GM1 GangliosidosisNCT04310163
Interviews and Video Capture in Patients With GM1 Gangliosidosis
An observational study of GM1 Gangliosidosis, run by LYSOGENE at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- GM1 Gangliosidosis
- What is being tested?
- Natural history
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Apr 2020to 5 May 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Study population will consist of children or adolescents
Who may be able to join
- 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
Who cannot join
- GM1 gangliosidosis patient that the caregiver cares for is being treated with any experimental medication in a clinical trial setting.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1)
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.
Read the 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.
- Conditions
- GM1 Gangliosidosis
- Being tested
- Natural history
- Keywords
- GM1 gangliosidosis, Landing disease, Lysosomal Storage Disease
- Medical subject headings
- Gangliosidosis, GM1, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Natural historyOther
Parent interview and video capture
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: up to 24 months
Secondary outcomes (2)
Unscheduled Video Capture
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.
Measured: up to 24 months
Caregiver Interviews
Casimir study staff will conduct video interviews with the caregivers at baseline and follow-up timepoints .
Measured: up to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2020
- Study start20 Apr 2020
- Primary completion5 May 2023
- Study completion5 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GM1 GangliosidosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- LYSOGENE
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Casimir, LLC, Cure GM1 Foundation
- Responsible party
- Sponsor
- Investigators
- Mindy Leffler, MEd, Principal investigator, Casimir Trials
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04310163
- Sponsor's protocol ID
- CAS-LYS003-01
- Status last verified
- Jun 2023
- First submitted
- 12 Mar 2020
- Last updated
- 8 Jun 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study Using Interview and Video Capture of Infantile and Juvenile GM1 Gangliosidosis (GM1)
- ClinicalTrials.gov ID
- NCT04310163
- Acronym / sponsor ID
- CAS-LYS003-01
- Conditions
- GM1 Gangliosidosis
- Keywords
- GM1 gangliosidosis, Landing disease, Lysosomal Storage Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 25 participants (actual)
- Lead sponsor
- LYSOGENEIndustry (pharma, biotech, devices)
- Collaborators
- Casimir, LLC, Cure GM1 Foundation
- Study start
- 20 Apr 2020 (actual)
- Primary completion
- 5 May 2023 (actual)
- Study completion
- 5 May 2023 (actual)
- First posted
- 17 Mar 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Study population will consist of children or adolescents
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (1 listed)
- GM1 gangliosidosis patient that the caregiver cares for is being treated with any experimental medication in a clinical trial setting.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Natural historyParent interview and video capture | Other | – |
Primary outcome
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.
2 secondary outcomes
Unscheduled Video Capture
Time frame: up to 24 months
Caregiver Interviews
Time frame: up to 24 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jun 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Mindy Leffler, MEd principal investigator
Casimir Trials
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of GM1 Gangliosidosis, run by LYSOGENE at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Scheduled Video Capture (time frame: up to 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jun 2023.