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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
Child Neurology and Developmental Neurology
P10 - Poster Session 10 (5:00 PM-6:00 PM)
6-007

To characterize the disease course of untreated patients with thymidine kinase 2 deficiency (TK2d) aged ≤12 years at TK2d symptom onset. Disease course of patients aged >12 years at TK2d symptom onset is reported separately (abstract 2629).

TK2d is an ultra-rare, autosomal recessive, mitochondrial disease associated with progressive proximal myopathy. Management is limited to supportive care. Patients aged ≤12 years at TK2d symptom onset experience rapid disease progression, generalized weakness and many die prematurely.

Data from unique individuals with TK2d identified through literature reviews of published cases (June 2019; updated 2021) and a retrospective chart review study (NCT05017818) comprised the Integrated Summary of Efficacy–Untreated Patients Database (ISE-UPD). The ISE-UPD data and pretreatment data (NCT03701568; NCT03845712; NCT05017818) of patients later treated with pyrimidine nucleosides (ISE-pretreatment patients) formed the comprehensive disease course dataset. Survival analyses were performed only in the ISE-UPD to avoid introducing immortal time bias. Developmental motor milestones and ventilatory/feeding support were assessed.

Among those aged ≤12 years at TK2d symptom onset (N=199), 66/117 ISE-UPD patients (56.4%) died  (median [95% confidence interval] time from symptom onset to death: 2.6 (1.3, 6.4) years; 51 patients censored).  Most patients lost ≥1 motor milestone (ISE-UPD: 20/26 [76.9%], missing/not-at-risk: n=91; ISE-pretreatment: 41/49 [83.7%], missing/not-at-risk: n=33). Ventilatory support was used by 50/117 ISE-UPD patients (42.7%; missing: n=44) and 31/82 ISE-pretreatment patients (37.8%; missing: n=29). Feeding tubes were used by 8/117 ISE-UPD patients (6.8%; missing: n=91) and 20/82 ISE-pretreatment patients (24.4%; missing: n=30).

Patients aged ≤12 years at TK2d symptom onset  face a high risk of premature death, often occurring within 3 years after symptom onset. Functional outcomes (motor function loss and ventilatory/feeding support use) were comparable between ISE-UPD and ISE-pretreatment groups, highlighting the heavy, progressive burden in patients aged ≤12 years at TK2d symptom onset. 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.
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.
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.