A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
An 18-month double-blind, randomized, placebo-controlled, multicenter, Phase 3 study to evaluate the safety and efficacy of oral nizubaglustat (AZ-3102) in late-infantile and juvenile forms of GM1 gangliosidosis or GM2 gangliosidosis
Eligibility
Sex
ALL
Min age
4 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Confirmed GM1 gangliosidosis or Tay-Sachs, Sandhoff, or GM2AB variant
* Male and female participants aged 4 years and older at the time of informed consent
* Onset of neurological symptoms from 1 to 10 years
* Disability level at Baseline: Ataxic disturbances with a total SARA score of ≥3 and ≤30 at Baseline
* Females of childbearing potential who are sexually active willing to follow the contraceptive guidance
* Male participants with a female partner of childbearing potential willing to follow the contraceptive guidance
Exclusion Criteria:
* A history of medical conditions other than GM1 or GM2 gangliosidosis that, in the opinion of the Principal Investigator, would confound scientific rigor or the interpretation of results
* Body weight of \<10 kg
* The presence of another neurologic disease
* The presence of moderate or severe hepatic impairment
* The presence of moderate or severe renal impairment
* Platelet count of \<100x10\^9/L
* The dose of any anti-epileptic treatment(s) was not stable (required a change in dose within the previous 3 months) and/or a new anti-epileptic treatment (drug or procedure) was prescribed in the month before Baseline
* Prior use of an investigational drug within the 3 months before Screening; or prior participation in a clinical study involving gene therapy or stem cell transplantation within 2 years prior to Screening
* A positive serum pregnancy test (for women of childbearing potential)
Primary outcome measure(s)
Change from baseline in total Scale for the Assessment and Rating of Ataxia (SARA) score — Baseline to month 18 Total SARA comprises eight categories with a cumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia)
Change from baseline in functional SARA score — Baseline to month 18 Functional SARA uses an abbreviated scale that scores 0 to 16, with higher scores indicating more severe impairment
Trial sites (26)
Facility
City
Region
Status
UCSF Children's Hospital and Research Center at Oakland
Oakland
California
University of Minnesota Medical School
Minneapolis
Minnesota
Mayo Clinic Children's Center - PIN
Rochester
Minnesota
Children's Medical Center Dallas
Dallas
Texas
Lysosomal Rare Disorders Research and Treatment Center
Fairfax
Virginia
Hospital Universitario Austral
Ciudad Autónoma Buenos Aires
Buenos Aires
Hospital de Niños de La Santisima Trinidad
Córdoba
Córdoba Province
Women's and Children's Hospital
North Adelaide
South Australia
Instituto Fernandes Figueira
Rio de Janeiro
Rio de Janeiro
Hospital de Clinicas de Porto Alegre (HCPA) - PPDS
Porto Alegre
Rio Grande do Sul
M.A.G.I.C. Clinic Ltd. Metabolics and Genetics in Calgary
Calgary
Alberta
AP-HP - Hôpital Armand Trousseau
Paris
France
SphinCS GmbH
Höchheim
Germany
Amrita Institute of Medical Sciences and Research Centre
Ernākulam
Kerala
All India Institute of Medical Sciences (AIIMS) - New Delhi
New Delhi
National Capital Territory of Delhi
JK Lone Hospital
Jaipur
Rajasthan
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan
Italy
ULS de Santo António, EPE - Centro Materno Infantil Norte
Porto
Porto District
ULS de Santa Maria,EPE - Hospital de Santa Maria - PPDS
Lisbon
Portugal
Hospital Universitario Vall d'Hebron - PPDS
Barcelona
Barcelona
Hospital Infantil Universitario Niño Jesus - PIN
Madrid
Madrid
Sahlgrenska universitetssjukhuset Östra
Gothenburg
Västra Götaland County
Inselspital - Universitätsspital Bern
Bern
Canton of Bern
Balcali Hastanesi Saglik Uygulama ve Arastirma Merkezi
Adana
Adana
Gazi Universitesi Saglik Arastirma ve Uygulama Merkezi
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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