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Abstract Details

The Disease Course of Untreated Patients with Thymidine Kinase 2 Deficiency (TK2d) Aged >12 Years at TK2d Symptom Onset: Findings from the Largest International TK2d Dataset
Neuromuscular and Clinical Neurophysiology (EMG)
P2 - Poster Session 2 (8:00 AM-9:00 AM)
11-020

To describe the disease course of untreated patients with thymidine kinase 2 deficiency (TK2d) aged >12 years at TK2d symptom onset. Disease course in patients aged ≤12 years at TK2d symptom onset is reported separately (abstract 3690).
TK2d is an autosomal recessive, mitochondrial disease associated with progressive proximal myopathy. Patients typically lose the ability to walk, eat and breathe independently. Management is limited to supportive care. TK2d is ultra-rare, so disease course data in patients aged >12 years at TK2d symptom onset are limited.
Unique individuals with TK2d were identified through literature reviews of published cases (June 2019; updated 2021) and a retrospective chart review study (NCT05017818) (Integrated Summary of Efficacy [ISE]–Untreated Patients Database [UPD]). ISE-UPD data and pretreatment data (NCT03701568; NCT03845712; NCT05017818) for patients later treated with pyrimidine nucleosides (ISE-pretreatment patients) formed the comprehensive disease course dataset. Ventilatory/feeding support and developmental motor milestones were assessed. Survival analyses were performed only in the ISE-UPD to avoid introducing an immortal time bias.
Among those aged >12 years at TK2d symptom onset (N=49), 6/27 ISE-UPD patients (22.2%) died (median [95% confidence interval] time from symptom onset to death: 24.0 [16.0, not applicable] years; 22 patients censored). Ventilatory support was used by 14/27 ISE-UPD patients (51.9%; missing: n=6) and 9/22 ISE-pretreatment patients (40.9%; missing: n=5). Feeding tubes were used by 0/27 ISE-UPD patients (missing: n=15) and 4/22 ISE-pretreatment patients (18.2%; missing: n=6). One patient (ISE-UPD) discontinued ventilatory support; none discontinued feeding support. Running was the most commonly lost motor milestone (ISE-UPD: 2/11 [18.2%]; ISE-pretreatment: 7/15 [46.7%]).
Outcomes were broadly comparable between ISE-UPD and ISE-pretreatment groups, indicating substantial disease burden, often leading to ventilatory support and premature death, in patients aged >12 years at TK2d symptom onset. Further research could confirm relevant outcome measures in this patient group. UCB funded this study.
Authors/Disclosures
Michio Hirano, MD, FAAN (Columbia University Medical Center)
PRESENTER 		Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB Biopharma SRL. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Precision Biosciences. Dr. Hirano has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for UCB Biopharma SRL. Dr. Hirano has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Apollo Communication. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Envision Communications. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for 好色先生. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Cure SMA. Dr. Hirano has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Muscular Dystrophy Association. The institution of Dr. Hirano has received research support from UCB. The institution of Dr. Hirano has received research support from Cyclerion. The institution of Dr. Hirano has received research support from Astellas. The institution of Dr. Hirano has received research support from Tisento Therapeutics. The institution of Dr. Hirano has received research support from Stealth Biotherapeutics. The institution of Dr. Hirano has received research support from Abliva. Dr. Hirano has received intellectual property interests from a discovery or technology relating to health care. Dr. Hirano has received intellectual property interests from a discovery or technology relating to health care. Dr. Hirano has received personal compensation in the range of $0-$499 for serving as a Study Section Reviewer with NIH. Dr. Hirano has a non-compensated relationship as a Research Advisory Board member with Muscular Dystrophy Association that is relevant to AAN interests or activities. Dr. Hirano has a non-compensated relationship as a Scientific and Medical Advisory Board member with United Mitochondrial Disease Foundation that is relevant to AAN interests or activities. Dr. Hirano has a non-compensated relationship as a Scientific Advisory Board member with Barth Syndrome Foundation that is relevant to AAN interests or activities.
Cristina Dominguez, MD, PhD Dr. dominguez has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. dominguez has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB. The institution of Dr. dominguez has received research support from UCB.
Andres Nascimento Osorio Andres Nascimento Osorio has nothing to disclose.
Yuanjun Ma, PhD Ms. Ma has nothing to disclose.
Nada Boudiaf Mrs. Boudiaf has nothing to disclose.
Richard K. Kim, MD Dr. Kim has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for RKK Consulting, Inc..
Susan Vanmeter, MD Dr. Vanmeter has received personal compensation for serving as an employee of UCB. Dr. Vanmeter has stock in UCB.
Marcus Brunnert Mr. Brunnert has received personal compensation for serving as an employee of UCB Biosciences GmbH. Mr. Brunnert has stock in Amgen.