The Sabsky family from Boston are desperately trying to raise money for research to help their toddler, Purnell, who is dying after being diagnosed with Niemann-Pick type A, an extremely rare genetic disease that typically kills children by age three.

Save Purnell – this is the tagline of their successful crowdfunding campaign, which has raised more than $600,000 in just over a month, reports STAT. The main aim is to speed up development of a one-shot experimental gene therapy that may be able to treat their son’s neurodegenerative disease.

As an infant Purnell was slow to hit developmental milestones. At his six month checkup, his pediatrician noticed that his liver was enlarged, leading them to the Boston Children’s Hospital genetics department. They were eventually given a diagnosis after a handful of tests, Purnell had Niemann-Pick type A, with no options for treatment. 

Biopharma companies charge premium prices if they are able to come up with a therapy, hence why the Sabkys have turned to the internet to raise money to fund basic research at universities and hospitals.

“It seems the rare disease space is a lucrative, pretty sexy space for companies. But there’s still too much risk, in our opinion, for a company to just jump in,” explained Steven Laffoon, owner of the Wylder Nation Foundation, a non-profit that focuses on spurring research into Niemann Pick.

The foundation is helping families like the Sabsky’s fund raise and funnel money to researchers, in hopes that they’ll be able to push the science “to a point where we can maybe spark some industry interest to take that path to the finish line,” added Laffoon.

It doesn’t take a huge sum to make a dent, for example $100,000, given to the right lab, can go a long way toward developing a novel compound or screening the existing library of drugs for one that might be useful against a particular rare disease,  said Arvin Gouw, vice president of research at the non-profit Rare Genomics Institute.

However, it is an extremely long and often heart breaking journey that can be filled with glimmers of hope that can fizzle out. Additionally, despite rare diseases typically getting speedier reviews at the Food and Drug Administration, it can still take years to get a product from lab to market.

With the help of the Wylder National Foundation, the Sabkys quickly learned that researchers at the University of California, San Francisco, had developed a virus containing a gene that could correct the enzyme deficiency in patients with Nemann-Pick type A.

The research team needed approximately half a million dollars to take the next step. In a bid to raise awareness the family posted a video showing Purnell, who’s now 14 months old, laughing which received national attention. They set a goal of raising $750,000 by the end of June. In total the family have received and collected more than 8,000 pledges. An estimated $500,000 of the money will be used to fund research at the Children’s Hospital of Philadelphia to create the viral vector that could deliver the gene therapy to patients.

It’s not all plain sailing however, the family is required to gain permission from the FDA to allow Purnell to take part in the therapy. The researchers, too, need regulatory approval to run the clinical trial. Some of the money will be used to prepare those specific applications.

They will also likely appeal to the FDA to allow Purnell to take a drug from Genzyme that was developed for a different form of the disease, Niemann-Pick type B. The Sabkys hope to slow the course of Purnell’s disease with what’s essentially an off-label therapy.

The Sabkys know that gene therapies for lysosmal storage disease will be far more effective the earlier they’re administered — before the lipids have had too much time to accumulate in the body.

By the time the treatment is ready to test, Purnell’s disease may have already progressed too far for him to benefit. The Sabkys know that, but they will never give up. 

“We know there will be a point where he’s too far gone neurologically for the treatment to work,” Sam Sabky, Purnell’s father said. “Gradually he’ll become distant, and lose his smile and laugh. That’s really the saddest part we’re racing against.”