Miglustat for Batten Disease

Overseen By Mary Beth Kiser

Age: Any Age

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: Beyond Batten Disease Foundation

Must not be taking: Flupirtine, Brineura

Disqualifiers: Medical condition, Abnormal lab values, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Breakthrough Therapy This drug has been fast-tracked for approval by the FDA given its high promise

Approved in 4 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: Unknown

Duration: 104 weeks

6 Participants Needed

Trial Summary

Will I have to stop taking my current medications?

The trial requires that you do not use any therapy intended to modify the course of neuronal ceroid lipofuscinosis disease, such as flupirtine or cerliponase alfa. Other medications are not specifically mentioned, so it's best to discuss with the trial team.

Is miglustat safe for human use?

Miglustat, also known as Zavesca, has been used as an oral treatment for type 1 Gaucher disease and Niemann-Pick disease type C. It has received regulatory approval and has been studied for its safety and tolerability in humans, indicating it is generally safe for use in these conditions. ^{1 2 3 4 5}

How is the drug miglustat unique for treating Batten disease?

Miglustat is unique because it is an oral drug that works by reducing the production of certain substances that accumulate in cells, which is different from enzyme replacement therapies that are typically used for similar conditions. It is already used for other diseases like Gaucher and Niemann-Pick type C, where it helps manage symptoms by targeting the underlying cause of the disease. ^{1 2 4 6 7}

What is the purpose of this trial?

This trial is testing the safety and effectiveness of a medication called miglustat, which is taken by mouth. It aims to help people aged 17 and older who have CLN3 disease. Miglustat works by reducing the buildup of harmful substances in the body. Miglustat has been used effectively for treating Gaucher's disease and Niemann-Pick disease type C, showing potential in reducing neurological symptoms and being well-tolerated.

Eligibility Criteria

This trial is for individuals aged 17 or older with genetically confirmed CLN3 disease, a form of Batten Disease. Participants must be able to perform study tasks and visit the clinic as needed. They should agree to use effective contraception during the trial and for a month after it ends.

Inclusion Criteria

Individuals have provided informed consents (TCH and NIH) by subject or parent/legal guardian/legally authorized representative (as appropriate).

Individuals have provided informed consents (TCH and NIH) by subject or parent/legal guardian/legally authorized representative (as appropriate)

I am using or willing to use effective birth control during and for 30 days after the trial.

Exclusion Criteria

Individuals have a medical condition that in the opinion of the PI would interfere with the safety assessments or increase the subject's risk of AEs

I have not used treatments like flupirtine or Brineura for neuronal ceroid lipofuscinosis.

Have, in the opinion of the PI, a clinically significant abnormality in their clinical laboratory values (hematology, chemistry, or urinalysis) at screening that would preclude their participation in the study

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive oral miglustat at the maximum tolerable dose for CLN3 disease

104 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Treatment Details

Interventions

• Miglustat

Trial Overview The study tests Miglustat's safety, how it's processed in the body (pharmacokinetics), and effectiveness in treating CLN3 disease at doses from 100 mg once daily up to 200 mg three times daily over two years across two centers.

Participant Groups

Group I: Oral miglustat Experimental Treatment 1 Intervention

The proposed dosing regimen is daily oral miglustat (MTD, up to 200 mg TID)

Miglustat is already approved in European Union, United States, Canada, Japan for the following indications:

Approved in European Union as Zavesca for:

• Type I Gaucher disease
• Niemann-Pick disease type C
• Pompe disease (in combination with cipaglucosidase alfa)

Approved in United States as Zavesca for:

• Type I Gaucher disease

Approved in Canada as Zavesca for:

• Type I Gaucher disease
• Niemann-Pick disease type C

Approved in Japan as Zavesca for:

• Type I Gaucher disease
• Niemann-Pick disease type C

Who Is Running the Clinical Trial?

Beyond Batten Disease Foundation

Lead Sponsor

Trials

2

Recruited

20,000+

Theranexus

Industry Sponsor

Trials

5

Recruited

310+

Findings from Research

Miglustat, an oral medication developed for type 1 Gaucher disease, works by inhibiting glucosylceramide glucosyltransferase, which is crucial for managing this genetic disorder.

Approved in the EU in November 2002 and launched in the UK in March 2003, miglustat is also being explored for treating other glycolipid storage disorders, indicating its potential broader therapeutic applications.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Miglustat. Oxford GlycoSciences/Actelion. Lachmann, RH.[2016]

References

1. United States pubmed.ncbi.nlm.nih.gov

Airway delivery of low-dose miglustat normalizes nasal potential difference in F508del cystic fibrosis mice. [2014]

2. New Zealand pubmed.ncbi.nlm.nih.gov

Stability of refrigerated miglustat after preparation in InOrpha(®) flavored suspending excipient for compounding of oral solutions and suspensions. [2019]

3. England pubmed.ncbi.nlm.nih.gov

Miglustat. Oxford GlycoSciences/Actelion. [2016]

4. United States pubmed.ncbi.nlm.nih.gov

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. [2019]

5. United States pubmed.ncbi.nlm.nih.gov

An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. [2014]

6. New Zealand pubmed.ncbi.nlm.nih.gov

Review of miglustat for clinical management in Gaucher disease type 1. [2021]

7. England pubmed.ncbi.nlm.nih.gov

Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme. [2014]