‘Bubble boy’ treatments showing success in spite of funding challenges

Dr. Moustache has done it again.

Another child has been treated for a deadly affliction known as the “bubble boy” disease. Dr. Moustache and his “magical team” did have a little help, courtesy of the people of California who put tens of millions of dollars into financing his cell and gene therapy.

Jakob, photo courtesy of Paola Andrea Fernández de Soto Abdul-Rahim

But just who is Dr. Moustache? He is a fictional character conjured up by Paola Andrea Fernández de Soto AbdulRahim. She is the grateful mother of the child who was treated last week by the real-life, mustachioed researcher Donald Kohn at UCLA. In her children’s book, “In My Magical Bubble,” Dr. Moustache plays a key role. (Moustache, by the way, prefers the British spelling of his name instead of the American version – mustache.)

Fernández de Soto AbdulRahin’s five-year-old son, Jakob inspired her book, and his real-life treatment was completed last Friday. Kohn, his “magical” team and Jakob’s family all celebrated with a moustache party in Jakob’s hospital room.

It was “a moment to honor the most wonderful man who is giving us our son back, the beautiful team that helps him complete the magic and create the beautiful memories in Jakob’s medical journey,” de Soto AbdulRahim told Capitol Weekly in an email.

Jakob’s story began just 10 days after he was born. That’s when his immune deficiency was detected. Kohn’s story began nearly 40 years ago. That is how long he has been working to solve the problems connected to treating the rare disease, ADA-SCID, and related afflictions. For the state of California, the story began nearly 20 years ago when voters created the state stem cell agency, officially known as the California Institute for Regenerative Medicine (CIRM).

The agency has pumped $43 million into Kohn’s work, which also includes research to treat sickle cell disease and other deadly ailments. His treatment for ADA-SCID has been successfully used on more than 50 persons. The genetic disease leaves a baby without an immune system and subject to death from even common ailments. The affliction came to be known as the bubble boy disease after a 1976 movie, “The Boy in the Plastic Bubble,” starring John Travolta.

Despite its success, Kohn’s treatment is still not available to the general public and is limited to clinical trials. The situation amounts to what policymakers call a “wicked problem,” a complex situation filled with obstacles that hamper the commercialization and accessibility of astronomically expensive gene therapies, whose costs run as high as $4 million each or more.

Overcoming those obstacles has triggered a national and global debate about how to cut the costs of the revolutionary treatments and make them more available. Indeed, in 2020, California voters charged the state’s $12 billion stem cell program with devising ways to make the taxpayer-financed treatments accessible and affordable.

“We need to agree that there is a lot to do for many more families and the future of commercialized therapies, a hope for all, a life opportunity for many more children.”

Kohn ran afoul of the “wicked” problems four years ago when the British company, Orchard Therapeutics PLC, which had the exclusive license to the work financed by CIRM, gave up on the therapy for financial reasons. The company chose to pursue other research that it deemed would be more profitable, as was first reported by Capitol Weekly. The treatment for Jakob was completed using dollars originally destined for Orchard.

Intractable problems remain. UCLA has still not found an industry partner to bring the therapy to market. Kohn plans to apply for another CIRM award to further advance the treatment. CIRM has yet to make significant progress on overall affordability issues, although voters provided it with as much as $94 million to find solutions.

Gene therapy treatments are all handcrafted for a specific individual, which boosts their cost. Most apply only to a relatively small number of persons. In the case of the bubble baby disease, only an estimated 50 to 100 children are born annually in the U.S. with ADA-SCID. The small number of potential customers makes it difficult for a company to make a profit.

Jakob is the fifth patient treated at UCLA since the bubble baby funding came back to UCLA.

“The previous four are 15, 14, 11 and 5 months out from treatment, and all are showing signs of excellent engraftment of the gene-corrected stem cells and immune reconstitution, as we saw in the prior patients treated 2013-2017,” Kohn said.

Three more patients are expected to be treated before CIRM funds run out.

“Then we will need to stop,” Kohn said in an email.

At the end of this month, more millions from CIRM will be sought to develop commercial-grade manufacturing and help move to commercialization. The additional funding will provide treatment for another six patients from the 15 on the waiting list. (See the California Stem Cell Report for more details on Kohn’s plans.)

“The work is definitely not done,” Jakob’s mother said. “We need to agree that there is a lot to do for many more families and the future of commercialized therapies, a hope for all, a life opportunity for many more children.

“We are so extremely happy,” she said. “Having the opportunity to be here is a blessing, and being treated by Dr. Kohn and his amazing team is a privilege.” As for CIRM, she was grateful for its millions in support and for “helping to spread the voices of parents fighting for their children like we have been doing for Jakob.”

About Dr. Moustache, she said, “On July 19th Jakob received his gene therapy, and everyone joined the moustache party. (It was) a moment to honor the most wonderful man who is giving us our son back, the beautiful team that helped him complete the magic and create beautiful memories in Jakob’s medical journey.

“Everyone deserves a Dr. Moustache in their life,” she said. “And thanks to Dr. Kohn, we have that iconic representation of love, kindness and life.”

Jensen is a retired newsman and has covered CIRM for 19 years on his newsletter, the California Stem Cell Report. He authored the book, “California’s Great Stem Cell Experiment,” in 2020.