Gene Therapy for Batten Disease

Age: < 18

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: Alcyone Therapeutics, Inc

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

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to evaluate a new gene therapy treatment, AT-GTX-502, for children with CLN3 Batten disease, a rare genetic disorder affecting the nervous system. Researchers are testing two different doses to assess their safety and effectiveness when delivered directly into the spinal cord. Children diagnosed with CLN3 Batten disease who can walk at least 50 feet independently might be eligible to participate. The trial seeks to find a potential treatment that can improve the quality of life for those affected by this challenging condition. As a Phase 1/Phase 2 trial, this research focuses on understanding how the treatment works in people and measuring its effectiveness in an initial, smaller group, offering participants a chance to contribute to groundbreaking advancements.

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.

Is there any evidence suggesting that this trial's treatments are likely to be safe?

Research has shown that AT-GTX-502, a treatment for CLN3 Batten disease, appears safe. Studies have found that children who received this gene therapy tolerated it well. About a year after treatment, no major safety issues were reported, indicating the treatment is generally well-tolerated.

In earlier studies, children who received a single dose of AT-GTX-502 did not experience serious side effects. Two different doses are being tested: a low dose and a high dose, both administered through an injection into the spinal cord area. The aim is to determine which dose is safest and most effective.

Overall, the safety results from these studies are promising. While more information is needed, the data so far suggests that AT-GTX-502 could be a safe option for treating CLN3 Batten disease. ^{1 2 3 4 5}

Why are researchers excited about this trial's treatments?

Researchers are excited about AT-GTX-502 for Batten Disease because it represents a new frontier in treatment through gene therapy. Unlike current treatments that primarily focus on managing symptoms, AT-GTX-502 aims to address the root cause by delivering a functional copy of the faulty gene directly into the central nervous system using intrathecal injection. This approach has the potential to slow or even halt disease progression, offering hope for more effective and long-term relief.

What evidence suggests that this gene therapy might be an effective treatment for Batten disease?

Research has shown that CLN-301, the gene therapy being tested for CLN3 Batten disease, yields promising results. In earlier studies, most patients who received CLN-301 maintained their movement and thinking abilities for over five years. This is significant because, without treatment, these abilities usually decline quickly in Batten disease. In this trial, participants will receive either a low or high dose of CLN-301. Early results from the first human study also showed positive outcomes, suggesting the treatment might be effective. This therapy aims to address the genetic cause of Batten disease, offering hope to slow or stop the progression of symptoms. ^{1 2 4 5 6}

Who Is on the Research Team?

Kathrin C Meyer, PhD

Principal Investigator

Alcyone Therapeutics

Are You a Good Fit for This Trial?

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 for a Trial Participant

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)

What Are the Treatments Tested in This Trial?

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.

How Is the Trial Designed?

Group I: Cohort 2: CLN-301 High-Dose Experimental Treatment 1 Intervention

No more than 10 mL of 1.2 x 1014 vg of CLN-301 administered via intrathecal injection

Group II: Cohort 1: CLN-301 Low-Dose Experimental Treatment 1 Intervention

No more than 5 mL of 6 x 1013 vg CLN-301 administered via intrathecal injection

Who Is Running the Clinical Trial?

Alcyone Therapeutics, Inc

Lead Sponsor

Trials

3

Recruited

110+

Amicus Therapeutics

Lead Sponsor

Trials

55

Recruited

2,700+

Citations

1. ir.amicusrx.com ir.amicusrx.com/news-releases/news-release-details/amicus-therapeutics-announces-positive-initial-clinical-data

Investors Amicus Therapeutics (Nasdaq: FOLD) today announced positive initial results from its first in-human study of its CLN3 Batten disease gene therapy program, AT- ...

2. clinicaltrials.gov clinicaltrials.gov/study/NCT03770572

Gene Therapy for Children With CLN3 Batten Disease The primary outcome for this clinical study is to evaluate safety. The co-primary objective is to determine the efficacy of CLN-301 as measured by United Batten ...

3. bdsrafoundation.org bdsrafoundation.org/batten-disease-research-updates-april-2025/

Batten Disease Research Updates with Dr. Ineka Whiteman The majority of patients treated with CLN-301 and followed for over five years to date have shown maintenance of skills in motor and cognitive ...

4. alcyonetx.com alcyonetx.com/companynews/alcyone-therapeutics-announces-strategic-financing-to-advance-an-expanded-pipeline-of-pediatric-focused-precision-therapeutics-for-severe-neurological-diseases/

Alcyone Therapeutics Announces Strategic Financing to ... Typical outcomes for patients with CLN3 Batten disease include rapid vision loss, cognitive and motor decline, and behavioral issues. The ...

5. ctv.veeva.com ctv.veeva.com/study/gene-therapy-for-children-with-cln3-batten-disease

Gene Therapy for Children With CLN3 Batten Disease This study consists of a one-time injection of CLN-301 with follow-up visits on Day 7, 14, 21, and 30, followed by every 3 months through 1 year ...

6. battendiseasenews.com battendiseasenews.com/news/amicus-at-gtx-502-gene-therapy-cln3-safety-possible-efficacy-phase-1-2-trial/

CLN3 Gene Therapy Showing Safety, Possible Efficacy in ... Juvenile Batten children give a single treatment with AT-GTX-502 are showing safety and possible disease stabilization about a year later.