Parents Develop Drugs to Help Their Children with Rare Diseases


Unfortunately, the drug development process can be difficult, especially in the rare disease sphere. Many drug developers choose to focus on larger disease states, as these are typically more profitable and can reach a wider range of customers. But where does this leave parents whose children have rare diseases? After receiving a rare disease diagnosis, many parents are left wondering what will happen next. In increasing numbers, this is driving parents of children with rare diseases to make a change on their own.

An article published in Fortune shares the story of families who were searching for a therapy or cure, but without luck. Only 12% of clinical trials focus on rare diseases, and only 12% of drugs in clinical trials become FDA-approved. This has left 95% of rare diseases without any therapeutic options. After a diagnosis, many parents have to transition away from their workplace to provide the care needed by their child. Parents are also forming foundations, fundraising, and driving research.

Creating Drugs for Rare Diseases

In mid-August 2022, Patient Worthy published an interview with the Landman family. The Landman family founded Moonshots for Unicorns after their daughter Lucy became one of fewer than 50 people worldwide diagnosed with PGAP3. After partnering with a variety of scientists and researchers, such as Dr. Ethan Perlstein of Perlara, and other organizations, such as the JAX Center for Precision Genetics, the Landman family is on their way towards an AAV9 gene therapy.

Perlara also formed a partnership with Maggie’s Cure, an organization formed by Holly and Dan Carmichael after their daughter Maggie was diagnosed with PMM2-CDG. The Mayo Clinic also joined on, and Maggie’s Pearl was born. In fact, part of the reason that the Landman family was drawn to Dr. Perlstein was because of the research he had done to help Maggie. After the Carmichael family contributed $250K to drug screening, one agent was able to significantly improve Maggie’s condition (hint: you can read about it in the above interview!). Eventually, Maggie’s Pearl was able to bring the drug to clinical trial and, if later approved, hopes to distribute it to all those in need.

Chelsea’s Hope, a foundation to raise awareness of Lafora disease, and NF2 Biosolutions, which help to create gene therapies for neurofibromatosis type 2 (NF2), have also partnered with a biotechnology company to help fund and develop therapies. Vibe Biotechnology is working to help families in the rare disease community work towards a change.

Families Face Pressure

Many families feel the pressure to develop a therapy quickly to help their children. Of course, it can be difficult to find the time or space to do so. Some families reach out to biotechnology companies to assist with the drug development and marketing process. However, this does not always work. For example, the Cure Mito Foundation helped to fund research and begin developing a therapy for patients with Leigh syndrome. Taysha Gene Therapies joined in as well, assisting with funding and research in exchange for licensing and rights. But after part of the portfolio was cut – including the therapy being developed for Leigh syndrome – families were incredibly saddened. Courtney Boggs was hoping that the therapy could be used for her daughter.

It’s for this reason that many families want to take the drug development process into their own hands – to ensure that everything is being done with their children in mind. Even when partnering with other groups, families are asking for payments or the ability to regain rights if needed. For example, the Beyond Batten Disease Foundation helped fund a therapy for Batten disease. Theranexus, who is handling development costs, will also pay royalties to the family if the drug later becomes approved.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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