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

Sandhoff Disease Clinical Trial

— PRONTO  

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05109793
• Other study ID #: AZA-001-5A4-01
• Status: Active, not recruiting
• Start date: February 22, 2022
• Est. completion date: May 30, 2026

Study information

• Verified date: October 2023
• Source: Azafaros A.G.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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 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 and also a passive monitoring approach with a medical device.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 31
• Est. completion date: May 30, 2026
• Est. primary completion date: May 30, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years to 20 Years

Eligibility

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

Related Conditions & MeSH terms

• Gangliosidoses
• Gangliosidoses, GM2
• Gangliosidosis, GM1
• GM1 Gangliosidosis
• Nervous System Diseases
• Sandhoff Disease
• Tay-Sachs Disease

Locations

Country	Name	City	State
Brazil	Hospital Pequeno Principe	Curitiba
Brazil	Hospital de Clinicas de Porto Alegre	Porto Alegre
France	Hopital d'Enfants CHU Timone	Marseille
France	Armand-Trousseau Children's Hospital - CHU Paris Est	Paris
France	Hôpital des Enfants - CHU Toulouse Purpan	Toulouse
Germany	Universtitäsklinikum Giessen und Marburg	Gießen
Germany	LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik	Munich
Italy	Universita' di Catania	Catania
Italy	Fondazione IRCCS Istituto Neurologico Carlo Besta	Milan
Italy	University Hospital Friuli Centrale	Udine
United Kingdom	Great Ormond Street Hospital NHSFT	London
United States	UCSF Benioff Children's Hospital	Oakland	California
United States	Mayo Clinic Rochester	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Azafaros A.G.

Countries where clinical trial is conducted

United States,  Brazil,  France,  Germany,  Italy,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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	0-4 years
Other	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)	0-4 years
Other	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°	0-4 years
Other	Change in swallowing score	Assessment of patient swallowing ability - score between 0 (better) and 5 (worse)	0-4 years
Other	Change in the overall composite score of the Vineland Adaptive Behavioral Scale (VABS)	Rated on 0 (never performed),1, 2 (habitually performed) scale	0-4 years
Other	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"	0-4 years
Other	Collection of seizures events, choking episodes, respiratory tract infections	Gathering data about presence/absence and frequency of seizures, choking episodes, respiratory tract infections	0-4 years
Primary	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	0-4 years
Primary	Change in the Speech 7-point item score of SARA	Score between 0 (better) and 6 (worse) points	0-4 years