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 range18 Years
SexALL
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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.
✓. 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.
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 )
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24
✕. 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
Efficacy - Respiratory Assessments: Time of use of ventilatory support
Timeframe: Day 1, Months 1, 2, 3, 12, 15, 18, 21 and 24