Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.
Cristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido...
https://pubmed.ncbi.nlm.nih.gov/32572108Actively Recruiting
Phase 2
Age: 18Years +
All Genders
ID06754098
An Open Label Study to Evaluate the Safety and Effectiveness of Doxecitin and Doxribthymine in Adults With Thymidine Kinase 2 (TK2) Deficiency
Led by Cristina Domínguez González · Updated on 2025-07-28
15
Participants Needed
1
Research Sites
47 weeks
Total Duration
On this page
Sponsors
C
Cristina Domínguez González
Lead Sponsor
U
UCB Pharma
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are evaluating the safety and effectiveness of the combination of doxecitin and doxribthymine (dT+dC) in adults diagnosed with thymidine kinase 2 (TK2) deficiency, a rare mitochondrial disorder that causes progressive muscle weakness. This open-label, single-center study focuses on adult patients with moderate to severe symptoms and respiratory involvement, aiming to better understand how this treatment impacts muscle and respiratory function as well as mitochondrial DNA levels. Participants will receive the study drugs orally in three daily doses spaced about 6 to 8 hours apart. The starting dose is 130 mg/kg/day for each drug, divided equally. Depending on tolerance, doses may increase every two weeks up to a maximum of 400 mg/kg/day per drug. The study involves a single treatment group where all participants receive this dosing regimen. The total study duration for each participant is approximately 24 months, with expectations to observe results within the first 6 to 12 months. Throughout the study, participants will undergo regular evaluations including muscle strength tests, walking assessments, respiratory function tests, and fatigue scales at multiple time points from day 1 through 24 months. Researchers will also monitor blood markers and adverse events to assess safety. Participants are expected to comply with all study procedures, visits, and medication schedules during the study period.
CONDITIONS
Brief Title
Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
Who Can Participate
Age: 18Years +
All Genders
Eligibility Criteria
You may qualify if you...
- Signed informed consent by the subject.
- Age greater than 18 years at time of consent.
- Genetic diagnosis of thymidine kinase 2 (TK2) deficiency.
- Evidence of moderate to severe disease with motor and/or respiratory involvement shown by one of the following: NSAA score less than 30, 6-minute walk test less than 450 meters, sitting Force Vital Capacity less than 70%, or a drop greater than 10% in decubitus position or need for mechanical ventilation.
- Disabling symptoms and evidence of progressive decline in motor and/or respiratory function.
- Female participants of childbearing potential must agree to use highly effective birth control during the study and for 30 days after.
- Male participants with partners of childbearing potential must use effective contraception during the study and for 90 days after last dose.
- Willingness to comply with study procedures, visits, and medication schedule.
You will not qualify if you...
- History of liver disease or liver function tests (ALT, AST, or total bilirubin) greater than or equal to twice the upper limit of normal, unless approved and monitored by a liver specialist.
- Participation in another investigational trial for mitochondrial disease within 1 year prior to consent or use of any investigational therapy within 30 days prior to consent.
- Participation in other clinical studies within 30 days prior to consent that may affect study results.
- Pregnant or breastfeeding females.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Treatment
Duration - Up to 24 months
Participants receive daily oral doses of doxecitine and doxribtimine, starting at a lower dose and increasing if tolerability is good. The treatment aims to assess safety and effectiveness in adults with TK2 deficiency.
Visits on Day 1, and Months 1, 2, 3, 12, 15, 18, 21, and 24
Trial Site Locations
Total: 1 location
1
Hospital Universitario 12 de Octubre
Madrid, Spain, 28041
Actively Recruiting
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Research Team
C
Cristina Domínguez González, Dra.
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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Published Research Related To This Trial
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Andres Berardo, Cristina Domínguez-González, Kristin Engelstad...
https://pubmed.ncbi.nlm.nih.gov/35094997Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.
Laura Bermejo-Guerrero, Ana Hernández-Voth, Pablo Serrano-Lorenzo...
https://pubmed.ncbi.nlm.nih.gov/38599303Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Cristina Domínguez-González, Marcos Madruga-Garrido, Fabiola Mavillard...
https://pubmed.ncbi.nlm.nih.gov/31125140