Targeted delivery
The AAV9 capsid has a proven affinity for central nervous system cells. Delivered intracerebroventricularly (i.c.v.), it disperses through cerebrospinal fluid to reach cortex, hippocampus, and deep brain nuclei.[1][5]
About our CDKL5 AAV9 program
We are a coalition of families, clinicians, and drug developers partnering to deliver a one-time gene therapy that addresses the fundamental deficit driving CDKL5 Deficiency Disorder (CDD). By transporting a functional CDKL5 gene directly into neurons, we aim to restore protein expression, stabilize circuitry, and reclaim developmental potential.
How the therapy works
Restoring CDKL5 protein
Once in the nucleus, the payload expresses full-length CDKL5 protein to compensate for the endogenous gene disruption. This supports synaptic scaling, dendritic arborization, and seizure suppression.[1][5]
Sustainable expression
Long-term preclinical data indicate durable expression with no integration into genomic DNA, aligning with established AAV safety expectations from approved therapies like Zolgensma® and Luxturna®.[2]
Leadership team
Dr. Gai Ayalon, Ph.D.
Drug Development Advisor
Neuroscientist leading the CDKL5 Research Foundation's gene therapy program through clinical development. Previously led clinical development programs for pediatric neurodevelopmental disorders at Ultragenyx Pharmaceutical.
Dr. Nalin Gupta
Clinical Advisor
Pediatric neurologist specializing in rare genetic disorders with expertise in clinical trial design and regulatory pathways.
Dr. Adam Numis
Clinical Investigator
Pediatric neurologist with focus on epilepsy and developmental disorders, contributing to natural history studies and trial protocols.
Dr. Heather Olson
Clinical Investigator
Pediatric epileptologist at Boston Children's Hospital with extensive experience in CDKL5 Disorder clinical management and research.
Dr. Jacinthe Gingras
Preclinical Research Advisor
Molecular biologist specializing in gene therapy vector development and CNS delivery mechanisms.
Dr. Lauren Black
Clinical Research Coordinator
Expert in clinical trial operations and patient advocacy for rare disease populations.
Dr. Michael Templin
Scientific Advisor
Neuroscientist with expertise in neurological disease models and therapeutic validation.
Tracy Johnson
Program Manager
Experienced program manager coordinating cross-functional teams and regulatory submissions for gene therapy programs.
Dr. Sangeeta Joshi
Regulatory Affairs Advisor
Regulatory strategist guiding IND preparation and FDA interactions for pediatric rare diseases.
Dr. Tim Cote
Clinical Development Advisor
Clinical development expert with deep experience in orphan drug programs and accelerated pathways.
Dr. Paul Herzich
Medical Monitor
Pediatric specialist providing medical oversight and safety monitoring for clinical trials.
Dr. Kruti Patel
Clinical Operations Lead
Clinical operations specialist managing site selection, patient recruitment, and trial logistics.
Dr. Lester Suarez
Biostatistics Advisor
Biostatistician designing adaptive trial protocols and endpoint analysis for rare disease studies.
Ilya Musavey
Technical Operations
Operations specialist managing GMP manufacturing partnerships and supply chain logistics.
Sarah Caffey
Community Engagement Director
Leading family outreach, education programs, and patient advocacy initiatives across global CDKL5 community.
Dr. Matthew Simon
Translational Medicine Advisor
Physician-scientist bridging preclinical research and clinical application for neurological gene therapies.
Dr. Vincent Pons
Scientific Advisor
Molecular biologist with expertise in AAV vector design and neurodevelopmental disorder mechanisms.
Dr. Kristin Loomis
Preclinical Development Lead
Leading toxicology studies and IND-enabling pharmacology for AAV9-CDKL5 gene therapy vector.
Preclinical evidence at a glance
Neuron targeting
- i.c.v. dosing transduced ≥50% of neurons in cortex, hippocampus, and thalamus.[1]
- Improved hindlimb clasping, open-field exploration, and contextual fear conditioning.[5]
Functional recovery
- UX055 restored motor and cognitive function in CDKL5 knockout mouse models.[2]
- Human induced pluripotent stem cell organoids showed corrected hyperexcitability.[2]
Safety and biodistribution
- Favorable biodistribution compared with intrathecal delivery, reducing peripheral exposure.[5]
- No vector-related toxicity observed at efficacious doses (3e11–5e11 vg/g brain).[1]
Milestones
- April 2024: Completed vector design freeze and pre-IND meeting feedback integration.
- Q4 2024: Launch translational toxicology in partnership with CRO network.
- Q2 2025: Manufacture GMP batch and finalize release assays.
- Q2 2026: Target first participant dosing pending $3.5M fundraising goal.