PHILADELPHIA, PA — iECURE, Inc. recently unveiled encouraging early data from its ongoing OTC-HOPE Phase 1/2 study at the 2025 ACMG Annual Clinical Genetics Meeting. The study, which evaluates the investigational therapy ECUR-506, has demonstrated partial restoration of functional ornithine transcarbamylase (OTC) enzyme activity in the first patient dosed.
This research is significant for infants with neonatal onset OTC deficiency, a rare and severe genetic disorder that impairs ammonia elimination, leading to life-threatening hyperammonemic episodes. Currently, liver transplantation is the only long-term option for patients with the most severe forms of the disorder.
“Long-term restoration of ornithine transcarbamylase activity has the potential to allow infants afflicted with neonatal onset OTC deficiency to live healthier lives unburdened by hyperammonemic crises and ongoing medical management,” said Gabriel Cohn, M.D., MBA, Chief Medical Officer of iECURE. “The data generated for the first six months post treatment with ECUR-506 continue to be encouraging for us. We are eager to continue enrolling patients into the OTC-HOPE study and are hopeful that we will continue to see similar results.”
Key Findings from the First Study Participant
The presented data builds on preliminary findings previously reported for the first patient, who received a single infusion of the lowest ECUR-506 dose (1.3 x 10¹³ GC/kg) at 6.5 months of age. Twelve weeks after the treatment, key clinical milestones were achieved, including discontinuation of ammonia scavenger medications and the introduction of a protein-appropriate diet for infants without OTC deficiency.
The therapy was generally well tolerated, though the patient experienced asymptomatic Grade 3 transaminitis four weeks after treatment. This condition resolved by the eighth week, following immunosuppressive intervention.
Additionally, mean blood urea nitrogen (BUN) levels increased significantly post-treatment, suggesting possible restoration of some enzyme function. Lower-than-normal BUN levels are a characteristic of OTC deficiency, as deficient enzyme activity suppresses urea production.
“The observation at the end of the 6-month follow-up period that plasma ammonia levels remained within normal limits following the removal of ammonia scavenger medicines and restoration of a diet with typical protein levels as well as increased blood urea nitrogen levels suggest some OTC enzyme activity may have been restored following treatment with ECUR-506,” said Julien Baruteau, M.D., Ph.D., principal investigator in the study.
Hope for a New Therapeutic Path
For families managing severe neonatal onset OTC deficiency while awaiting liver transplants, iECURE’s investigational ECUR-506 therapy could represent a major breakthrough. Restoring OTC enzyme activity offers the potential for infants to live without the constant threat of hyperammonemia or intensive medical intervention.
“For families who have struggled to manage their babies’ health while waiting for liver transplant, currently the only long-term solution for those afflicted with the most severe forms of OTC deficiency, a solution that could restore OTC activity would be an incredibly exciting option,” said Dr. Baruteau, who also serves as a Consultant in Metabolic Medicine at Great Ormond Street Hospital for Children in London.
With the OTC-HOPE study continuing to recruit patients, iECURE remains optimistic about the possibility of delivering a life-changing therapy for those living with OTC deficiency. This latest data points to the exciting potential of gene-based interventions in addressing rare genetic diseases and improving long-term outcomes for affected families.
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