When a child is diagnosed with an "ultra-rare disease," their family members will often reorganize their lives and finances in search of a treatment—and some families have even entered the drug development industry to research and develop potential treatments, Jared Whitlock reports for Kaiser Health News.

Cheat sheet: Ultra high-cost drugs

Most ultra-rare diseases do not have a treatment

According to the NIH, there are currently around 7,000 known rare diseases, which affect roughly 1 in 10 Americans. Half of all rare-disease diagnosis affect children—and just 30% of children diagnosed with a rare disease will survive to see their 5th birthday.

Still, around 95% of rare diseases do not currently have an FDA-approved treatment or therapy. Notably, just 12% of drugs in clinical trials ever receive FDA approval.

In addition, very few biotech firms research and develop treatments for rare diseases, largely due to the limited number of potential patients on the market. Currently, rare disease research makes up just 12% of clinical trials, "[b]ut the market becomes much less attractive for ultra-rare diseases because of the much smaller pool of patients," Whitlock writes.

Why some families become drug developers

To drive research efforts, many families have formed foundations to source seed money for rare disease research. While families have historically relied on biotech companies to develop treatments, some have formed their own biotech businesses, becoming drug developers to help find treatments for ultra-rare diseases that impact 1,000 patients or fewer at a given time.

However, "families aren't likely to find a cure—let alone make a profit" if they can successfully develop a treatment for an ultra-rare disease, Whitlock writes.

"If a drug should get approved for a disease with 1,000 patients, the probability that there are any material profits, I would say, is actually remote," said James Geraghty, who serves on biotech boards and is the author of "Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology."

"But families say cures, not profits, motivate them," Whitlock notes.

For example, when Holly and Dan Carmichael's 9-month-old daughter was diagnosed with PMM2-CDG—an ultra-rare disease that causes potentially fatal gene mutations, they raised $250,000 for a single-patient clinical trial. As a result of the trial, their daughter, Maggie Carmichael, began to show improvements.

Following the trial results, in the hopes of finding a cure, the Carmichael family chose not partner with a biotech company to develop a potential treatment and instead entered into a joint partnership with their organization, Maggie's Cure, and Perlara PBC to find new and existing drugs to treat rare diseases.

Last December, the company was approved for a 40-patient clinical trial that could lead to FDA approval for the drug that treats PMM2-CDG.

However, the Carmichael family is not alone—many families have entered the drug development industry in search of a cure for a loved one. "Dozens, if not hundreds, of nonprofit family foundations across the nation focus on rare-disease treatments amid the dearth of public and private funding," Whitlock writes.

In June, Vibe Biotechnology announced a cryptocurrency-based model to raise money to help fund rare-disease drug development. According to the company, investors will be able to vote on a variety of rare-disease research proposals, and patients' families will be given ownership stakes in potential treatments.

"The challenge for rare diseases isn't necessarily finding a treatment—it's funding it," said Alok Tayi, CEO and co-founder of Vibe Biotechnology. "For the first time, Vibe Bio is giving patients with rare and overlooked diseases access to the funding and community support they need to develop cures and ownership over the results."

According to Whitlock, many families also "strike out on their own" so they can have more control.

"Typically, if research advances far enough, families entrust biotech companies to bring drugs to market," he writes. "A company usually gains intellectual property rights as part of taking on the financial risks of developing such treatments. But if that company shelves the program, parents are left helpless and heartbroken." (Whitlock, Kaiser Health News, 7/21)