Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
NCT04041102 · View on ClinicalTrials.gov ↗
Study Summary
Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures. This study aims to build a natural history data set through collection of a number of clinical, imaging, and laboratory assessments that may be specific predictors of GM1 disease progression and clinical outcome. Having a GM1 natural history data set can inform potential efficacy endpoints and biomarkers for future clinical trials. This natural history study will follow up to 40 subjects diagnosed with GM1 gangliosidosis (up to 20 infantile (Type 1) and 20 late infantile/juvenile (Type 2)) for up to 3 years. Visits will be conducted every 6 months, during which several procedures will be performed and the data recorded in order to learn about the natural course of the disease, including changes in clinical and neurological assessments and electrophysiologic, imaging and biofluid biomarkers. Study procedures include: physical \& neurological exam, blood \& urine sample collection, questionnaires \& assessments of development, seizure diary, ECHO, ECG, x-ray and ultrasound (if MRI not performed), EEG and genetic testing (if not already done). The following procedures are subject to local/institutional policies and the medical discretion of the Study Physician: MRI, lumbar puncture (spinal tap) and General anesthesia/sedation (for MRI and LP).
Conditions Studied
Study Locations (6)
Other
- Hospital de Clínicas de Porto Alegre — Porto Alegre
- Gazi University — Ankara
- UCL Great Ormond Street Institute of Child Health — London
California
- UCSF Benioff Children's Hospital Oakland — Oakland
Pennsylvania
- Children's Hospital of Philadelphia — Philadelphia
Quebec
- Montreal Children's Hospital Research Institute - McGill University — Montreal
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 31 participants |
| Start Date | 2020-06-12 |
| Est. Completion | 2024-05-01 |
Interested in This Trial?
Always speak with your doctor before enrolling in a clinical trial.
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04041102
The ClinicalTrials.gov registry entry for NCT04041102 describes a study currently listed as completed. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 31 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is University of Pennsylvania, which has 1,457 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with GM1 Gangliosidosis appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT04041102 reports 6 study locations spanning 4 distinct geographic areas — top geographies include Other, California, Pennsylvania. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT04041102 about?
NCT04041102 is a clinical study titled "Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients". Owing to the rarity, severity, speed of progression and fatal prognosis of infantile and juvenile GM1, there is a limited understanding of overall disease progression and meaningful outcome measures. This study aims to build a natural history data set through collection of a number of clinical, imag...
What is the current status of trial NCT04041102?
This trial is currently completed. The enrollment target is 31 participants. The study started on 2020-06-12. Estimated completion is 2024-05-01.
What conditions does trial NCT04041102 study?
This clinical trial studies the following conditions: GM1 Gangliosidosis. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT04041102?
This trial is sponsored by University of Pennsylvania, which has 1,457 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT04041102 being conducted?
This trial has 6 study locations across California, Pennsylvania, Quebec. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
Learn More About Clinical Trials
How Clinical Trials Work
Understand phases 1-4, trial design, randomization, and the informed consent process.
Patient Rights in Clinical Trials
Your rights as a participant: consent, withdrawal, privacy, and who to contact.
Finding the Right Clinical Trial
A practical guide to searching trials, understanding eligibility, and evaluating options.
All Guides
Browse our complete library of clinical trial educational resources.
Read our methodology — how this data is sourced, computed, and verified.