UCB Presents Advances in Ultra-Rare TK2d Disease at Euromit 2026

Disease Progression and Care Burden: Patient Survey Data

A survey conducted among ten patients with genetically confirmed TK2d or their caregivers explored the initial symptoms, disease progression, and the importance of early diagnosis. The data reveals that symptom worsening affects mobility, daily activities, and leads to a loss of independence.

The survey indicates that this progression increases the need for adaptations to assist with daily living, leading to a loss of independence and a greater mental burden. These results underscore the crucial importance of early diagnosis to enable appropriate support and treatment.

Starting Pyrimidine Nucleoside Therapy: A Major Positive Turning Point

Among the survey participants, the loss of mobility and/or muscle strength was identified as the most negative turning point in disease progression. Conversely, the initiation of pyrimidine nucleoside therapy proved to be the most significant positive turning point.

Participants reported that starting this treatment enhanced the positive impact on their quality of life as the disease progressed. These results illustrate the key role of early therapeutic intervention in the clinical trajectory of patients.

Increasing Healthcare Costs and Resources with Pediatric Progression

A targeted literature review combined with contributions from experts in five European countries highlighted the substantial burden of early-onset TK2d and the increasing costs and healthcare resource utilization (HCRU) as the disease progresses.

These data demonstrate the profound impact of this disease on children and their caregivers, strengthening the case for optimized detection and management from the early stages.