An observational study in GM1 Gangliosidosis, Sandhoff Disease and Tay-Sachs Disease, sponsored by Azafaros B.V.. Completed at 13 sites in 6 countries. Open to participants aged 2 Years to 20 Years. Per ClinicalTrials.gov, last updated 2025-09-29.
Sponsored by Azafaros B.V. · Observational
The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).
The study is a prospective longitudinal, multicentric decentralized trial which will be performed in children diagnosed with late infantile or juvenile onset of neurological disease of either GM1 or GM2 Gangliosidoses (Tay-Sachs or Sandhoff disease). The study anticipates to include a total of approximately 35 patients. A large set of neurological functions will be evaluated by rating scales used by physicians and questionnaires answered by parents. Digital tools will be used to support the study procedures with virtual visits.
22 studies on the registry are indexed under Gangliosidosis, GM1; 8 are open to participants now.
This study's enrollment of 31 is below the median of 46 across 10 observational studies indexed under Gangliosidosis, GM1.
Browse Gangliosidosis, GM1 studies →Azafaros B.V. is the lead sponsor of 8 studies on the registry; 4 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Individuals with diagnosis of GM1 Gangliosidosis Tay-Sachs disease, or Sandhoff disease, or late infantile or juvenile onset of neurological disease
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. The study anticipates to include a total of approximately 35 patients.
Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA)
Score between 0 (better) and 8 (worse) points
Time frame: 0-4 years
Change in the Speech 7-point item score of SARA
Score between 0 (better) and 6 (worse) points
Time frame: 0-4 years
Change in scores of SARA items Stance (7-point), Sitting (5-point), Finger chase (5-point), Nose-finger test (5-point), Fast alternating hand movement (5-point), Heel-shin slide (5-point) and overall score.
Stance score between 0 (better) and 6 (worse) points Sitting score between 0 (better) and 4 (worse) points Finger chase test score between 0 (better) and 4 (worse) points Nose-finger test score between 0 (better) and 4 (worse) points Fast alternating hand movements test score between 0 (better) and 4 (worse) points Heel-shin slide score between 0 (better) and 4 (worse) points
Time frame: 0-4 years
Change in the total score of the Motor Function Measure-32 (MFM-32), and each of the 3 domains
The scoring of each item uses a 4-point Likert scale - score between 0 (worse) and 3 (better)
Time frame: 0-4 years
Change of Timed Up & Go
Time a patient takes to rise from a chair, walk 3 meters, turn around 180°, walk back to the chair, and sit down while turning 180°
Time frame: 0-4 years
Change in swallowing score
Assessment of patient swallowing ability - score between 0 (better) and 5 (worse)
Time frame: 0-4 years
Change in the overall composite score of the Vineland Adaptive Behavioral Scale (VABS)
Rated on 0 (never performed),1, 2 (habitually performed) scale
Time frame: 0-4 years
Change in BSFC-s score for each of the 10 items and overall score
Rated on a 4-point scale with the values "strongly disagree", "disagree", "agree", and "strongly agree"
Time frame: 0-4 years
Collection of seizures events, choking episodes, respiratory tract infections
Gathering data about presence/absence and frequency of seizures, choking episodes, respiratory tract infections
Time frame: 0-4 years
Plan to share: No
No publications or documents are linked to this record.
Ran from Feb 2022 to primary completion in Sep 2025, 42 months.
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This study is completed, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
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Azafaros B.V.