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A Study of SmartFlow® Magnetic Resonance (MR) Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Participants

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ClinicalTrials.gov Identifier: NCT04903288
Recruitment Status : Recruiting
First Posted : May 26, 2021
Last Update Posted : December 21, 2022
Information provided by (Responsible Party):
PTC Therapeutics

Brief Summary:
This study will have a trial phase, extension phase, and optional long-term extension phase. The primary objective of the trial phase is to assess the safety of the SmartFlow® 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, including changes in motor development, AADC-specific symptoms, and other pharmacodynamic (PD) measures. The optional long-term extension phase is designed to capture long-term safety and efficacy data from participants treated in the trial phase and the extension phase.

Condition or disease Intervention/treatment Phase
AADC Deficiency Genetic: Eladocagene Exuparvovec Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 3 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: An Open-Label Trial to Address the Safety of the SmartFlow MR-Compatible Ventricular Cannula for Administering Eladocagene Exuparvovec to Pediatric Subjects
Actual Study Start Date : May 12, 2021
Estimated Primary Completion Date : July 15, 2023
Estimated Study Completion Date : July 15, 2023

Arm Intervention/treatment
Experimental: Eladocagene Exuparvovec
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.
Genetic: Eladocagene Exuparvovec
Four 0.08 milliliters (mL) infusions at a dose of 0.45×10^11 vg and a volume of 80 microliters (μl) per site to 4 sites (2 per putamen), for the total dose of 1.8×10^11 vg and a total volume of 320 μl per participant.

Primary Outcome Measures :
  1. Number of Participants With Adverse Events (AEs) Associated With the Surgical Administration of Eladocagene Exuparvovec Using the SmartFlow® MR-Compatible Ventricular Cannula [ Time Frame: Baseline (Day 1) up to Week 8 ]

Secondary Outcome Measures :
  1. 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) [ Time Frame: Baseline (Day 1), Week 8 ]

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 17 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Pediatric participants must have genetically-confirmed AADC deficiency with typical clinical characteristics and decreased AADC enzyme activity in plasma.
  • Cranium sufficiently developed to allow placement of ClearPoint® system for stereotactic surgery.
  • Persistent neurological defects secondary to AADC deficiency despite standard medical therapy (dopamine agonists, monoamine oxidase inhibitor, pyridoxine, or other forms of vitamin B6) in the opinion of the investigator.
  • Unable to ambulate independently (with or without assistive device).
  • Baseline hematology, chemistry, and coagulation values within the normal pediatric laboratory value ranges, unless in the investigator's opinion the out of range values are not clinically significant with respect to the participant's suitability for surgery.
  • Participant must test negative for coronavirus disease of 2019 (COVID-19) a maximum of 72 hours prior to receiving gene therapy.
  • Participant must be on stable dosage for 3 months prior to baseline for all medications related to treatment of AADC deficiency, including dopamine agonists, monoamine oxidase inhibitors, anticholinergic drugs, and vitamin B6.
  • Females of childbearing potential must have a negative pregnancy test at screening and baseline and agree to abstinence or double-barrier form of contraception for the duration of the study following discharge from the hospital (acceptable methods will be determined by the site).
  • Males sexually active with females of childbearing potential must agree to use a barrier method of birth control during the study following discharge from the hospital.
  • Parent(s)/legal guardian(s) of the participant must agree to comply with the requirements of the study, including the need for frequent and prolonged follow up.
  • Parent(s)/legal guardian(s) with custody of the participant must give their consent for the participant to enroll in the study.

Exclusion Criteria:

  • The participant has presence of other significant medical or neurological conditions that would create an unacceptable operative or anesthetic risk.
  • Participants with pyridoxine 5'-phosphate oxidase or tetrahydrobiopterin (BH4) deficiency.
  • 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.
  • Anti-adeno-associated virus, serotype 2 (anti-AAV2) antibody titer higher than 1:1200 or >1 optical density value by enzyme-linked immunosorbent assay.
  • Participants who have received treatment with other experimental therapies within the last 24 weeks prior to planned gene therapy administration, or any treatment ever with a gene therapy.
  • Evidence of a clinically active infection.
  • Females who are pregnant or breast feeding.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04903288

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Contact: Patient Advocacy 1-866-562-4620 medinfo@ptcbio.com

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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Adam Porter       adam.porter@childrens.harvard.edu   
Principal Investigator: Scellig Stone, MD         
United States, North Carolina
Duke University Hospital Recruiting
Durham, North Carolina, United States, 27705
Contact: Claudia Pamanes       Claudia.pamanes@duke.edu   
Principal Investigator: Matthew Vestal, MD         
United States, Ohio
Cincinnati Children's Hospital Medical Center Recruiting
Cincinnati, Ohio, United States, 45229
Contact: Donald Gilbert       donald.gilbert@cchmc.org   
Principal Investigator: Sudhakar Vadivelu         
United States, Texas
Texas Children's Hospital Active, not recruiting
Houston, Texas, United States, 77030
Chaim Sheba Medical Center Not yet recruiting
Ramat Gan, Israel, 5262000
Principal Investigator: Bruia Ben-Zeev         
National Taiwan University Hospital, Department of Pediatrics and Medical Genetics Recruiting
Taipei, Taiwan, 10041
Principal Investigator: Yin-Hsiu Chien         
Sponsors and Collaborators
PTC Therapeutics
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Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT04903288    
Other Study ID Numbers: PTC-AADC-GT-002
First Posted: May 26, 2021    Key Record Dates
Last Update Posted: December 21, 2022
Last Verified: December 2022

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: Yes
Keywords provided by PTC Therapeutics:
AADC Deficiency gene therapy