European Commission Approves Doxecitine and Doxribtimine as First Therapy for TK2d The European Commission has approved doxecitine and doxribtimine, the first therapy for pediatric and adult patients with TK2d.

The @ec.europa.eu has granted marketing authorization to #Doxecitine and #Doxribtimine (#Kygevvi®) under exceptional circumstances for the treatment of thymidine kinase 2 deficiency (#TK2d), pharmaceutical company UCB announced.

Read more: https://bit.ly/4tGA4uL

#RareDisease #MedSky

DCTPP1 May Be Promising Target for MNGIE, mtDNA Depletion Syndrome Similar to TK2d DCTPP1 modulates dNTP pool balance, which is disrupted in TK2d and related syndromes, and shows promise as a therapeutic target in MNGIE.

Findings of a recent study published in Cell Death & Disease suggest deoxycytidine triphosphate pyrophosphatase 1 (#DCTPP1) is a key regulator of mitochondrial nucleotide homeostasis.

Read more: https://bit.ly/3Q9yQt8

#RareDisease #TK2d #MedSky

In Vitro Assays Fail to Detect mtDNA Depletion for Pathogenic Variants Found in TK2d Patients Researchers developed an in vitro assay for TK2 variants, but mtDNA depletion was minimal, highlighting challenges in modeling TK2d.

#ACMGMtg26: Researchers noted that TK1 may partially compensate for #TK2 deficiency in vitro, although its contribution to #mtDNA maintenance in this system remains unclear. @theacmg.bsky.social

Read more: https://bit.ly/4t0VcLP

#RareDisease #TK2d #MedSky

Analysis Estimates Global TK2d Prevalence, Identifying Population-Specific Differences TK2d is an ultrarare but measurable genetic disease worldwide, with an estimated prevalence of up to 2.82 per million pregnancies.

#MDAConference: Thymidine kinase 2 deficiency (#TK2d) is an ultrarare but measurable genetic disease worldwide, according to estimates set to be presented at the 2026 @mda.org Clinical and Scientific Conference.

Read more: https://bit.ly/4riZuNa

#RareDisease #MedSky

UCB is a Diamond Partner at #Euromit2026 💎

We look forward to discussing the latest advancements in thymidine kinase 2 deficiency (TK2d) with the mitochondrial community and sharing our commitment to optimize TK2d management.

Meet us at Euromit2026! 🤝

#mitochondrialdisease #TK2d #raredisease #UCB

UCB、TK2欠損症治療薬KYGEVVIがEMA CHMPで承認推奨──例外的状況下でEU販売承認へ前進 | STELLANEWS.LIFE STELLANEWS.LIFE（ステラニュース・ライフ）は、科学や技術、医薬品分野における最新の研究成果や発見 | STELLANEWS.LIFE（ステラニュース・ライフ）は、科学や技術、医薬品分野における最新の研究成果や発見

UCB、TK2欠損症治療薬KYGEVVIがEMA CHMPで承認推奨──例外的状況下でEU販売承認へ前進
KYGEVVI (doxecitine/doxribtimine) recommended for approval in the European Union for thymidine kinase 2 deficiency (TK2d)

stellanews.life/technology/8...

#TK2d #RareDisease #EMA #CHMP #UCB #ExceptionalCircumstances

Reduced Mitochondrial TK2 Linked to Neuroinflammation and Seizures Reduced TK2 drives neuroinflammation and seizure susceptibility, offering a plausible mechanistic explanation for CNS symptoms in TK2d.

A study demonstrated links between reduced mitochondrial #TK2 expression and both #Neuroinflammation and #Seizure susceptibility. The findings potentially provide a biological basis for CNS involvement in #TK2d

Learn more: https://bit.ly/4rG4Gvh

#InternationalEpilepsyDay #RareDiseaseMonth

Signaling Cascade Triggered by Circulating mtDNA May Contribute to Inflammation in TK2d Primary mitochondrial diseases such as TK2d may involve not just energy failure, but also mtDNA-triggered immune activation.

Primary mitochondrial diseases (#PMDs), including thymidine kinase 2 deficiency (#TK2d), may be driven not only by bioenergetic failure but also by activation of innate immunity triggered by mitochondrial DNA release (#mtDNA).

Read here: https://bit.ly/4qlWwao

#RareDisease #MedSky

Study Finds Link Between Deoxyguanosine Kinase Deficiency and Immune Activation in Liver Research shows DGUOK deficiency, a mitochondrial disorder like TK2d, reprograms hepatocellular metabolism and triggers innate immune signaling in the liver.

#DGUOK, a mitochondrial disorder similar to #TK2d, reprograms hepatocellular metabolism and triggers innate immune signaling through a purine-dependent mechanism, leading to metabolic and immunological changes. Study in @biorxivpreprint.bsky.social

Read more: https://bit.ly/3MwjLjG

Case Report: Novel Homozygous POLG Mutation A case report describes a novel homozygous POLG mutation, an important differential diagnosis for thymidine kinase 2 deficiency (TK2d).

A case involving a patient with a novel homozygous #POLG mutation, an important differential diagnosis for thymidine kinase 2 deficiency (#TK2d). Published in Acta Neurologica Belgica.

Read more: https://bit.ly/47V8qkp

#RareDisease #ThymidineKinase2Deficiency #MedSky #Neurology

FBXL4-MTDPS Linked to Increased Infection Risk FBXL4-MTDPS, an important differential diagnosis for TK2d, appears to predispose patients to severe infections.

