Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency
Trial statusRecruiting
Trial phasePhase 2
Trial typeInterventional
Biological sexAll
Age18+
SponsorCristina Domínguez González
About this trial
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.
Eligibility criteria
Qualifiers
Signed informed consent by the subject.
Subject must be greater than 18 years of age at time of consent.
Genetic diagnosis of TK2 deficiency
North Star Ambulatory Assessment Scale (NSAA) less than 30
Disqualifiers
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
Trial design
Treatments tested in this trial
- Doxecitine and Doxribtimine
Treatment groups
15 Participants
are divided into 1 treatment groupSponsors and collaborators
Cristina Domínguez González
Lead sponsor
Hospital Universitario 12 de Octubre
Sponsor institution
UCB Pharma
Collaborator
Source ClinicalTrials.gov