Eladocagene Exuparvovec for AADC Deficiency

Recruiting at 7 trial locations

Overseen By Patient Advocacy

Age: < 18

Sex: Any

Trial Phase: Phase 2

Sponsor: PTC Therapeutics

Must be taking: Dopamine agonists, Monoamine oxidase inhibitors

Disqualifiers: Significant medical conditions, Pyridoxine 5'-phosphate oxidase deficiency, Tetrahydrobiopterin deficiency, others

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

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: Unknown

13 Participants Needed

Trial Summary

What is the purpose of this trial?

This study will have a trial phase, extension phase, and a long-term extension phase. The primary objectives of the trial phase are to assess the pharmacodynamics (PD) of eladocagene exuparvovec treatment by evaluation of homovanillic acid (HVA) levels and to assess the safety of the SmartFlow® magnetic resonance (MR) Compatible Ventricular Cannula for administering eladocagene exuparvovec to pediatric participants with aromatic L-amino acid decarboxylase (AADC) deficiency. The extension phase is designed to capture additional clinical information for eladocagene exuparvovec through study evaluations, changes in motor development, AADC-specific symptoms, and other PD measures. The long-term extension phase is designed to capture long-term safety and efficacy data from participants treated with eladocagene exuparvovec.

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

The trial requires that participants stay on a stable dosage of their current medications related to AADC deficiency for at least 3 months before starting the trial.

What data supports the effectiveness of the treatment Eladocagene Exuparvovec for AADC deficiency?

Research shows that Eladocagene Exuparvovec, a gene therapy, led to rapid and lasting improvements in movement and cognitive function in patients with AADC deficiency. Patients experienced increased dopamine production, better mood, and improved quality of life, with benefits sustained for over five years. ^{1 2 3 4 5}

Eligibility Criteria

This trial is for pediatric patients with AADC deficiency who can't walk independently, have a developed cranium for surgery, and are on stable medication. They must test negative for COVID-19 and not be pregnant or breastfeeding. Participants need normal blood tests unless deemed okay by the investigator, and parents must consent to study requirements.

Inclusion Criteria

I cannot walk on my own, even with help from devices.

I tested negative for COVID-19 within the last 72 hours before gene therapy.

My child has a confirmed genetic AADC deficiency with typical symptoms and low enzyme levels.

Exclusion Criteria

Contraindication for imaging studies (computed tomography [CT] scan, PET, or magnetic resonance imaging [MRI]), including sedation limitations or metal that would interfere with a brain MRI

I have a deficiency in pyridoxine 5'-phosphate oxidase or BH4.

I am not pregnant or breastfeeding.

Timeline

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Trial Phase

Participants receive eladocagene exuparvovec treatment and safety of the SmartFlow MR-Compatible Ventricular Cannula is assessed

8 weeks

Single operative session

Extension Phase

Capture additional clinical information for eladocagene exuparvovec through study evaluations, changes in motor development, AADC-specific symptoms, and other PD measures

Not specified

Long-term Extension Phase

Capture long-term safety and efficacy data from participants treated with eladocagene exuparvovec

Long-term

Treatment Details

Interventions

• Eladocagene Exuparvovec

Trial Overview The trial studies Eladocagene Exuparvovec administered via SmartFlow® MR Compatible Ventricular Cannula in children with AADC deficiency. It aims to evaluate the drug's effects on HVA levels during different phases: initial treatment, extended monitoring of clinical changes, and long-term safety/effectiveness.

Participant Groups

Group I: Eladocagene Exuparvovec Experimental Treatment 1 Intervention

Participants will receive eladocagene exuparvovec intraoperatively at 1.8×10\^11 vector genomes (vg) via SmartFlow® MR Compatible Ventricular Cannula in a single operative session. Participants will receive standard of care for their AADC deficiency during the study.

Who Is Running the Clinical Trial?

PTC Therapeutics

Lead Sponsor

Trials

75

Recruited

6,300+

Dr. Matthew B. Klein

PTC Therapeutics

Chief Executive Officer since 2023

BA from the University of Pennsylvania, MD from Yale University School of Medicine, MS in Epidemiology from the University of Washington School of Public Health

Dr. Stuart W. Peltz

PTC Therapeutics

Chief Medical Officer since 2023

MD from Harvard Medical School

References

1. England pubmed.ncbi.nlm.nih.gov

Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial. [2019]

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

A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan. [2020]

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

Eladocagene Exuparvovec: First Approval. [2022]

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

Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up. [2023]

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

Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency. [2023]