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SLC6A1-Related Neurodevelopmental Disorder (SLC6A1-NDD) Clinical Trial Readiness Study
Overview
- SLC6A1-NDD is a rare genetic disorder linked to autism spectrum disorder, epilepsy, and developmental delay.
- Understanding the impact on patients and families is crucial for future clinical trials.
Quality-of-Life (QoL) Measures
- QoL measures capture the overall disease experience of patients.
- This study presents QoL findings from the SLC6A1-NDD clinical trial readiness study and Simons Searchlight SLC6A1-NDD registry.
Findings
- QoL data from participants with SLC6A1-NDD showed the mean scores for QI Disability, QOLCE-55, and PedsQL-FIM.
- Longitudinal QoL scores for a subset of participants demonstrated a reduction in the Family Relationship domain of PedsQL-FIM.
Conclusions
- Findings suggest that certain scores could be clinically significant and may need further validation.
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