A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease

NCT07399704 | Recruiting Phase 2

• 1 other identifier: AZA-001-5A2-02
• Study Type: interventional
• Target: 21
• Locations: 1 country
• Sites: 3

Brief Summary

This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study (Cohort 1). In addition, the study aims to assess safety, clinical, and biochemical impact of transitioning NPC disease patients to Nizubaglustat after prior treatment with stable, full-dose Miglustat (Cohort 2).

Conditions

GM2 Gangliosidosis; Niemann-Pick Type C Disease

Keywords

Nizubaglustat

Outcome Measures

Primary Outcomes (8)

• Change from baseline in treatment-emergent adverse events (TEAEs)

  Incidence and severity of all Adverse Events related to study drug treatment, study discontinuation or death

  Through study completion, an average of 4 years

• Change from baseline in electrocardiogram (ECG)

  ECG read out Normal, Abnormal, Not Clinically Significant, Abnormal, Clinically Significant and Not Done.

  Through study completion, an average of 4 years

• Change from baseline in seizures

  Seizure duration (minutes) as per the seizure diary.

  Through study completion, an average of 4 years

• Change from baseline in seizures

  Seizure frequency (number) as per seizure diary.

  Through study completion, an average of 4 years

• Maximum observed plasma concentration (Cmax)

  Baseline , Month 1 (Cohort 2 only) and Month 6

• Time to Cmax (Tmax)

  Baseline, Month 1 (Cohort 2 only) and Month 6

• Concentration at trough (Ctrough)

  Baseline, Month 1 (Cohort 2 only) and Month 6

• Area under the plasma concentration-time curve from the time of dosing (zero) to 24 hours post-dose

  Baseline, Month 1 (Cohort 2 only) and Month 6

Secondary Outcomes (5)

• Change from Baseline in the concentrations of Glucosylceramide (GlcCer) C16:0; C18:0

  Baseline, Month 1 (Cohort 2 only) and Month 6

• Change from Baseline in the concentrations of Neurofilament light chain (NfL)

  Through study completion, an average of 4 years

• For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Monosialoganglioside GM2 (GM2)

  Through study completion, an average of 4 years

• For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Lyso-monosialoganglioside GM2

  Through study completion, an average of 4 years

• For NPC disease patients: Change from Baseline in the concentrations of N-palmitoyl-O-phosphocholine-serine (PPCS)

  Through study completion, an average of 4 years

Study Arms (1)

All patients

EXPERIMENTAL

Arms (both cohorts 1 and 2): Nizubaglustat (AZ-3102)

Drug: AZ-3102

Interventions

AZ-3102 DRUG

Daily oral intake of AZ-3102 dispersible tablets

All patients

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Cohort 1 (NPC and GM2 patients):
• Have been randomized into Phase 2 Study AZA-001-5A2-01.
• Cohort 2 (NPC patients):
• Be male or female aged ≥12 years
• Have a genetically-confirmed diagnosis of NPC disease
• Have received full-dose Miglustat treatment for at least 12 months and experienced disease stabilization or worsening with treatment over the 2 previous clinic visits. Patients experiencing clinical improvement with Miglustat over the preceding 3 months should not be considered for this study.
• Wish to change treatment to Nizubaglustat for their NPC disease.
• Participants from Phase 2 Study AZA-001-5A2-01 (RAINBOW) who transitioned to Miglustat may be eligible for Cohort 2 if they meet all other criteria.
• Participation is supported and deemed beneficial by the Principal Investigator. Be willing and able to be evaluated for all protocol assessments. The participant, parent, and/or legal guardian can read, understand, and sign the informed consent form. Where appropriate, assent will also be sought for participants who have not reached the age of majority.

You may not qualify if:

• A positive serum pregnancy test (only tested for women of childbearing potential).
• Female planning to breastfeed during the study.
• Any medical event/condition that prevents participation in the study based on the judgment of the Principal Investigator.
• Participation in another interventional or non-interventional study or early access program.

Sponsors & Collaborators

• Azafaros A.G.: lead

Study Sites (3)

Associação Hospitalar de Prot à Infância Dr. Raul Carneiro

Água Verde, Curitiba, 80250-060, Brazil

RECRUITING

Hospital de Clinicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, 90035-903, Brazil

RECRUITING

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira

Rio de Janeiro, 22250, Brazil

NOT YET RECRUITING

MeSH Terms

Conditions

Gangliosidoses, GM2; Niemann-Pick Disease, Type C

Condition Hierarchy (Ancestors)

Gangliosidoses; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Niemann-Pick Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Hemic and Lymphatic Diseases

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 17, 2025
• First Posted: February 10, 2026
• Study Start: February 4, 2026
• Primary Completion (Estimated): April 15, 2030
• Study Completion (Estimated): August 7, 2030
• Last Updated: March 19, 2026

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

BR (3)