#FBXL4-related mitochondrial DNA depletion syndrome (#FBXL4MTDPS), an important differential diagnosis to consider when evaluating suspected thymidine kinase 2 deficiency (#TK2d), appears to predispose patients to severe infections.

Read more: https://bit.ly/43jsgUT

#RareDisease #MedSky

FDA approves 1st drug for thymidine kinase 2 deficiency FDA approves 1st drug for thymidine kinase 2 deficiency, a very rare mitochondrial disease

💊FDA Approval Update | #Kygevvi (#doxecitine and #doxribtimine), the first approved drug for #TK2d
🔸To treat thymidine kinase 2 deficiency (TK2d), a rare #mitochondrial disease
🔸People experienced symptoms from 12 years old or younger
🌟Read more: www.fda.gov/drugs/news-e...

FDA Approves First-Ever Treatment for TK2d The combination therapy doxecitine and doxribtimine (Kygevvi®) has been approved by the US Food and Drug Administration (FDA) as the first and only

The combination therapy #Doxecitine and #Doxribtimine (#Kygevvi®) has been approved by the US Food and Drug Administration (FDA) as the first and only treatment for thymidine kinase 2 deficiency (#TK2d), UCB announced.

Learn more ➡️: https://bit.ly/4nGTlZe

#RareDisease #MedSky #RareSky

FDA Approves KYGEVVI®: A Hopeful Breakthrough for TK2 Deficiency Patients The FDA has approved KYGEVVI®, the first treatment for thymidine kinase 2 deficiency (TK2d), providing hope for affected families after years without options.

FDA Approves KYGEVVI®: A Hopeful Breakthrough for TK2 Deficiency Patients #United_States #Atlanta #UCB #TK2d #KYGEVVI®

#ASHG2025: Sarah Chang, PhD, US medical strategy lead for UCB. Dr. Chang spoke Oct. 17 at @geneticssociety.bsky.social 2025 about thymidine kinase-2 deficiency (#TK2d), a rare mitochondrial disease.

#RareDisease #MedSky #RareSky

#MitoAwarenessWeek highlights mitochondrial diseases like #TK2d. Delays in diagnosis due to limited knowledge & similarities with other myopathies can impact outcomes for the TK2d community. UCB is committed to increasing education for accurate diagnoses. More about TK2d: www.ucb.com/solutions/di...

🎙️Rare Care: The Rare Disease Advisor Podcast

Larry Luxner, interviews neurologist Michio Hirano, MD, of @columbiauniversity.bsky.social about an investigative therapy that shows promise in treating #TK2d, an #UltrarareDisease

🎧 Listen to the full podcast here: https://bit.ly/4pfywX7

#RareDisease

It's #TK2dTuesday! #TK2d affects 1.64 per 1 million globally, with varied onset and severity. UCB is committed to elevating understanding of the disease through collaboration with the community.

Stay up to date with the latest insights on #TK2d diagnosis from #EPNS2025, from clinical signs and symptoms to key differential biomarkers. Watch now to earn #CME credit, free and on demand #MedSky

ow.ly/8HOF50WNzRv

Thymidine Kinase 2 Deficiency (TK2d) Experience Survey

Are you a healthcare professional working with a #TK2d patient?

Or are you or a loved one affected by this rare form of #mitochondrialdisease?

Please help shape access to a potential new #treatment by sharing or completing our short survey by 17th Aug.

freeonlinesurveys.com/s/BP8zdKCm

Thank you

Don’t miss the chance to hear key discussions on #TK2d from our independent symposium at #EPNS2025. Register now for this upcoming opportunity to earn #CME credit and hear expert guidance on TK2d diagnosis and management, free and on demand #MedSky #MedEd

ow.ly/gyHE50WksVJ

MHRA grants Promising Innovative Medicine designation to UCB’s DoxTM for TK2d - PharmaTimes UCB’s developmental treatment may be eligible for patient access

#rarediseases #MHRA #UK #PIMdesignation #UCB #DoxTM #TK2d #ThymidineKinase2Deficiency #TK2Deficiency #patientaccess #TK2geneticmutation #mitochondrialDNAdepletion #EarlyAccesstoMedicines #EAMS #MitochondrialMedicine #Mitochondrialdiseases
pharmatimes.com/news/mhra-gr...

New Investigational Therapy for Thymidine Kinase 2 Deficiency Shows Promise at MDA 2025 Conference UCB has presented compelling data at the MDA 2025 Conference, showing the potential life-saving benefits of their new treatment for thymidine kinase 2 deficiency.

New Investigational Therapy for Thymidine Kinase 2 Deficiency Shows Promise at MDA 2025 Conference #UCB #Brussels #Belgium #Thymidine_Kinase #TK2d

Descubren variantes genéticas que explican la alta incidencia en España del déficit de tirosina quinasa 2 (TK2d) Un estudio reciente ha arrojado luz sobre la razón por la cual España presenta una alta incidencia del déficit de tirosina quinasa 2 (TK2d), una enfermedad ultrarrara que afecta a una persona por cada...

Descubren variantes genéticas que explican la alta incidencia en España del déficit de tirosina quinasa 2 (TK2d) killbait.com/es/descubren... #ciencia #enfermedadesraras #genética #tk2d