New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Child Neurology in November 2025 titled "Exploration Into Lived Experiences of Multiple Sulfatase Deficiency–Affected Individuals and Their Families."
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Working with Caregivers to Capture Lived Experiences of Children with Multiple Sulfatase Deficiency.
This summary is based on a paper published in the Journal of Child Neurology in November 2025.
Rare diseases deeply affect children and families, but their experiences are only incompletely understood—especially for extremely rare conditions like multiple sulfatase deficiency (MSD), a leukodystrophy.
In this study, researchers worked directly with caregivers to capture lived experiences of children with MSD. Nineteen caregivers shared information about their child’s daily skills, emotional health, and overall quality of life, as well as their own well-being. The team used several established questionnaires to measure these areas and compared the results to data from metachromatic leukodystrophy (MLD), a related rare disorder.
Results showed that although children with MSD face significant challenges with daily activities, caregivers reported that emotional well-being was a strength, underscoring the incredible resiliency of the rare disease community. When the team used caregiver-centered tools, they captured a richer picture of what matters most to families, such as coordination of care and emotional support. Caregivers themselves experienced major emotional and practical strain, often feeling grief and isolation, similar to those caring for children with MLD.
Authors note that these insights show why including patient and caregiver perspectives in research is critical. Their input helps identify meaningful outcomes, improves the design of clinical trials, and ensures that future treatments focus on what truly matters to families.
Read the paper here.
Learn more about GLIA-CTN.
Transcript:
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN), a research group of the Rare Diseases Clinical Research Network.
Working with Caregivers to Capture Lived Experiences of Children with Multiple Sulfatase Deficiency.
This summary is based on a paper published in the Journal of Child Neurology in November 2025.
Rare diseases deeply affect children and families, but their experiences are only incompletely understood—especially for extremely rare conditions like multiple sulfatase deficiency (MSD), a leukodystrophy.
In this study, researchers worked directly with caregivers to capture lived experiences of children with MSD. Nineteen caregivers shared information about their child’s daily skills, emotional health, and overall quality of life, as well as their own well-being. The team used several established questionnaires to measure these areas and compared the results to data from metachromatic leukodystrophy (MLD), a related rare disorder.
Results showed that although children with MSD face significant challenges with daily activities, caregivers reported that emotional well-being was a strength, underscoring the incredible resiliency of the rare disease community. When the team used caregiver-centered tools, they captured a richer picture of what matters most to families, such as coordination of care and emotional support. Caregivers themselves experienced major emotional and practical strain, often feeling grief and isolation, similar to those caring for children with MLD.
Authors note that these insights show why including patient and caregiver perspectives in research is critical. Their input helps identify meaningful outcomes, improves the design of clinical trials, and ensures that future treatments focus on what truly matters to families.
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