Gene therapy for adults with adrenomyeloneuropathy

A Phase 1/2 Randomized, Blinded, Dose-escalation Study to Evaluate the Safety and Efficacy of Intrathecal Administration of AAV9-ABCD1 Gene Therapy (SBT101) in Adult Patients With Adrenomyeloneuropathy

This study is testing a new gene therapy called SBT101 to see if it can help adults with adrenomyeloneuropathy feel better and slow down their symptoms over five years.

Quick facts

• Phase: Phase1; Phase2
• Study type: Interventional
• Enrollment: 16 (estimated)
• Ages: 18 Years to 65 Years
• Sex: Male
• Sponsor: SwanBio Therapeutics, Inc. (Industry-sponsored)
• Locations: 2 sites (Worcester, Massachusetts and 1 other locations)
• Trial ID: NCT05394064 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the safety and efficacy of SBT101, a gene therapy administered intrathecally, in adult patients with adrenomyeloneuropathy (AMN). The study is divided into two parts: a blinded 24-month core study to assess the therapy's impact on disease progression and a 3-year unblinded follow-up for long-term safety. Participants will receive either SBT101 or a placebo and will be monitored for safety and efficacy over a total of five years. The trial aims to establish the maximum tolerated dose and gather data on the therapy's effects on AMN symptoms.

Who should consider this trial

Good fit: Ideal candidates are adults aged 18-65 diagnosed with X-linked adrenoleukodystrophy and showing clinical signs of spinal cord involvement.

Not a fit: Patients with a long history of myeloneuropathy symptoms or those with contraindications to the study procedures may not benefit from this trial.

Why it matters

Potential benefit: If successful, this therapy could significantly slow or halt the progression of adrenomyeloneuropathy in affected patients.

How similar studies have performed: While gene therapy for similar conditions is an emerging field, this specific approach is novel and has not been extensively tested in prior studies.

Eligibility criteria

Inclusion Criteria:

1. Diagnosed with X-linked adrenoleukodystrophy (ALD), including proven mutation in the ABCD1 gene through confirmatory genetic testing, and supported by elevated circulating VLCFA levels.
2. Clinical evidence of spinal cord involvement but still able to ambulate independently

Exclusion Criteria:

1. Evidence of or past diagnosis of inflammatory cerebral disease.
2. 15 years or more have elapsed since the initial onset of myeloneuropathy manifestations such as walking or running difficulties, bladder dysfunction, increased muscular tone, spasticity, weakness, balance problems, etc.
3. Contraindications for MRI procedure and/or contrast materials.
4. Contraindication to steroids, sirolimus, tacrolimus, and/or anesthetic medications.
5. Unstable adrenal function (e.g., untreated or inappropriately treated adrenal insufficiency).
6. History of diabetes or abnormal fasting plasma glucose (≥126 mg/dL) or hemoglobin A1C ≥6.5%.
7. Patients who have received a gene therapy.

Where this trial is running

Worcester, Massachusetts and 1 other locations

• University of Massachusetts Chan Medical School — Worcester, Massachusetts, United States (Recruiting)
• Amsterdam UMC — Amsterdam, Netherlands (Not_yet_recruiting)

Study contacts

• Study coordinator: Clinical Trial Recruitment

Conditions AMN; AMN Gene Mutation; X-ALD; Adrenoleukodystrophy; X-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Myeloneuropathy; Spastic paraplegia