Actively Recruiting

Phase 2
Age: 12Years +
All Genders
ID07399704

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 Miglustat Treatment

Led by Azafaros A.G. · Updated on 2026-05-07

21

Participants Needed

3

Research Sites

16 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are evaluating the long-term safety, tolerability, pharmacokinetics, biomarkers, and clinical effects of daily Nizubaglustat (AZ-3102) in patients with GM2 gangliosidosis or Niemann-Pick Type C (NPC) disease. This open-label phase 2 study includes two groups: patients continuing from a previous phase 2 study (RAINBOW), and NPC patients transitioning from stable, full-dose Miglustat treatment after at least 12 months. The study aims to understand safety and disease impact with this new treatment approach. Participants in both cohorts receive daily oral Nizubaglustat tablets. Cohort 1 includes patients who previously participated in the RAINBOW study and continue treatment, while Cohort 2 consists of NPC patients aged 12 or older who have received Miglustat but experienced stable or worsening disease and now switch to Nizubaglustat. The study does not involve a placebo group and is open-label. During the average 4-year study period, participants undergo regular assessments including monitoring of adverse events, electrocardiograms, seizure frequency, and blood tests for drug levels and biomarkers related to disease activity. Researchers evaluate changes in specific substances in the blood linked to GM2 gangliosidosis and NPC disease. Participants are expected to complete all treatment and evaluation visits as scheduled to help assess the long-term effects and safety of Nizubaglustat.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 12Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Cohort 1: Previously randomized in Phase 2 Study AZA-001-5A2-01 (RAINBOW).
  • Cohort 2: Male or female aged 12 years or older.
  • Cohort 2: Genetically confirmed Niemann-Pick Type C disease.
  • Cohort 2: Received full-dose Miglustat for at least 12 months with stable or worsening disease over the last two clinic visits.
  • Desire to transition from Miglustat to Nizubaglustat treatment.
  • Ability and willingness to complete all study assessments.
  • Participant, parent, or legal guardian can read, understand, and sign informed consent; assent obtained if under age of majority.
Not Eligible

You will not qualify if you...

  • Positive pregnancy test for women of childbearing potential.
  • Female planning to breastfeed during the study.
  • Any medical condition or event that prevents study participation as judged by the Principal Investigator.
  • Participation in another interventional or non-interventional study or early access program.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Treatment

Duration - Approximately 4 years

Participants receive daily oral intake of Nizubaglustat (AZ-3102) and are monitored for safety, tolerability, pharmacokinetics, and efficacy.

Regular visits for assessments including plasma concentration measurements at baseline, Month 1 (Cohort 2 only), and Month 6

Trial Site Locations

Total: 3 locations

1

Associação Hospitalar de Prot à Infância Dr. Raul Carneiro

Água Verde, Curitiba, Brazil, 80250-060

Actively Recruiting

2

Hospital de Clinicas de Porto Alegre

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

Actively Recruiting

3

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

Rio de Janeiro, Brazil, 22250

Actively Recruiting

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How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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