Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency (NCT06754098) | Clinical Trial Compass
RecruitingPhase 2
Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
Spain15 participantsStarted 2025-01-01
Plain-language summary
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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Signed informed consent by the subject.
. Subject must be greater than 18 years of age at time of consent.
. Genetic diagnosis of TK2 deficiency
. Subject should have evidence of a moderate to severe disease, with motor and or respiratory involvement, shown by one of the following:
. North Star Ambulatory Assessment Scale (NSAA) less than 30
. 6-minute walking test less than 450 meters
. Force Vital Capacity in the sitting position less than 70 percent or a drop in the decubitus position greater than 10 percent or need for mechanical ventilation.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Efficacy - Motor Function Assessments: Neurological Exam using Medical Research Council (MRC Scale) Scale for Muscle Strength
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
2
Efficacy - Motor Function Assessments: 6-minute walk test
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
3
Efficacy - Motor Function Assessments: North Star Ambulatory Assessment (NSAA)
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
4
Efficacy - Motor Function Assessments: 100 meter-time velocity test
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
5
Efficacy - Motor Function Assessments: Fatigue Scale test
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
6
Efficacy - Respiratory Assessments measured by spirometry
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
7
Efficacy - Respiratory Assessments: Use of ventilatory support (Use and Type )
. Disabling symptoms and evidence of motor and/or respiratory function progressive decline.
Exclusion criteria
. History of liver disease, or liver function test results (alanine aminotransferase \[ALT\], aspartate transaminase \[AST\], or total bilirubin) greater than or equal2 times (2X) the upper limit of normal. Patients with transaminases greater than 2 times (2X) can participate with the approval and monitoring of a doctor specializing in liver toxicity.
. Participation in a previous trial of any investigational agent for primary mitochondrial disease within 1 year prior to informed consent, or use of any other investigational therapy within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, or participation in other clinical studies, within 30 days prior to informed consent, which in the opinion of the study Sponsor, may potentially confound results from this study.
. Pregnant (females 10.0 years old or older will have a pregnancy test at screening), or breastfeeding
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
8
Efficacy - Respiratory Assessments: Time of use of ventilatory support
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24