Classic Galactosemia is an ultra-rare inherited metabolic disorder with a global prevalence ranging from 1 in 50,000 to 1 in 90,000, depending on ethnicity. The condition is often misdiagnosed, and treatment options are limited. Precision partnered with a European sponsor to design and execute a Phase 3 trial in pediatric patients, many of whom had never been studied in a clinical setting.
|
Study Type |
Phase 3, pivotal + open-label extension |
|
Therapeutic Area |
Rare Neurology / Genetic Deficiency |
|
Indication |
Classic Galactosemia in children ages 2–18 |
|
Geography |
United States |
|
Sites |
4 sites; additional sites opened based on patient location |
|
Sponsor |
European biotech company |
|
Precision’s Role |
End-to-end operational support including protocol design, patient recruitment, home nursing, drug delivery, and remote monitoring |
|
Key Challenges |
Ultra-rare indication, misdiagnosis, decentralized care, travel logistics, temperature-sensitive IP, and COVID-19 disruptions |
From protocol concept to patient management, Precision’s approach was rooted in flexibility, creativity, and collaboration—with the sponsor, investigators, and patient advocacy groups.
At the time of planning, only two children with the specific genetic mutation had been documented in the literature. The FDA approved a 10-patient trial (5 active, 5 placebo), with the potential for approval if results were positive. Recognizing the recruitment challenges, Precision proposed a novel design: all patients would initially receive the study drug, followed by randomized withdrawal and an open-label extension. The FDA agreed, and recruitment improved.
Precision worked closely with the sponsor and lead investigator to define clinically meaningful endpoints and a statistical framework that could support regulatory approval.
Recruiting for ultra-rare pediatric trials requires ingenuity. Precision developed over 70 strategies to identify patients, including:
Before study start, collaboration with advocacy groups identified over 20 interested patients. The most effective strategy was to identify patients first, then open a site near them if travel was not feasible.
To accommodate families and reduce burden, Precision implemented a hybrid decentralized model:
During the COVID-19 pandemic, these decentralized elements were expanded to ensure continuity of care and data collection.
Precision coordinated:
The team identified potential safety issues in the first 30 patients, prompting a protocol amendment and drug reformulation. Precision’s medical staff worked closely with sites to assess impact and ensure patient safety.
Ultra-rare pediatric trials require customized, patient-centric approaches. Flexibility in design, logistics, and communication is essential to overcome barriers and ensure safety and compliance. The study remained on target for enrollment, despite the complexity of the indication and global logistics. Precision’s adaptive model—centered on patient needs and site support—enabled successful trial execution in one of the most challenging rare disease contexts. Precision successfully enrolled approximately 50 patients.