety and efficacy of risdiplam (RG7916) in patients with Type 2 or non-ambulant 3 spinal muscular atrophy (SMA) treated for 12 months during confirmatory Part SUNFISH study.
To investigate the validity and reliability of 32-item Motor Function Measure (MFM32) in individuals with neuromuscular disorders (NMD), including spinal muscular atrophy (SMA), aged 2–5 years, non-ambulant Types 2 or 3 SMA, 2–25 years. Test–retest (intraclass correlation coefficient [ICC]), internal consistency (Cronbach's alpha [α]), convergent (Spearman rank-order correlations), known-groups (analysis covariance comparing groups defined by Clinical Global Impression Severity [CGI-S] scale...
In a previous Phase 2 study, olesoxime had favorable safety profile. Although the primary endpoint was not met, analyses suggested that might help in maintenance of motor function patients with Types 2/3 SMA. This open-label extension study (OLEOS) further characterizes safety, tolerability and efficacy over longer therapy durations. OLEOS, no new risks were identified. Compared to matched natural history data, treated demonstrated small, non-significant changes 52 weeks. Motor scores stable...
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting reduced levels SMN protein. protein produced cells throughout body, and evidence suggests that low can have systemic implications, including male reproductive organs. However, paucity research exists on this important topic. This article will discuss findings from non-clinical studies role system; additionally, real-world observational reports...
To determine the efficacy and safety of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA) treated for 12 months during confirmatory Part 2 FIREFISH study.
The amount of assistance required to perform daily activities for individuals with Type 2 and non-ambulant 3 spinal muscular atrophy (SMA) is often cited as meaningful quality life, important routinely assess.The SMA Independence Scale (SMAIS), a patient-reported outcome measure aged ≥12 years, an observer-reported caregivers ≥2 was developed evaluated in two phases. In Phase 1, 30 draft items were following review the literature. Semi-structured interviews then conducted establish content...