NCT04310163

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Apr 2020

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 12, 2020

Completed
5 days until next milestone

First Posted

Study publicly available on registry

March 17, 2020

Completed
1 month until next milestone

Study Start

First participant enrolled

April 20, 2020

Completed
3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 5, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 5, 2023

Completed
Last Updated

June 8, 2023

Status Verified

June 1, 2023

Enrollment Period

3 years

First QC Date

March 12, 2020

Last Update Submit

June 7, 2023

Conditions

GM1 Gangliosidosis

Keywords

GM1 gangliosidosisLanding diseaseLysosomal Storage Disease

Outcome Measures

Primary Outcomes (1)

  • Scheduled Video Capture

    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.

    up to 24 months

Secondary Outcomes (2)

  • Unscheduled Video Capture

    up to 24 months

  • Caregiver Interviews

    up to 24 months

Interventions

Natural historyOTHER

Parent interview and video capture

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Study population will consist of children or adolescents

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Casimir Trials

Plymouth, Massachusetts, 02360, United States

Location

MeSH Terms

Conditions

Gangliosidosis, GM1Lysosomal Storage Diseases

Condition Hierarchy (Ancestors)

GangliosidosesSphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Mindy Leffler, MEd

    Casimir Trials

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 12, 2020

First Posted

March 17, 2020

Study Start

April 20, 2020

Primary Completion

May 5, 2023

Study Completion

May 5, 2023

Last Updated

June 8, 2023

Record last verified: 2023-06

Locations

US(1)