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

May 6, 2026 updated by: Azafaros A.G.

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 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).

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

This is a multicenter, open-label study to assess the safety, tolerability, PK, PD, and efficacy of Nizubaglustat in male or female patients with late-infantile or juvenile onset GM2 gangliosidosis or NPC disease in two cohorts:

  • Cohort 1: Patients who previously took part in Phase 2 Study AZA-001-5A2-01 (RAINBOW) and wish to continue in this open-label study
  • Cohort 2: Approximately 10 patients with NPC disease, aged ≥12 years who received full-dose Miglustat for more than 12 months, have stable or worsening disease over the 2 previous clinic visits, and who wish to stop Miglustat treatment and transition to Nizubaglustat.

Study Type

Interventional

Enrollment (Estimated)

21

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Brazil
      • Rio de Janeiro, Brazil, 22250
        • Recruiting
        • Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira
        • Contact:
        • Principal Investigator:
          • Dafne Horovitz
    • Curitiba
      • Água Verde, Curitiba, Brazil, 80250-060
        • Recruiting
        • Associação Hospitalar de Prot à Infância Dr. Raul Carneiro
        • Contact:
        • Principal Investigator:
          • Daniel Almeida do Valle
    • Rio Grande do Sul
      • Porto Alegre, Rio Grande do Sul, Brazil, 90035-903
        • Recruiting
        • Hospital de Clinicas de Porto Alegre
        • Contact:
        • Principal Investigator:
          • Roberto Giugliani, Prof. Dr.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: All patients
Arms (both cohorts 1 and 2): Nizubaglustat (AZ-3102)
Drug: AZ-3102
Daily oral intake of AZ-3102 dispersible tablets

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change from baseline in treatment-emergent adverse events (TEAEs)
Time Frame: Through study completion, an average of 4 years
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)
Time Frame: Through study completion, an average of 4 years
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
Time Frame: Through study completion, an average of 4 years
Seizure duration (minutes) as per the seizure diary.
Through study completion, an average of 4 years
Change from baseline in seizures
Time Frame: Through study completion, an average of 4 years
Seizure frequency (number) as per seizure diary.
Through study completion, an average of 4 years
Maximum observed plasma concentration (Cmax)
Time Frame: Baseline , Month 1 (Cohort 2 only) and Month 6
Baseline , Month 1 (Cohort 2 only) and Month 6
Time to Cmax (Tmax)
Time Frame: Baseline, Month 1 (Cohort 2 only) and Month 6
Baseline, Month 1 (Cohort 2 only) and Month 6
Concentration at trough (Ctrough)
Time Frame: Baseline, Month 1 (Cohort 2 only) and Month 6
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
Time Frame: Baseline, Month 1 (Cohort 2 only) and Month 6
Baseline, Month 1 (Cohort 2 only) and Month 6

Secondary Outcome Measures

Outcome Measure
Time Frame
Change from Baseline in the concentrations of Glucosylceramide (GlcCer) C16:0; C18:0
Time Frame: Baseline, Month 1 (Cohort 2 only) and Month 6
Baseline, Month 1 (Cohort 2 only) and Month 6
Change from Baseline in the concentrations of Neurofilament light chain (NfL)
Time Frame: Through study completion, an average of 4 years
Through study completion, an average of 4 years
For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Monosialoganglioside GM2 (GM2)
Time Frame: Through study completion, an average of 4 years
Through study completion, an average of 4 years
For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Lyso-monosialoganglioside GM2
Time Frame: Through study completion, an average of 4 years
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)
Time Frame: Through study completion, an average of 4 years
Through study completion, an average of 4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Azafaros A.G.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 4, 2026

Primary Completion (Estimated)

April 15, 2030

Study Completion (Estimated)

August 7, 2030

Study Registration Dates

First Submitted

December 17, 2025

First Submitted That Met QC Criteria

February 3, 2026

First Posted (Actual)

February 10, 2026

Study Record Updates

Last Update Posted (Actual)

May 7, 2026

Last Update Submitted That Met QC Criteria

May 6, 2026

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AZA-001-5A2-02

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on GM2 Gangliosidosis

Clinical Trials on AZ-3102

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Brazil

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe