When Time Is the Most Critical Resource: How an Ambitious Dad and Sartorius Aim to Advance Gene Therapy for CDKL5 

What if a single gene changes everything? For eight-year-old Reyna, a rare mutation means daily seizures and developmental challenges. Her father, Jainu Jogani, refused to wait for a cure. Instead, together with partners like Sartorius, he aims to advance a gene therapy for CDKL5 Deficiency Disorder. Explore how determination, innovation, and collaboration are creating hope for Reyna and children worldwide.

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When Jainu Jogani’s daughter Reyna was 20 days old, she began showing unusual hand and eye movements. Within weeks, EEG and genetic testing confirmed a diagnosis: CDKL5 Deficiency Disorder (CDD) – a rare disease affecting roughly 1 in 40,000 children.

Reyna, now eight years old, lives with seizures, developmental delays and complex medical needs. “Some children have up to 40 seizures a day,” Jainu explains. “There is no cure. Most care is supportive.”

We chose to not take a backseat and wait for someone to deliver, but we are working on making this happen for our children.

Rather than waiting for traditional drug development timelines, Jainu, a biomedical engineer by training, co-founded Child’s Cure Genetic Research to pursue therapeutic approaches. “Programs initiated by large biotech companies were often deprioritized. We chose to not take a backseat and wait for someone to deliver, but we are working on making this happen for our children.” 

In April 2024, the organization launched its own lean gene therapy initiative together with a Contract Development and Manufacturing Organization in the United States, trying to target the root cause of CDD: the missing or dysfunctional CDKL5 protein.

Addressing the Disease at Its Origin

CDD is caused by mutations in the CDKL5 gene on the X chromosome. Without sufficient functional CDKL5 protein, neuronal signaling is disrupted, leading to early-onset, intractable epilepsy and profound developmental impairment.Existing care largely focuses on managing symptoms, particularly epilepsy, rather than correcting the underlying genetic defect.

Jainu’s ambition: Advancing an AAV9-based gene therapy designed to reintroduce a functional copy of the CDKL5 gene into brain cells. The viral vector — a modified, non-replicating capsid — delivers DNA into neurons, enabling cells to produce the missing protein.

Preclinical studies are ongoing. The next milestone is IND submission in the U.S., following toxicology studies.

Parallel approaches, including antisense strategies, drug repurposing targeting CDKL2, enzyme replacement research, and a newly initiated mRNA program, complement the effort. But gene replacement remains central because it addresses the disorder at its genetic root.

“Time is of the essence,” Jainu says. “We are focused on delivering what is absolutely necessary to move to clinic — nothing exploratory that slows us down.”

From Mission to Manufacturing: A Collaborative Effort

Scaling AAV gene therapy from concept to clinical material requires advanced viral vector manufacturing – a field where Sartorius technologies can make a difference.

Mayra Mancia, Commercial Development Manager at Sartorius, recalls the first conversation with Jainu in early 2025. “It’s rare to see a parent this deeply involved in therapeutic development. We understood that in a parent-led program like this, resources are limited and timelines critical — not in abstract terms, but personally.” 

Sartorius understood the urgency from the very beginning and helped deliver the material that is needed to ensure that our timelines for material manufacturing are met.

The Sartorius team made sure to facilitate the orders as fast as possible, navigating administrative setup, aligning production schedules and ensuring that materials were delivered when the clinical programs depended on them. 

“We are very grateful to the team,” Jainu says, “Sartorius understood the urgency from the very beginning and helped deliver the material that is needed to ensure that our timelines for material manufacturing are met. They are playing a significant role in the project.”