Maggie wasn’t developing like other kids. Every parent’s concern when their child is not meeting the mile marker of growth…What is wrong?
Mom and Dad, Holly and Dan Carmichael learn their daughter has PMM2-CDG, a potentially fatal gene mutations that cause abnormal enzyme activity. It impacts the ability to walk and eat develop normally.
Sadly, because it is a rare disease few biotech firms focus on medication for the treatment of rare diseases given the limited size of the patient market. In terms of clinical trials, only 12% are focused on rare diseases.
According to the National Institutes of Health, there are roughly 7,000 rare diseases, affecting nearly 1 in 10 Americans. A rare disease is generally considered one that affects fewer than 200,000 people in the U.S. at a given time. Only 30% of children with rare diseases will live to see their 5th birthday. Source: Kaiser Health Network (KHN)
What Do Parent’s Do?
Maggie’s parents raised $250,000 for scientists to screen existing drugs knowing the uphill battle with trials and were able to find drugs that had some promising results, but the search continued.
Upon a child’s diagnosis, parents will often quit their jobs and reorder their lives to find a treatment. Families will use their own money or raise funds to do anything to save their child. It is often a lonely and frustrating path with very little support.
With so little focus from pharmaceutical companies on those families dealing with a child with a rare disease what are the options?
Parents Become Drug Developers
The Carmichaels created their organization Maggie’s Cure and researched various options and decided to form a partnership with Perlara PBC, a company that works to identify new and existing drugs to treat rare diseases.
Perlara secured approval last December for a 40-patient clinical trial that could one day lead the FDA to approve the drug for PMM2-CDG.
It would also defy what doctors told the Carmichaels about the prospects of a treatment when Maggie was diagnosed at 9 months.
Families with children with rare diseases, have pushed for support and resources to speed up cures usually by starting Go-Fund me pages or getting second mortgages on their homes to form foundations that seed money for research.
If they find success with these efforts, they will hand off to a biotech company. The downside to trusting the biotech companies to bring drugs to market is if research advances far enough, the company usually acquires the financial risks of developing treatments. If for some reason the company decides to longer continue with drug research and development, families are left helpless and heartbroken.
Now this has shifted, and families are forming their own biotech businesses, acting as drug developers to find treatments for rare diseases.
The Uphill Battle
Sadly, chances are still slim as only about 12% of drugs in clinical trials are ever approved by the FDA, leaving families struggling to find a cure and make some return on all they have sacrificed financially.
Still…what motivates families are cures, not profits or return on finances.
Holly and Dan are helping pay for the clinical trial which is estimated to cost $3M – $5M. $2M is coming from a federal Small Business Innovation Research grant.
Holly is the Chief Operating Officer for Maggie’s Pearl, and she is motivated to support the drug’s development for her daughter and other families while keeping the prices low. They can do this since Maggie’s Pearl is not a typical biotech company with shareholders and profit thresholds.
Families who choose this option like investing in the business to have more control and support change in the pharmaceutical industry and other families that are facing similar challenges.
Maggie’s Pearl
Maggie’s Cure LLC was started by Dan and Holly Carmichael determined to find a cure for their child with a rare genetic disease and improve the quality of life of children with PMM2-CDDG.
In 2017 Maggie’s Cure began work with Ethan Perlstein, founder of Perlara, the first biotech public benefit corporation focused on partnering with families to find treatments for rare genetic diseases.With the partnership and research, approval was obtained from the FDA to start a single-patient compassionate use investigational new drug (IND). The trial and treatment were started in January 2020 and Improvements were noted in gross motor, stability and strength and laboratory results.
In August 2020, Maggie’s Cure LLS became Maggie’s Pearl LLC. It was formed as a joint venture between Perlara and Maggie’s Cure and the Mayo Clinic. MP got the green light in December 2021 from the Food and Drug Administration to begin a Phase III clinical trial in 40 patients with PMM2-CDG.
Summary
With companies like Perlara and others that have since come forward to help bring change, resources and financial options for parents who have a child with a rare genetic disease.
Last month, a Boston company called Vibe Biotechnology announced a cryptocurrency-based model to raise money for rare-disease drug development. Investors will have the power to vote on rare-disease research proposals, and patients’ families have ownership stakes in promising therapies.
“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.”
The company has launched two biotech companies in partnership with two foundations: Chelsea’s Hope, which is focused on Lafora disease, a fatal form of progressive myoclonus epilepsy, and NF2 BioSolutions, which hopes to accelerate a gene therapy for neurofibromatosis Type 2, which causes the growth of noncancerous tumors in the nervous system.
By bringing awareness, to the Carmichael family and their path to provide quality of life for their child and the companies offering up alternative options, we hope this helps other families and brings awareness to the much needed change needed in healthcare.
Resources:
Parents Become Drug Developers to Save Their Children’s Lives