Gene Therapy for Batten Disease

Age: < 18

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: Amicus Therapeutics

Must not be taking: Cannabinoids

Disqualifiers: Other neurologic diseases, Active viral infection, Immunologic disease, Organ transplant, others

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

Compensation: Varies

Number of Visits: 1

Duration: 1 day

7 Participants Needed

Trial Summary

Do I need to stop my current medications for the trial?

The trial does not specify if you need to stop taking your current medications, but it does exclude those using cannabinoids and any by-products. It's best to discuss your specific medications with the trial team.

What data supports the effectiveness of the treatment AT-GTX-502 for Batten Disease?

Research on a similar gene therapy for CLN7 Batten disease in mice showed improvements in brain health, behavior, and survival, suggesting potential benefits for AT-GTX-502. Additionally, gene therapies for other forms of Batten disease have shown promise in slowing disease progression, indicating that AT-GTX-502 might also be effective. ^{1 2 3 4 5}

Is gene therapy for Batten Disease safe in humans?

Gene therapy for Batten Disease has shown an acceptable safety profile in animal studies, including mice and rats, and in a small human trial for a related form of the disease, where expected side effects did not cause long-term harm. ^{1 2 3 4 5}

How does the treatment AT-GTX-502 differ from other treatments for Batten disease?

AT-GTX-502 is a gene therapy that targets the genetic cause of Batten disease, unlike existing treatments that mainly address symptoms. This therapy uses a virus to deliver a healthy copy of the affected gene directly to the brain, aiming to slow or stop disease progression, which is a novel approach compared to enzyme replacement therapies like cerliponase alfa. ^{1 2 3 5 6}

What is the purpose of this trial?

This trial tests AT-GTX-502, a one-time injection into the lower spine, for children with CLN3 Batten disease. The treatment delivers a healthy gene to help correct the disease.

Research Team

Clinical Research

Principal Investigator

Amicus Therapeutics

Eligibility Criteria

This trial is for children aged 3 to under 11 with CLN3 Batten disease, able to walk independently. They must have a specific diagnosis confirmed by an accredited lab and a low physical impairment score. Kids can't join if they've had recent immunosuppression therapy, other neurological issues, active infections, uncontrolled seizures, certain medical procedures or conditions that prevent MRI scans or lumbar punctures.

Inclusion Criteria

Your physical impairment score is less than or equal to 7 on the Unified Parkinson's Disease Rating Scale (UBDRS).

I can walk by myself for at least 50 feet.

I am between 3 and 10 years old.

Exclusion Criteria

Has received any investigational medication within 30 days before the infusion of study drug

I had a major seizure episode within the last 4 weeks.

I have had surgery on my eye or cornea.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

A one-time intrathecal injection of AT-GTX-502 is administered to participants

1 day

1 visit (in-person)

Follow-up

Participants are monitored for safety and efficacy with follow-up visits on Day 7, 14, 21, and 30, then every 3 months through 1 year, and every 6 months through the fifth year

5 years

Multiple visits (in-person)

Treatment Details

Interventions

• AT-GTX-502

Trial Overview The trial tests two doses of AT-GTX-502 gene therapy delivered into the spinal cord region for safety and effectiveness in treating CLN3 Batten disease. It's an early-stage study where all participants receive the treatment but at different dosage levels.

Participant Groups

Group I: Cohort 2: AT-GTX-502 High-Dose Experimental Treatment 1 Intervention

No more than 10 mL of 1.2 x 1014 vg of AT-GTX-502 administered via intrathecal injection

Group II: Cohort 1: AT-GTX-502 Low-Dose Experimental Treatment 1 Intervention

No more than 5 mL of 6 x 1013 vg AT-GTX-502 administered via intrathecal injection

Who Is Running the Clinical Trial?

Amicus Therapeutics

Lead Sponsor

Trials

55

Recruited

2,700+

References

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

CLN7 gene therapy: hope for an ultra-rare condition. [2022]

2. England pubmed.ncbi.nlm.nih.gov

Therapeutic landscape for Batten disease: current treatments and future prospects. [2023]

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

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. [2022]

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

Discovery of a CLN7 model of Batten disease in non-human primates. [2021]

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

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2. [2022]

6. England pubmed.ncbi.nlm.nih.gov

Gait phenotype in Batten disease: A marker of disease progression. [2021]