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NCT Number: NCT07399704

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

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).

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Key information

Conditions

GM2 Gangliosidosis Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gangliosidoses Gangliosidoses, GM2 Genetic Diseases, Inborn Hemic and Lymphatic Diseases Histiocytosis Histiocytosis, Non-Langerhans-Cell Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lymphatic Diseases Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Niemann-Pick Disease, Type C Niemann-Pick Diseases Niemann-Pick Type C Disease Nutritional and Metabolic Diseases Sphingolipidoses

Age range

12 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Associação Hospitalar de Prot à Infância Dr. Raul Carneiro, Água Verde, Curitiba, Brazil

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

AZ-3102

Drug

Daily oral intake of AZ-3102 dispersible tablets

Primary outcomes

  1. 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

  2. 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.

  3. Change from baseline in seizures

    Time frame: Through study completion, an average of 4 years

    Seizure duration (minutes) as per the seizure diary.

  4. Change from baseline in seizures

    Time frame: Through study completion, an average of 4 years

    Seizure frequency (number) as per seizure diary.

  5. Maximum observed plasma concentration (Cmax)

    Time frame: Baseline , Month 1 (Cohort 2 only) and Month 6

  6. Time to Cmax (Tmax)

    Time frame: Baseline, Month 1 (Cohort 2 only) and Month 6

  7. Concentration at trough (Ctrough)

    Time frame: Baseline, Month 1 (Cohort 2 only) and Month 6

  8. 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

Secondary outcomes

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

    Time frame: Baseline, Month 1 (Cohort 2 only) and Month 6

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

    Time frame: Through study completion, an average of 4 years

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

    Time frame: Through study completion, an average of 4 years

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

    Time frame: Through study completion, an average of 4 years

  5. 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

Sponsors and collaborators

Lead sponsor

Azafaros B.V.

Industry

Registry information

Official study title

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

Acronym: PRISMA

Important dates

Study start
2026
Primary completion
2030
Study completion
2030
First posted
Feb 10, 2026
Registry last updated
Jun 18, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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