Hogan Lovells Cadwalader partner Blake Wilson found himself scrolling through LinkedIn one day, when a post caught his eye that would spark a multiyear pro bono effort and lead to a breakthrough treatment for a rare and fatal disorder affecting children.

The post Wilson stumbled upon concerned Riaan Singh Digeorge, a 6-year-old boy from New York City who was born with Cockayne syndrome, an ultra-rare genetic disorder that causes premature aging and death and mostly affects children.

Riaan's parents, Jo Kaur and Richard Digeorge, received the devastating diagnosis when their son was 15 months old. The disorder impacts the body's ability to repair damage to DNA and affects the entire body. Symptoms include brain atrophy, growth failure, vision and hearing loss, and developmental disabilities.

"The worst part is that it kills off brain cells, and it limits lifespan," Kaur told Law360 in an interview. "Some children can live into their late teens, a small percentage survive into adulthood."

For someone like Riaan, who has the most severe version of Cockayne syndrome, the life expectancy is roughly five to seven years.

'We Had To Do Something'

Kaur, an attorney who practices in civil rights and constitutional law, stayed up until 2 a.m. researching the disorder on the day she first learned about it. But, she said it wasn't until she shared her story publicly that the focus shifted towards advocating for the development of an experimental gene therapy.

"We didn't know that we, as parents, could play a role in potentially developing a treatment," Kaur said.

She and her husband spoke with experts at Harvard University and UMass Chan Medical School in Worcester, Massachusetts, and learned about a potential treatment that could slow the disorder and extend life expectancy. But it required time, testing, and clearance from the U.S. Food and Drug Administration for an Investigational New Drug, or IND, study.

It also required money. Potentially millions of dollars, which in turn meant the need to set up some sort of structure to keep the momentum going. The couple founded the Riaan Research Initiative in June 2021.

"We knew at that moment, we could not do nothing," Kaur said. "We weren't sure if we would be successful, we didn't know how it would go, but we wanted to try. We felt we had to do something to cope with the grief."

BigLaw Joins the Effort

It was a post about the initiative and the parents' efforts that caught Wilson's eye on LinkedIn. A colleague of his had liked a post from Kaur that explained the backstory behind the initiative and what it was trying to accomplish. Wilson told Law360 that it "leapt off the page at me."

"I remember thinking, 'this is amazing,'" said Wilson, who was based in Philadelphia. "This family literally just found out about a very serious diagnosis with, in this case, a short life expectancy. These two were off to the races to try to change what was going to be available to them."

Wilson's practice focuses on helping companies work through the FDA's regulatory landscape and bring new products and breakthrough treatments into the market. The skillset was perfect for what RRI was looking to do, so he sent an email to the initiative's general inbox.

"I told them that 'I think what you're doing is amazing and, by the way, I actually work in the FDA regulatory space and I take companies through pre-market development and get clinical trials approved. I would be happy to talk to the firm to see if we could do this pro bono,'" Wilson recalled.

Working With a Ticking Clock

Once Hogan Lovells signed on, Wilson said the process was not all that different from the work the firm usually does. His practice includes working with a range of clients including patient advocacy groups, startup companies and life sciences giants, all of which bring a range of knowledge as to the FDA approval process.

But there were some hurdles when it came to getting an IND approved for Riaan.

"It's challenging because it's a rare disease, it's a novel therapy, and it's a short clock that we were working against in terms of life expectancy," Wilson said.

He and his team — which included partners Mike Druckman, Sally Gu and Barry Burgdorf, former partner Lowell Zeta, counsel Erkang Ai, and associates Bryan Walsh, Ashley Grey, Lauren Massie and Noah Fisher — got to work mapping out a strategy. The attorneys helped RRI pull together the data and information that they knew the FDA would want to see in order to clear treatment for a specific patient.

"Our job is to make sure that we are giving the most buttoned-up approach we can to make sure the FDA teams can act upon information quickly," Wilson said.

Meanwhile, testing with mice showed promising results. Preclinical results of the treatment showed an 8.5-fold increase in life expectancy. Kaur said Hogan Lovells' work became increasingly important as the process inched closer to human clinical use.

"[Hogan Lovells] was a helpful regulatory backstop in terms of how to communicate to the FDA. What to say to the FDA, what not to say to the FDA," Kaur said. "I think that's been really, really helpful in getting us the clearance and for getting Riaan treated."

Having a big law firm in their corner also gave the initiative some added validity.

"It really really helped to keep the momentum going, and it gave us credibility and legitimacy also to our donor audience and supporter base," Kaur said.

For her part, Kaur "knocked it out of the park" when dealing with the regulatory teams," Wilson said.

"I was always very impressed with how prepared she was coming into every single meeting," Wilson said. "She did everything she could to educate herself so she could ask very pointed questions — and I think her background as a lawyer helped here — to pressure test some of the strategies and pathways that were being proposed."

He added, "Jo did that part with flying colors. It was just amazing to watch."

'The Biggest Leap of Faith'

Kaur and Digeorge ultimately secured an IND for a treatment that can deliver a functional copy of the affected gene directly to the brain, which Kaur compared to a truck that carries the healthy version of the gene that is mutated in Riaan's body to as many parts of the brain as possible.

Even after five years and countless hours of work, the parents were still unsure as to whether to expose Riaan to the treatment. The neurosurgical procedure involves drilling a hole in Riaan's head to inject the gene into his brain ventricles.

"When we came to the point of giving it to him, it was not an easy 'yes,'" she said. "We worked all the years to get to this point, but when we were ready to go, we looked at all the potential things that could go wrong. In the end, it was the biggest leap of faith we made as parents."

Hope for the future

In June, Riaan became the first person in the world to receive the gene therapy treatment. Given how severe his Cockayne syndrome is, Kaur said that a dramatic transformation is unlikely. Still, she and her husband are seeing exciting changes in their son.

"He is sitting up straighter and showing more communicative intent," she said. "He used to say 'mom' occasionally. He is still nonverbal, but now he says 'mom, mom, mom' all day. He is more vocal and engaged with his surroundings. He is wanting to walk more with support, and there seems to be an improvement in strength and movement and balance."

A home health aide who works with Riaan told Kaur, "this is a different kid," just weeks after the treatment, she recalled.

The initiative's next step will be to provide gene therapy to other children, Kaur said — including those who are younger and have less severe disease — and move from a single-patient IND to a broader IND. Hogan Lovells will continue to represent RRI as the work progresses.

Wilson said the firm was happy to play a role in such an important breakthrough that has the potential to improve the lives of children like Riaan battling this disorder.

"The number of people who were really pulling for this product development, and the collaboration and working together on — and I can't empathize enough — a very, very short timeline in terms of the prognosis for this type of condition, was really amazing," Wilson said. "We are just very thankful for everyone coming together to collaborate."

For Kaur, the fruits of those efforts are borne out every time she sees her child.

"Each day shows a lot of promise," she said. "And we are very excited about what lies ahead."

--Editing by Alex Hubbard.

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