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Gene Therapy

Eladocagene Exuparvovec for AADC Deficiency

Phase 2
Waitlist Available
Research Sponsored by PTC Therapeutics
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
Unable to ambulate independently (with or without assistive device)
Pediatric participants must have genetically-confirmed AADC deficiency with typical clinical characteristics and decreased AADC enzyme activity in plasma
Timeline
Screening 3 weeks
Treatment Varies
Follow Up baseline (day 1), weeks 8 and 48
Awards & highlights

Study Summary

This trial will assess the safety of using a SmartFlow cannula to administer eladocagene exuparvovec to children with AADC deficiency. The extension phase will capture additional information on how the drug affects motor development, symptoms, and other measures.

Who is the study for?
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.Check my eligibility
What is being tested?
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.See study design
What are the potential side effects?
While specific side effects aren't listed here, potential risks may include reactions related to brain surgery (using ClearPoint® system), gene therapy administration through the cannula, general anesthesia complications, as well as any unforeseen responses to Eladocagene Exuparvovec.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I cannot walk on my own, even with help from devices.
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My child has a confirmed genetic AADC deficiency with typical symptoms and low enzyme levels.
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My skull is developed enough for ClearPoint system use in surgery.
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I have been on a stable dose of my AADC deficiency medication for 3 months.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~baseline (day 1), weeks 8 and 48
This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline (day 1), weeks 8 and 48 for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.
Primary outcome measures
Change From Baseline in HVA Metabolite Levels at the End of the Trial Phase
Number of Participants With Adverse Events (AEs) Associated With the Surgical Administration of Eladocagene Exuparvovec Using the SmartFlow® MR-Compatible Ventricular Cannula
Secondary outcome measures
Change From Baseline in Neurotransmitter CSF Metabolites 5-hydroxyindoleacetic acid (5-HIAA), and 3-O-methyldopa (3-OMD) at Weeks 8 and 48
Change From Baseline in Neurotransmitter Cerebrospinal Fluid (CSF) Metabolite HVA at Week 48
Change From Baseline in Positron Emission Tomography (PET) Imaging of Putaminal-Specific L-6-[18F] Fluoro-3,4-Dihydroxyphenylalnine (18F-DOPA) PET Uptake at the End of the Trial Phase (Week 8) and the Extension Phase (Week 48)
+7 more

Trial Design

1Treatment groups
Experimental Treatment
Group I: Eladocagene ExuparvovecExperimental Treatment1 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.

Find a Location

Who is running the clinical trial?

PTC TherapeuticsLead Sponsor
74 Previous Clinical Trials
6,217 Total Patients Enrolled

Media Library

Eladocagene Exuparvovec (Gene Therapy) Clinical Trial Eligibility Overview. Trial Name: NCT04903288 — Phase 2
Aromatic L-amino Acid Decarboxylase Deficiency Research Study Groups: Eladocagene Exuparvovec
Aromatic L-amino Acid Decarboxylase Deficiency Clinical Trial 2023: Eladocagene Exuparvovec Highlights & Side Effects. Trial Name: NCT04903288 — Phase 2
Eladocagene Exuparvovec (Gene Therapy) 2023 Treatment Timeline for Medical Study. Trial Name: NCT04903288 — Phase 2

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Has Eladocagene Exuparvovec been sanctioned by the FDA?

"Eladocagene Exuparvovec has been proven to have some safety benefits during Phase 2 trials, so it was rated a 2 on the 1-3 scale. Unfortunately there is no evidence at this stage that demonstrates its efficacy."

Answered by AI

What is the current enrollment count for this research endeavor?

"This clinical trial requires three suitable candidates to take part. Locations such as Boston Children's Hospital in Massachusetts and Duke University Hospital in Texas, are some of the many enrolment sites available."

Answered by AI

Does the eligibility for this experiment encompass adults of 18 years and above?

"As per the prerequisites, participants must be between 1 year old and 17 years of age in order to qualify for this clinical trial."

Answered by AI

How widely distributed is the implementation of this research protocol in America?

"Those interested in participating can find a clinical trial site at Boston Children's Hospital, Duke University Hospital or Texas Children's Hospital. Additionally, there are 6 other locations that are enrolling patients into this study."

Answered by AI

Is it possible for me to join this clinical trial?

"The current medical trial is looking to recruit 3 people that suffer from aadc deficiency between the ages of 1 and 17. To be considered for participation, potential candidates should fulfill certain prerequisites: Females must provide evidence of pregnancy-negativity before commencing study procedures, as well as accept an abstention or twofold barrier form of contraception during the entirety of the investigation after being discharged from hospital (acceptable methods will be determined by each individual site). Furthermore, applicants need to lack independent ambulation ability (with or without assistive devices)."

Answered by AI

Are there any vacancies for enrollees in this clinical experiment?

"Affirmative. According to clinicaltrials.gov, this research trial is actively seeking participants with the initial posting on May 12th 2021 and most recent update being October 23rd 2022. 3 volunteers from 6 distinct locations are needed for successful completion of this experiment."

Answered by AI
Recent research and studies
clinicaltrials.govStudy
A Study of SmartFlow Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants
2021. "A Study of SmartFlow Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT04903288.
~3 spots leftby Apr 2025
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