GM2 GangliosidosisPhase 2PRISMANCT07399704

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

A Phase 2 study testing AZ-3102 in people with GM2 Gangliosidosis and Niemann-Pick Type C Disease, run by Azafaros B.V. at 3 sites in Brazil.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record

Search all trials

Trial summary

Who is it for?: Ages 12 years and older
Conditions the study is for: GM2 Gangliosidosis, Niemann-Pick Type C Disease
What is being tested?: AZ-3102
Type of treatment: Pill or oral medicine
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 21 participants
Where: 3 sitesBrazil
Study dates: 4 Feb 2026to 30 Jun 2027
Phase: Phase 2

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 12 years and older
All sexes
No healthy volunteers
Child, Adult, Older adult

Who may be able to join

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

Show all 10Show fewer

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.

Who cannot join

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.

Trial locations and contacts

3 sites in 1 country.

Brazil3 sites

Associação Hospitalar de Prot à Infância Dr. Raul Carneiro
Água Verde, Curitiba, 80250-060
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, 90035-903
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira
Rio de Janeiro, 22250

Other trials in Brazil

About this study

Official 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

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).

Read the 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.

Conditions: GM2 Gangliosidosis, Niemann-Pick Type C Disease
Being tested: AZ-3102
Keywords: Nizubaglustat
Medical subject headings: Gangliosidoses, GM2, Niemann-Pick Disease, Type C

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

AZ-3102Drug
Daily oral intake of AZ-3102 dispersible tablets

Study groups in NCT07399704
Study group	Role	What they receive
All patients	Experimental	Arms (both cohorts 1 and 2): Nizubaglustat (AZ-3102) Receives: Drug: AZ-3102

What is being measured

The primary outcome is the main question the study is designed to answer.

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
Measured: 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.
Measured: Through study completion, an average of 4 years
Change from baseline in seizures
Seizure duration (minutes) as per the seizure diary.
Measured: Through study completion, an average of 4 years
Change from baseline in seizures
Seizure frequency (number) as per seizure diary.
Measured: Through study completion, an average of 4 years
Maximum observed plasma concentration (Cmax)
Measured: Baseline , Month 1 (Cohort 2 only) and Month 6
Time to Cmax (Tmax)
Measured: Baseline, Month 1 (Cohort 2 only) and Month 6
Concentration at trough (Ctrough)
Measured: 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
Measured: 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
Measured: Baseline, Month 1 (Cohort 2 only) and Month 6
Change from Baseline in the concentrations of Neurofilament light chain (NfL)
Measured: Through study completion, an average of 4 years
For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Monosialoganglioside GM2 (GM2)
Measured: Through study completion, an average of 4 years
For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Lyso-monosialoganglioside GM2
Measured: 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)
Measured: Through study completion, an average of 4 years

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

4 Feb 202630 Jun 2027

First posted10 Feb 2026
Study start4 Feb 2026
Primary completion30 Jun 2027 (estimated)
Study completion30 Jun 2027 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Other trials for GM2 GangliosidosisStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Phase 2
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Enrolment: 21 participants (estimated)

IDs, dates and publications

ClinicalTrials.gov ID: NCT07399704
Sponsor's protocol ID: AZA-001-5A2-02
Acronym: PRISMA
Status last verified: Oct 2026
First submitted: 17 Dec 2025
Last updated: 21 Oct 2026
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Not yet recruitingPhase 2/3
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
Niemann-Pick Disease Type C, GM2 Gangliosidosis
RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Niemann-Pick Type C Disease, GM1 Gangliosidosis
Active, not recruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
Gangliosidoses, GM2, Gangliosidosis, GM1
RecruitingObservational study
A Natural History Study of the Gangliosidoses
Tay-Sachs Disease, Sandhoff Disease

All GM2 Gangliosidosis trials