Nizubaglustat (AZ-3102) treatment for people with GM2 gangliosidosis or Niemann‑Pick type C disease

Open-label Study to Evaluate the Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease, With or Without Previous Administration of Miglustat

This open-label study will try daily Nizubaglustat (AZ-3102) in people with GM2 gangliosidosis or Niemann‑Pick type C to collect long‑term safety, drug level, biomarker, and clinical response data, including for patients switching from miglustat.

Quick facts

• Phase: Phase 2
• Study type: Interventional
• Enrollment: 21 (estimated)
• Ages: 12 Years and up
• Sex: All
• Sponsor: Azafaros A.G. (Industry-sponsored)
• Locations: 3 sites (Água Verde, Curitiba and 2 other locations)
• Trial ID: NCT07399704 on ClinicalTrials.gov

What this trial studies

This multicenter, open‑label Phase 2 extension enrolls two cohorts: prior RAINBOW participants who wish to continue Nizubaglustat and NPC patients aged ≥12 who have been on full‑dose miglustat for ≥12 months and want to switch. Participants receive daily Nizubaglustat (AZ-3102) and undergo scheduled safety, tolerability, pharmacokinetic, pharmacodynamic, biomarker, and clinical assessments. The study is designed to gather long‑term data on adverse events, drug exposure, biochemical markers, and clinical function to characterize durability and direction of effect. Sites for the study are in Brazil and participants must be willing and able to attend required visits and procedures.

Who should consider this trial

Good fit: Ideal candidates are people with genetically confirmed late‑infantile or juvenile GM2 gangliosidosis or NPC who either continued from the Phase 2 RAINBOW study or are age ≥12 with at least 12 months of full‑dose miglustat and stable or worsening disease who wish to switch to Nizubaglustat.

Not a fit: Patients who are clinically improving on miglustat, who lack genetic confirmation of disease, are under age 12, or cannot comply with study visits and assessments are unlikely to receive benefit from participating.

Why it matters

Potential benefit: If successful, Nizubaglustat could offer an oral treatment option that helps stabilize or slow neurological decline in patients with GM2 or NPC disease.

How similar studies have performed: Earlier Phase 2 work, including the RAINBOW study, provided preliminary safety and biomarker data for Nizubaglustat but long‑term clinical benefit has not yet been demonstrated.

Eligibility criteria

Inclusion Criteria:

* Cohort 1 (NPC and GM2 patients):

  * Have been randomized into Phase 2 Study AZA-001-5A2-01.

OR

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.

Exclusion Criteria:

* 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.

Where this trial is running

Água Verde, Curitiba and 2 other locations

• Associação Hospitalar de Prot à Infância Dr. Raul Carneiro — Água Verde, Curitiba, Brazil (Recruiting)
• Hospital de Clinicas de Porto Alegre — Porto Alegre, Rio Grande do Sul, Brazil (Recruiting)
• Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira — Rio de Janeiro, Brazil (Recruiting)

Conditions GM2 Gangliosidosis; Niemann-Pick Type C Disease; Nizubaglustat