A landmark moment in medicine has arrived with the treatment of a young girl suffering from an ultra-rare genetic disorder. This case signals a shift in how regulators approach drugs for rare diseases. It now allows therapies tailored for individual patients to be developed more efficiently.
When ten-year-old Mila Makovec died in 2021 from a neurodegenerative disorder, she had already made history as the first patient to receive a drug designed solely for her.
Her mother, Julia Vitarello, refused to let her daughter’s legacy end there. She worked to ensure other children with rare genetic conditions could access personalized medicines faster and more efficiently. This effort has influenced the way ultra-rare disorders are treated.
Understanding Ultra-Rare Disorders
Ultra-rare disorders affect fewer than one in 50,000 people. Some are so uncommon that they are unique to a single individual. Traditional drug development cannot cater to such small populations. Personalized approaches are essential for these cases.
To address this, Vitarello founded Mila’s Miracle Foundation. The organization funds and facilitates treatment for children with unique genetic disorders. In partnership with Boston Children’s Hospital, the team developed an antisense oligonucleotide (ASO) drug. This drug targeted the specific genetic mutation causing Mila’s condition.
After Mila’s passing, Vitarello began advocating for regulatory reforms in both the U.S. and U.K. She wanted to make it easier to develop custom treatments for ultra-rare conditions. She also launched EveryONE Medicines, a biotech company in Boston. The company focuses on scaling the development of individualized therapies.
A Regulatory Milestone in the U.K.
On January 13, 2026, a girl referred to as Patient A, diagnosed with Niemann-Pick disease type C (NPC), received an ASO at Great Ormond Street Hospital in London. This treatment was part of a trial designed to make these therapies standard rather than one-off interventions.
The Medicines and Healthcare Products Regulatory Agency (MHRA) introduced a “master protocol.” It allows Patient A and ten other children with fatal or life-threatening neurodegenerative disorders to receive custom drugs. Unlike conventional trials, which focus on single medicines, this protocol evaluates a process for developing drugs. This approach makes regulatory approval more flexible for rare conditions.
Lawrence Tallon, head of the MHRA, described this as “the start of what is a very, very exciting future for the treatment of genetic diseases.”
How ASOs Work
NPC is caused by a mutation in a gene responsible for clearing excess fats and chemicals from brain cells. The accumulation of these substances damages cells, leading to epilepsy, muscle weakness, and cognitive decline.
Antisense oligonucleotides work by targeting RNA molecules. The drug used for Patient A, called avasen, binds to RNA messengers. It masks the errors in the gene, allowing cells to produce healthy proteins. Protein production can begin within hours of treatment. However, it may take longer to see improvement as toxic substances are cleared from the brain.
The MHRA’s protocol outlines safety monitoring, data collection, and drug movement in the body. It defines which conditions are eligible—fatal or life-threatening neurodegenerative disorders. The protocol also specifies a standard ASO platform. This platform can be customized for each patient with minimal adjustments.
Expanding Access and Global Collaboration
Vitarello’s advocacy found strong support in the U.K., partly because Genomics England had identified many children with rare disorders in need of treatment. In 2023, the MHRA, Genomics England, and Mila’s Miracle Foundation worked with Oxford University experts to create the Rare Therapies Launch Pad. The goal is to establish regulations for personalized medicines.
In the U.S., the Food and Drug Administration is developing a similar pathway called “plausible mechanism” approval. The British protocol requires data sharing, which can help researchers and companies develop ASOs faster. European initiatives, such as 1 Mutation 1 Medicine, are also exploring ASO therapies for ultra-rare conditions.
Vitarello, now CEO of EveryONE Medicines, is connecting with scientists and parents worldwide. She is exploring ways to make these treatments more accessible and financially sustainable in countries like Australia, Germany, Italy, Spain, and Qatar.
Implications for Public Health
Individually, ultra-rare disorders are uncommon. Collectively, they have a significant impact. Customizable drug platforms could enable routine newborn genetic screening. This would allow early intervention and improve long-term outcomes for affected children.
Process approval can also reduce the time and cost of developing ASOs. Currently, creating an individualized ASO takes two to three years and costs $2–3 million. Under the new system, development could fall below nine months and $1 million. This makes ASOs more feasible than many one-off gene therapies.
Grouping ultra-rare genetic disorders into treatable categories may also attract pharmaceutical investment. RNA-targeting drugs and gene-editing therapies could expand to these disorders. For example, Aurora Therapeutics, founded by Nobel laureate Jennifer Doudna, is exploring treatments for ultra-rare diseases.
For the first 11 patients in the U.K., ASOs are not just a potential option—they are the only chance to survive and thrive.
A New Era in Rare Disease Treatment
The treatment of Patient A represents a turning point in medicine. Regulatory frameworks now support personalized therapies, offering hope to children with ultra-rare neurodegenerative disorders.
Standardized ASO platforms, process approvals, and global collaboration are transforming the treatment of rare diseases. They reduce costs, accelerate development, and expand access to life-saving therapies for families around the world.