Raghav is a two-year-old boy born with an ultra-rare disease caused by a mutated GPX4 gene. He and eight other children are the only ones in the world who have been diagnosed. It causes issues with vision and hearing, low muscle tone, problems with eating, and skeletal abnormalities of the pelvis, spine, and long bones.

About ten months after he was officially diagnosed, a team of researchers was assembled to find and repurpose drugs that have already received FDA approval in an effort to discover a viable treatment. Quickly, they identified a drug that demonstrated the ability to treat skeletal symptoms of the condition. When they were given to Raghav, unfortunately, they were not effective. He is still unable to swallow, chew, talk, stand, hold up his head, or sit.

His story is similar to that of other rare disease patients; they are unable to find an effective treatment.

Rare Disease Research and Treatments

Rare disease research faces a number of obstacles: limited funding, low awareness, and a lack of interest as a few. This lack of research leads to a lack of therapies, leaving many patients without treatment. While minimal research stops drug development, the technology to create viable therapies for rare diseases exists. Gene editing, antisense oligonucleotides, and gene replacement therapy have the potential to be used as a therapy many rare diseases, yet 95% of these conditions go without an FDA approved treatment.

Improvements must be made to the drug development system that allow for rare disease patients to receive the same benefits that other patients do. StatNews proposes three strategies to do so.

Focus Early-Stage Drug Development on Patients

For a long time, many rare conditions were seen as a “death sentence,” causing drug developers to ignore them. It was due to the endless effort of patients and advocates that led the charge to raise money, found organizations, and fund research.

While private foundations and national patient organizations offer help to help rare disease patients through advocacy and other resources, there needs to be increased funding so that thousands of these organizations can continue to do their work.

Use Platforms to Find Therapies for Ultra-Rare Diseases

Strategies have already been created to aid in the search for rare disease treatments:

• The Bespoke Gene Therapy Consortium lowers the price of gene therapy development by utilizing master regulatory files, streamlined templates, and a singular production process
• Antisense oligonucleotide technology developed by the n-Lorem Foundation create treatments for individual rare diseases
• The Columbus Children’s Foundation has created an approach to make the drug development process more affordable, accessible, and efficient

These strategies have not only been developed to aid in the creation of rare disease treatments, but they will aid in the drug development for common conditions as well.

More Public Policy to Create Incentives to Invest

In order for there to be true improvements in the drug development process, there needs to be legislative and regulatory changes paired spurred by incentives. Historically, policy has led to treatment development, with examples like the Orphan Drug Act of 1983 and Pediatric Priority Review Voucher Program. Now, it’s time for further legislative change to lead to further improvements.

Looking Forward

The strategies listed are not the only efforts that should be made to help rare disease patients. There must be advances in diagnosis, regulatory science, and clinical development. Patient organizations have had past success, and other organizations need to follow their lead. By taking an approach that is centered on the patient, there will be the most improvement for even the rarest conditions.