GM2 GangliosidosisPhase 2RAINBOWNCT05758922
Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
A Phase 2 study testing AZ-3102 (Dose 1) and AZ-3102 (Dose 2) in people with GM2 Gangliosidosis and Niemann-Pick Disease, Type C, run by Azafaros B.V. at 3 sites in Brazil.
Trial summary
This phase 2 is a randomized, double-blind, placebo controlled, 12 weeks study with daily oral administration of AZ-3102 aiming to evaluate the safety and pharmacokinetic (PK) profile in GM2 Gangliosidosis and Niemann-Pick type C disease (NP-C) patients. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- GM2 Gangliosidosis, Niemann-Pick Disease, Type C
- What is being tested?
- AZ-3102 (Dose 1) and AZ-3102 (Dose 2)
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 13 participants
- Where
- 3 sitesBrazil
- Study dates
- 24 Apr 2023to 5 May 2026
- Phase
- Phase 2
- Are there results?
- None posted in the registry
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
- Male and female patients aged above 12 years old at informed consent signature.
- GM2 patients : Genetically and biochemically confirmed diagnosis of Tay-Sachs or Sandhoff disease.
- NP-C patients : Genetically confirmed diagnosis of NP-C.
- NP-C patients : Miglustat-naïve patients unwilling or unable to take miglustat, OR, patients who have discontinued miglustat because of confirmed safety/tolerability issues. Miglustat must have been discontinued at least 1 month prior to Baseline visit.
- Total SARA score ≥ 1 at Baseline.
- A male participant with a female partner of childbearing potential is eligible if he agrees to follow the contraceptive guidance.
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- If a female participant is a WOCBP and is having a male partner, she must agree to follow the contraceptive guidance.
- Willing and able to complete protocol assessments.
- Parent and/or legal guardian is able to read, understand, and sign the informed consent. Where appropriate, assent will also be sought for patients who have not reached the age of majority or who are not able to sign the consent form.
Who cannot join
- Any abnormal conditions at baseline visit which, in the opinion of the PI; could interfere with study assessments (e.g., severe infection).
- History of medical conditions other than GM2 gangliosidosis/NP-C that, in the opinion of the PI; would confound scientific rigor or interpretation of results.
- Presence of another inherited neurologic disease.
- The dose of anti-epileptic treatment(s) was not stable and/or a new anti-epileptic treatment (drug or procedure) was prescribed during the last month before baseline.
- Total bilirubin >2 x ULN (isolated bilirubin >2 x ULN is acceptable if bilirubin is fractionated and direct bilirubin is <35%).
- Platelet count < 100 x 10^9/L.
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- Presence of moderate or severe renal impairment.
- Prior participation in a clinical study with an investigational drug within 3 months prior to Baseline.
- Patient with a positive serum pregnancy test (tested only for women of childbearing potential) at baseline.
- Breast feeding ongoing at baseline or planned during the study.
- ECG with an average of triplicate QTcF interval > 440 msec.
- Received treatment with N-Acetyl-Leucine, gene therapy, stem cell transplantation, or with any other azasugars (iminosugars) compound with similar mechanism of action within 3 months before baseline (except for miglustat for which it is 1 month).
- Any known allergy to azasugars or any excipients.
- Evidence of suicidal ideation with intent (Type 4-5) on the Columbia Suicide Severity Rating Scale (C-SSRS) at Screening. Only in patients judged by the PI cognitively capable to understand the concept of suicide.
Trial locations and contacts
3 sites in 1 country.
Brazil3 sites
Hospital Pequeno Principe
Curitiba
Hospital de Clinicas de Porto Alegre
Porto Alegre
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira
Rio de Janeiro
About this study
Official title: Randomized, Double Blind, Placebo Controlled, Multicenter, 12 Weeks Phase 2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This phase 2 is a randomized, double-blind, placebo controlled, 12 weeks study with daily oral administration of AZ-3102 aiming to evaluate the safety and pharmacokinetic (PK) profile in GM2 Gangliosidosis and Niemann-Pick type C disease (NP-C) patients. After approval by the country health authorities, a double-blind extension period was proposed to the patients who complete the 12-week study.
