Publications by authors named "Cesar Ochoa-Lubinoff"
Article Synopsis
- Angelman Syndrome (AS) is a rare neurogenetic disorder impacting intellectual and motor functions, creating challenges in assessing its severity and treatment responses, prompting the need for specialized rating scales.
- The Clinical Global Impressions scale was adapted for AS, called CGI-S-AS and CGI-I-AS, and was utilized in a trial of the drug gaboxadol to evaluate its effectiveness in managing the condition.
- Validation of the CGI-I-AS showed it aligns well with other rating scales, highlighting effective monitoring of sleep symptoms, while also underscoring areas needing improvement in assessing communication-related effects.
Purpose: To evaluate efficacy and safety of gaboxadol for treatment of children with Angelman syndrome (AS).
Method: In this international, double-blind, phase 3 trial, we randomized children 4-12 years old with a molecular diagnosis of AS and a Clinical Global Impression (CGI)-severity score ≥3 to either daily administration of weight-based gaboxadol or matching placebo for 12 weeks. The primary endpoint was the CGI-Improvement-AS (CGI-I-AS) score at week 12.
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
J Neurodev Disord
July 2023
Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility and utility of in-clinic and at-home measures of key AS symptoms.
View Article and Find Full Text PDFPurpose: The primary goal of this analysis is to describe the health-related quality of life (HRQoL), medical history, and medication use among adolescents and adults individuals with Angelman syndrome (AS).
Methods: The analysis uses baseline data collected during the STARS study, a double-blind placebo controlled trial of gaboxadol (OV101) in adolescents and adults with AS. The HRQoL was estimated using EuroQoL 5-Dimension 5-Level (EQ-5D) health questionnaire proxy 1 version, which was completed by the caregivers.
Article Synopsis
- * The previously believed prevalence gap of ASD between males and females may be smaller than thought, which could contribute to delays in diagnosing women.
- * Identifying ASD in women, even when they don't exhibit standard symptoms, is crucial for proper treatment and understanding their social challenges and mental health issues like ADHD and depression.
With improved healthcare, the Down syndrome (DS) population is both growing and aging rapidly. However, with longevity comes a very high risk of Alzheimer's disease (AD). The LIFE-DSR study (NCT04149197) is a longitudinal natural history study recruiting 270 adults with DS over the age of 25.
View Article and Find Full Text PDFObjective: To evaluate safety and tolerability and exploratory efficacy end points for gaboxadol (OV101) compared with placebo in individuals with Angelman syndrome (AS).
Methods: Gaboxadol is a highly selective orthosteric agonist that activates δ-subunit-containing extrasynaptic γ-aminobutyric acid type A (GABA) receptors. In a multicenter, double-blind, placebo-controlled, parallel-group trial, adolescent and adult individuals with a molecular diagnosis of AS were randomized (1:1:1) to 1 of 3 dosing regimens for a duration of 12 weeks: placebo morning dose and gaboxadol 15 mg evening dose (qd), gaboxadol 10 mg morning dose and 15 mg evening dose (bid), or placebo morning and evening dose.
Screening school-age children for developmental language disorder in primary care.
Int J Speech Lang Pathol
April 2020
Article Synopsis
- - The study tested a new screening tool for developmental language disorder (DLD) in kids aged 6-8 during routine pediatric visits, using parent questionnaires and children's sentence repetition tasks.
- - Results showed that the tool can be easily implemented by non-specialists in about 2 minutes, and combining both the parent and child assessments improved its diagnostic accuracy.
- - Despite showing promise and good internal consistency, further validation in larger and more varied populations is needed before widespread use in primary care settings.
Article Synopsis
- Despite many clinical trials aimed at improving cognition in individuals with Down syndrome, there has been limited success in finding effective treatments.
- The review discusses the transition from mouse model studies to human clinical trials and highlights the need for better strategies in drug discovery for Down syndrome.
- Future research should focus on starting pharmaceutical interventions earlier, creating suitable outcome measures, and enhancing collaboration among stakeholders to tackle previous study limitations and find effective cognitive interventions.