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.
Trial summary
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). Read more about this study
- 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
- Are there results?
- Not yet: the study is under way
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
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 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.
- 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)
Sponsor and investigators
- Lead sponsor
- Azafaros B.V.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
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
Study at a glance
From the registry record, last updated by the sponsor on 21 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT07399704
- Acronym / sponsor ID
- PRISMA / AZA-001-5A2-02
- Conditions
- GM2 Gangliosidosis, Niemann-Pick Type C Disease
- Keywords
- Nizubaglustat
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 21 participants (estimated)
- Lead sponsor
- Azafaros B.V.Industry (pharma, biotech, devices)
- Study start
- 4 Feb 2026 (actual)
- Primary completion
- 30 Jun 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 10 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All patients | Experimental | Drug: AZ-3102Arms (both cohorts 1 and 2): Nizubaglustat (AZ-3102) |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (10 listed)
- Cohort 1 (NPC and GM2 patients):
- OR
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AZ-3102Daily oral intake of AZ-3102 dispersible tablets | Drug | All patients |
Primary outcome
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
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.
Change from baseline in seizures
Time frame: Through study completion, an average of 4 years
Seizure duration (minutes) as per the seizure diary.
Change from baseline in seizures
Time frame: Through study completion, an average of 4 years
Seizure frequency (number) as per seizure diary.
Maximum observed plasma concentration (Cmax)
Time frame: Baseline , Month 1 (Cohort 2 only) and Month 6
Time to Cmax (Tmax)
Time frame: Baseline, Month 1 (Cohort 2 only) and Month 6
Concentration at trough (Ctrough)
Time frame: 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
5 secondary outcomes
Change from Baseline in the concentrations of Glucosylceramide (GlcCer) C16:0; C18:0
Time frame: 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
For GM2 gangliosidosis patients: Change from Baseline in the concentrations of Monosialoganglioside GM2 (GM2)
Time frame: 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
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
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.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 21 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from baseline in treatment-emergent adverse events (TEAEs) (time frame: Through study completion, an average of 4 years). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 21 Oct 2026.