- Conditions
- GM2 Gangliosidosis, Niemann-Pick Disease, Type C
- Being tested
- AZ-3102 (Dose 1), Placebo, AZ-3102 (Dose 2)
- 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-3102 (Dose 1)Drug
Pharmaceutical form: capsule
Route of administration: oral
PlaceboDrug
Pharmaceutical form: capsule
Route of administration: oral
AZ-3102 (Dose 2)Drug
Pharmaceutical form: capsule
Route of administration: oral
| Study group | Role | What they receive |
|---|---|---|
| Placebo | Placebo comparator | Participant will receive placebo once daily during the course of the study (12 weeks). Receives: Drug: Placebo |
| AZ-3102 (Dose 1) | Experimental | Participant will receive AZ-3102 (Dose 1) once daily during the course of the study (12 weeks) and the study extension (if applicable). Receives: Drug: AZ-3102 (Dose 1) |
| AZ-3102 (Dose 2) | Experimental | Participant will receive AZ-3102 (Dose 2) once daily during the course of the study (12 weeks) and the study extension (if applicable). Receives: Drug: AZ-3102 (Dose 2) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety/tolerability: Incidence and severity of treatment emergent adverse events
Measured: Through study completion, up to Week 12
Assessment of pharmacokinetic (PK) parameters in plasma: Cmax
Measured: Through study completion, up to Week 12
Assessment of PK parameters in plasma: Tmax
Measured: Through study completion, up to Week 12
Assessment of PK parameters in plasma: AUC0-24h
Measured: Concentration versus time curve calculated from time 0 to 24 hours (AUC0-24h)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Mar 2023
- Study start24 Apr 2023
- Primary completion19 Apr 2024
- Study completion5 May 2026
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
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- Azafaros B.V.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05758922
- Sponsor's protocol ID
- AZA-001-5A2-01
- Acronym
- RAINBOW
- Status last verified
- May 2026
- First submitted
- 15 Feb 2023
- Last updated
- 14 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Randomized, Double Blind, Placebo Controlled, Multicenter, 12 Weeks Phase 2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
- ClinicalTrials.gov ID
- NCT05758922
- Acronym / sponsor ID
- RAINBOW / AZA-001-5A2-01
- Conditions
- GM2 Gangliosidosis, Niemann-Pick Disease, Type C
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- Azafaros B.V.Industry (pharma, biotech, devices)
- Study start
- 24 Apr 2023 (actual)
- Primary completion
- 19 Apr 2024 (actual)
- Study completion
- 5 May 2026 (actual)
- First posted
- 8 Mar 2023 (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 phase 2 is a randomized, double-blind, placebo controlled, 12 weeks study with daily oral administration of AZ-3102 aiming to evaluate the safety and pharmacokinetic (PK) profile in GM2 Gangliosidosis and Niemann-Pick type C disease (NP-C) patients. After approval by the country health authorities, a double-blind extension period was proposed to the patients who complete the 12-week study.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Placebo | Placebo comparator | Drug: PlaceboParticipant will receive placebo once daily during the course of the study (12 weeks). |
| AZ-3102 (Dose 1) | Experimental | Drug: AZ-3102 (Dose 1)Participant will receive AZ-3102 (Dose 1) once daily during the course of the study (12 weeks) and the study extension (if applicable). |
| AZ-3102 (Dose 2) | Experimental | Drug: AZ-3102 (Dose 2)Participant will receive AZ-3102 (Dose 2) once daily during the course of the study (12 weeks) and the study extension (if applicable). |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (9 listed)
- Male and female patients aged above 12 years old at informed consent signature.
- GM2 patients : Genetically and biochemically confirmed diagnosis of Tay-Sachs or Sandhoff disease.
- NP-C patients : Genetically confirmed diagnosis of NP-C.
- NP-C patients : Miglustat-naïve patients unwilling or unable to take miglustat, OR, patients who have discontinued miglustat because of confirmed safety/tolerability issues. Miglustat must have been discontinued at least 1 month prior to Baseline visit.
- Total SARA score ≥ 1 at Baseline.
Key exclusion criteria (14 listed)
- Any abnormal conditions at baseline visit which, in the opinion of the PI; could interfere with study assessments (e.g., severe infection).
- History of medical conditions other than GM2 gangliosidosis/NP-C that, in the opinion of the PI; would confound scientific rigor or interpretation of results.
- Presence of another inherited neurologic disease.
- The dose of anti-epileptic treatment(s) was not stable and/or a new anti-epileptic treatment (drug or procedure) was prescribed during the last month before baseline.
- Total bilirubin >2 x ULN (isolated bilirubin >2 x ULN is acceptable if bilirubin is fractionated and direct bilirubin is <35%).
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-3102 (Dose 1)Pharmaceutical form: capsule Route of administration: oral | Drug | AZ-3102 (Dose 1) |
| PlaceboPharmaceutical form: capsule Route of administration: oral | Drug | Placebo |
| AZ-3102 (Dose 2)Pharmaceutical form: capsule Route of administration: oral | Drug | AZ-3102 (Dose 2) |
Primary outcome
Safety/tolerability: Incidence and severity of treatment emergent adverse events
Time frame: Through study completion, up to Week 12
Assessment of pharmacokinetic (PK) parameters in plasma: Cmax
Time frame: Through study completion, up to Week 12
Assessment of PK parameters in plasma: Tmax
Time frame: Through study completion, up to Week 12
Assessment of PK parameters in plasma: AUC0-24h
Time frame: Concentration versus time curve calculated from time 0 to 24 hours (AUC0-24h)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 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 (Dose 1) and AZ-3102 (Dose 2) in people with GM2 Gangliosidosis and Niemann-Pick Disease, Type C, 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 9 inclusion and 14 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: finished, as of the sponsor's last update on 14 May 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. Some participants in this study may receive a placebo. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Safety/tolerability: Incidence and severity of treatment emergent adverse events (time frame: Through study completion, up to Week 12). The study lists 4 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 14 May 2026.