Actively Recruiting
Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
Led by Cristina Domínguez González · Updated on 2025-07-28
15
Participants Needed
1
Research Sites
156 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
The purpose of this clinical trial is to evaluate the efficacy and safety of Doxecitin and Doxribtimine (dC+dT) in adult participants with thymidine kinase 2 (TK2) deficiency attended in the Neuromuscular Unit of '12 de Octubre' Hospital. The main questions it aims to answer are: * Is dT+dC effective in the treatment of the adult participants with TK2 deficiency? * Is dT+dC safe in the treatment of adult participants with TK2 deficiency? Researchers will evaluate the effectiveness of the treatment doxecitin and doxribthymine in adult participants with TK2 deficiency. In addition, the mitochondrial DNA levels before and after treatment (extracted from the muscle and from uroepithelial cells) of these participants will be also studied.
CONDITIONS
Official Title
Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed informed consent.
- Age greater than 18 years at time of consent.
- Genetic diagnosis of TK2 deficiency.
- Moderate to severe disease with motor and/or respiratory involvement, shown by:
- North Star Ambulatory Assessment Scale less than 30, or
- 6-minute walking test less than 450 meters, or
- Forced Vital Capacity less than 70% sitting or drop greater than 10% lying down or need for mechanical ventilation.
- Disabling symptoms and evidence of progressive decline in motor and/or respiratory function.
- Female participants must agree to use highly effective birth control during the study and for 30 days after.
- Male participants with partners of childbearing potential must agree to use effective contraception during the study and for 90 days after last dose.
- Willingness to comply with study procedures, visits, and medication adherence.
You will not qualify if you...
- History of liver disease or liver tests (ALT, AST, bilirubin) two times or more above normal unless monitored by a liver specialist.
- Participation in another investigational trial for mitochondrial disease within one year before consent or use of investigational therapy within 30 days before consent.
- Pregnant or breastfeeding females.
AI-Screening
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Trial Site Locations
Total: 1 location
1
Hospital Universitario 12 de Octubre
Madrid, Spain, 28041
Actively Recruiting
Research Team
C
Cristina Domínguez González, Dra.
CONTACT
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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