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Interviews and Video Capture in Patients With GM1 Gangliosidosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT04310163
Recruitment Status : Active, not recruiting
First Posted : March 17, 2020
Last Update Posted : October 17, 2022
Casimir, LLC
Cure GM1 Foundation
Information provided by (Responsible Party):

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.

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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

Intervention Details:
  • Other: Natural history
    Parent interview and video capture

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 .

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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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

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04310163

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United States, Massachusetts
Casimir Trials
Plymouth, Massachusetts, United States, 02360
Sponsors and Collaborators
Casimir, LLC
Cure GM1 Foundation
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Principal Investigator: Mindy Leffler, MEd Casimir Trials
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Responsible Party: LYSOGENE
ClinicalTrials.gov Identifier: NCT04310163    
Other Study ID Numbers: CAS-LYS003-01
First Posted: March 17, 2020    Key Record Dates
Last Update Posted: October 17, 2022
Last Verified: October 2022

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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:
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Gangliosidosis, GM1
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders