GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

Sponsor

Azafaros A.G. (Industry)

Overall Status

Recruiting

CT.gov ID

NCT05109793

Collaborator

(none)

Enrollment

Locations

Anticipated Duration (Months)

6.8

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The study aims to characterize prospectively longitudinal progression of neurological domains in GM1 and GM2 Gangliosidosis patients with high-quality standards (GCP compliant).

Condition or Disease	Intervention/Treatment	Phase
GM1 Gangliosidosis Sandhoff Disease Tay-Sachs Disease

Detailed Description

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 plans to enroll at least 75 patients worldwide. 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 and also a passive monitoring approach with a medical device.

Study Design

Study Type:

Observational

Anticipated Enrollment :

75 participants

Observational Model:

Other

Time Perspective:

Prospective

Official Title:

Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living With Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis

Actual Study Start Date :

Feb 22, 2022

Anticipated Primary Completion Date :

Feb 22, 2026

Anticipated Study Completion Date :

Feb 22, 2026

Arms and Interventions

Arm	Intervention/Treatment
Cohort Late infantile or juvenile onset for GM1 or GM2 Gangliosidosis. This study will enrol a minimum of 75 patients in total, including at least 25 patients with GM1 Gangliosidosis and 25 patients with GM2 Gangliosidosis

Outcome Measures

Primary Outcome Measures

Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA) [0-4 years]
Score between 0 (better) and 8 (worse) points
Change in the Speech 7-point item score of SARA [0-4 years]
Score between 0 (better) and 6 (worse) points

Other Outcome Measures

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. [0-4 years]
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
Change in the total score of the Motor Function Measure-32 (MFM-32), and each of the 3 domains [0-4 years]
The scoring of each item uses a 4-point Likert scale - score between 0 (worse) and 3 (better)
Change of Timed Up & Go [0-4 years]
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°
Change in swallowing score [0-4 years]
Assessment of patient swallowing ability - score between 0 (better) and 5 (worse)
Change in the overall composite score of the Vineland Adaptive Behavioral Scale (VABS) [0-4 years]
Rated on 0 (never performed),1, 2 (habitually performed) scale
Change in BSFC-s score for each of the 10 items and overall score [0-4 years]
Rated on a 4-point scale with the values "strongly disagree", "disagree", "agree", and "strongly agree"
Collection of seizures events, choking episodes, respiratory tract infections [0-4 years]
Gathering data about presence/absence and frequency of seizures, choking episodes, respiratory tract infections

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years to 20 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Genetically confirmed GM1 Gangliosidosis or genetically confirmed Tay-Sachs or Sandhoff disease
Onset of neurological symptoms on or after the patient's first birthday
Achieved 12-month developmental milestones at normal developmental time points as per Principal Investigator's judgement
Abnormal gait and/or speech disturbance

Exclusion Criteria:

Patients who have received (within 6 months before screening), are currently receiving or are planned to receive (within the following 6 months) gene therapy, stem cell transplantation, experimental drugs, or any drug, which, in the Investigator´s opinion, may (have) interfere(d) with disease progression

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Mayo Clinic Rochester	Rochester	Minnesota	United States	55905
2	Hospital Pequeno Principe	Curitiba		Brazil
3	Hospital de Clinicas de Porto Alegre	Porto Alegre		Brazil
4	Hopital d'Enfants CHU Timone	Marseille		France
5	Armand-Trousseau Children's Hospital - CHU Paris Est	Paris		France
6	Universtitäsklinikum Giessen und Marburg	Gießen		Germany
7	LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik	Munich		Germany
8	Universita' di Catania	Catania		Italy
9	University Hospital Friuli Centrale	Udine		Italy
10	Birmingham Children's Hospital NHS Foundation Trust	Birmingham		United Kingdom
11	Great Ormond Street Hospital NHSFT	London		United Kingdom