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Completed

NCT Number: NCT04310163

Interviews and Video Capture in Patients With GM1 Gangliosidosis

GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures. In addition, parents report that clinic-based assessments are not always well-suited to capture all the disease features and other metrics that have an impact on the patient and family. To address the methodological challenges of this small, heterogeneous population, this study will collect patient-specific home-based video data and qualitative interviews with caregivers.

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Key information

Conditions

GM1 Gangliosidosis Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gangliosidoses Gangliosidosis, GM1 Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses

Sex eligibility

All sexes

Study type

Observational

Primary location

Casimir Trials

Plymouth, Massachusetts, 02360, United States

About this study

This is a natural history study, for up to 2 years, during which parents or guardians of a child with GM1 gangliosidosis collect video data of patients doing specific daily life activities at baseline and follow-up timepoints throughout the study (3, 6, 12, 18, and 24 months) and/or submit videos taken in the past through a secure smart phone mobile application. The video assessments focus on several hallmarks of GM1 gangliosidosis progression. Caregivers participate in qualitative interviews to provide context for the videos and discuss any changes they observe during the study. Activity videos will be evaluated by expert clinicians using both Clinical Global Impression of Severity (CGI-S) and Clinical Global Impression of Change (CGI-C) scales. The caregiver interviews and clinician-rated activities will inform the patient-specific disease trajectories for each hallmark. There is no treatment or intervention associated with this study.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Be or have been the parent, legal guardian, or caretaker of a patient with GM1 gangliosidosis with:

  • Early infantile GM1 gangliosidosis
  • Late infantile GM1 gangliosidosis
  • Juvenile GM1 gangliosidosis who can walk with assistance or possesses past videos of when child could walk with assistance
  • Early or late infantile GM1 gangliosidosis who has passed away, but is in possession of videos documenting the onset and evolution of disease hallmarks of GM1 gangliosidosis

Exclusion criteria

GM1 gangliosidosis patient that the caregiver cares for is being treated with any experimental medication in a clinical trial setting.

Treatment and study plan

Natural History

Other

Parent interview and video capture

Primary outcomes

  1. Scheduled Video Capture

    Time frame: up to 24 months

    Caregivers will record GM1 gangliosidosis participants doing specific activities of daily living. A list of standardized activities will be provided at baseline and the caregiver will select the activities that are relevant to the GM1 gangliosidosis participant. The activities include: gross motor skills, fine motor skills, caregiver interaction, communication, self-care and visual tracking.

Secondary outcomes

  1. Unscheduled Video Capture

    Time frame: up to 24 months

    In addition to the scheduled video captures, spontaneously-captured videos may also be submitted by the caregivers at any time. These spontaneous videos should demonstrate any behavior or ability that the caregivers consider to be a meaningful change for the participant.

  2. Caregiver Interviews

    Time frame: up to 24 months

    Casimir study staff will conduct video interviews with the caregivers at baseline and follow-up timepoints .

Sponsors and collaborators

Lead sponsor

LYSOGENE

Industry

Collaborators

  • Casimir, LLC
  • Cure GM1 Foundation

Registry information

Official study title

Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1)

Important dates

Study start
2020
Primary completion
2023
Study completion
2023
First posted
Mar 17, 2020
Registry last updated
Jun 8, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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