Clinical trial NCT05109793: GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)
Official title: Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living with Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidosis
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: GM1 Gangliosidosis
Sandhoff Disease
Tay-Sachs Disease
Keywords: GM1 Gangliosidosis
GM2 Gangliosidosis
Natural History Study
Lysosomal Storage Disorders
Nervous System Diseases
Tay-Sachs disease
Sandhoff disease
Genetic Diseases, Inborn
Hexosaminidase A and B deficiency
β-galactosidase deficiency
Lead sponsor: Azafaros A.G.
Sponsor class: INDUSTRY
First posted: 2021-11-05
Enrollment: 31
Sex: ALL
Minimum age (years): 2
Maximum age (years): 20
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with diagnosis of GM1 Gangliosidosis Tay-Sachs disease, or Sandhoff disease, or late infantile or juvenile onset of neurological disease

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).

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 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.

Eligibility criteria: 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

Primary outcomes:
measure: Change in the Gait 9-point item score of the Scale for Assessment and Rating of Ataxia (SARA)
timeFrame: 0-4 years
measure: Change in the Speech 7-point item score of SARA
timeFrame: 0-4 years
Secondary outcomes:
Other outcomes:
measure: 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.
timeFrame: 0-4 years
measure: Change in the total score of the Motor Function Measure-32 (MFM-32), and each of the 3 domains
timeFrame: 0-4 years
measure: Change of Timed Up & Go
timeFrame: 0-4 years
measure: Change in swallowing score
timeFrame: 0-4 years
measure: Change in the overall composite score of the Vineland Adaptive Behavioral Scale (VABS)
timeFrame: 0-4 years
measure: Change in BSFC-s score for each of the 10 items and overall score
timeFrame: 0-4 years
measure: Collection of seizures events, choking episodes, respiratory tract infections
timeFrame: 0-4 years
Locations:
city: Oakland
country: United States
facility: UCSF Benioff Children's Hospital
state: California
city: Rochester
country: United States
facility: Mayo Clinic Rochester
state: Minnesota
city: Curitiba
country: Brazil
facility: Hospital Pequeno Principe
city: Porto Alegre
country: Brazil
facility: Hospital de Clinicas de Porto Alegre
city: Marseille
country: France
facility: Hopital d'Enfants CHU Timone
city: Paris
country: France
facility: Armand-Trousseau Children's Hospital - CHU Paris Est
city: Toulouse
country: France
facility: Hôpital des Enfants - CHU Toulouse Purpan
city: Gießen
country: Germany
facility: Universtitäsklinikum Giessen und Marburg
city: Munich
country: Germany
facility: LMU - Klinikum der Universitaet Muenchen - Neurologische Klinik und Poliklinik
city: Catania
country: Italy
facility: Universita' di Catania
city: Milan
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta
city: Udine
country: Italy
facility: University Hospital Friuli Centrale
city: London
country: United Kingdom
facility: Great Ormond Street Hospital NHSFT
Study officials:
References: