Publications by authors named "D G Glaze"
Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.
View Article and Find Full Text PDFBackground: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.
View Article and Find Full Text PDFArticle Synopsis
- Trofinetide was shown to be effective for treating Rett syndrome in a long-term study called LILAC-2, following a shorter study, LAVENDER, confirming its benefits over 32 months.
- The study included 77 female participants aged 5-22, examining safety through adverse events and efficacy using specific rating scales, with diarrhea and COVID-19 being the most commonly reported side effects.
- Caregivers expressed high satisfaction with trofinetide, noting significant improvements in their children's symptoms without any new safety issues arising during the extended treatment.
Article Synopsis
- Trofinetide, approved for treating Rett syndrome, showed continued efficacy and safety in the 40-week LILAC extension study following the initial 12-week LAVENDER trial.
- A total of 154 female participants aged 5-21 received trofinetide, with common side effects including diarrhea and vomiting; diarrhea was the leading cause for treatment withdrawal.
- Symptoms of Rett syndrome improved over the 40-week period, with no significant difference in safety profiles between LILAC and the previous LAVENDER study.
Distribution of hand function by age in individuals with Rett syndrome.
Ann Child Neurol Soc
September 2023
Article Synopsis
- - The study aimed to track changes in hand function skills over time in girls and young women with classic Rett Syndrome (RTT) and examine how these changes relate to genetic variants.
- - Researchers analyzed data from 946 participants between ages 2 and 18, revealing that hand function generally declines over time, with sharper declines noted in individuals with milder genetic variants.
- - The findings suggest that understanding these variations in hand use is crucial for designing effective clinical trials for RTT treatments, highlighting the need to consider specific genetic factors affecting hand function when planning interventions.