Interviews and Video Capture in Patients With GM1 Gangliosidosis

• ClinicalTrials.gov Identifier: NCT04310163
• Recruitment Status: Active, not recruiting
• First Posted: March 17, 2020
• Last Update Posted: October 17, 2022
• Sponsor: LYSOGENE
• Collaborators: Casimir, LLC; Cure GM1 Foundation
• Information provided by (Responsible Party): LYSOGENE

Study Description

Brief Summary:

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.

Condition or disease	Intervention/treatment
GM1 Gangliosidosis	Other: Natural history

Detailed Description:

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.

Study Design

• Study Type: Observational
• Actual Enrollment: 25 participants
• Observational Model: Cohort
• Time Perspective: Other
• Official Title: Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1)
• Actual Study Start Date: April 20, 2020
• Estimated Primary Completion Date: May 2023
• Estimated Study Completion Date: May 2023

Groups and Cohorts

Intervention Details:

• Other: Natural history
  Parent interview and video capture

Outcome Measures

Primary Outcome Measures :

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 Outcome Measures :

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 .

Eligibility Criteria

• Ages Eligible for Study: Child, Adult, Older Adult
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Study population will consist of children or adolescents

Criteria

Inclusion Criteria:

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

1. Early infantile GM1 gangliosidosis
2. Late infantile GM1 gangliosidosis
3. Juvenile GM1 gangliosidosis who can walk with assistance or possesses past videos of when child could walk with assistance
4. 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.

Contacts and Locations

Locations

United States, Massachusetts

Casimir Trials

Plymouth, Massachusetts, United States, 02360

Sponsors and Collaborators

LYSOGENE

Casimir, LLC

Cure GM1 Foundation

Investigators

• Principal Investigator: Mindy Leffler, MEd; Casimir Trials

More Information

• Responsible Party: LYSOGENE
• ClinicalTrials.gov Identifier: NCT04310163
• Other Study ID Numbers: CAS-LYS003-01
• First Posted: March 17, 2020
• Last Update Posted: October 17, 2022
• Last Verified: October 2022

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by LYSOGENE:

GM1 gangliosidosis; Landing disease; Lysosomal Storage Disease

Additional relevant MeSH terms:

Gangliosidoses; Gangliosidosis, GM1; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Lipid Metabolism Disorders