A Phase 2 Open-Label Study of Continuation Treatment with Combination Pyrimidine Nucleosides in Patients with Thymidine Kinase 2 Deficiency (TK2)

Conditions

Thymidine kinase 2 deficiency

Brief summary

Safety, as determined by adverse events (AEs), laboratory measurements, and electrocardiograms

Detailed description

motor function assessments, respiratory status (eg, pulmonary function tests, use of ventilatory support), feeding status (eg, requirement for supplemental feeding/feeding tube), quality of life (eg, INQOL Questionnaire), characterize the health care utilization of TK2 study participants , including hospitalization, surgeries, and use of health care resources (respiratory care, nursing care, physical therapy, etc.), occurrence of respiratory infection, growth in children <18 years old (eg, growth in reference to WHO standards), Clinical Global Impression of Improvement (CGI-I) completed by Investigator and Patient Global Impression of Improvement (PGI-I) completed by the study participant /caregiver, biomarkers (plasma), including those which may be related to TK2 disease and/or drug treatment (eg, creatine kinase), Plasma concentrations at steady state to evaluate PK, Palatability will be assessed using a 5-point hedonic scale

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Interventions

DRUGdoxecitine and doxribtimine

Eligibility

Sex/Gender

All

Age

0 Years to No maximum

Design outcomes

Primary

Measure	Time frame
Safety, as determined by adverse events (AEs), laboratory measurements, and electrocardiograms	—

Secondary

Measure	Time frame
motor function assessments, respiratory status (eg, pulmonary function tests, use of ventilatory support), feeding status (eg, requirement for supplemental feeding/feeding tube), quality of life (eg, INQOL Questionnaire), characterize the health care utilization of TK2 study participants , including hospitalization, surgeries, and use of health care resources (respiratory care, nursing care, physical therapy, etc.), occurrence of respiratory infection, growth in children <18 years old (eg, growth in reference to WHO standards), Clinical Global Impression of Improvement (CGI-I) completed by Investigator and Patient Global Impression of Improvement (PGI-I) completed by the study participant /caregiver, biomarkers (plasma), including those which may be related to TK2 disease and/or drug treatment (eg, creatine kinase), Plasma concentrations at steady state to evaluate PK, Palatability will be assessed using a 5-point hedonic scale	—

Measure

Time frame

motor function assessments, respiratory status (eg, pulmonary function tests, use of ventilatory support), feeding status (eg, requirement for supplemental feeding/feeding tube), quality of life (eg, INQOL Questionnaire), characterize the health care utilization of TK2 study participants , including hospitalization, surgeries, and use of health care resources (respiratory care, nursing care, physical therapy, etc.), occurrence of respiratory infection, growth in children <18 years old (eg, growth in reference to WHO standards), Clinical Global Impression of Improvement (CGI-I) completed by Investigator and Patient Global Impression of Improvement (PGI-I) completed by the study participant /caregiver, biomarkers (plasma), including those which may be related to TK2 disease and/or drug treatment (eg, creatine kinase), Plasma concentrations at steady state to evaluate PK, Palatability will be assessed using a 5-point hedonic scale

—

Countries

Spain

Outcome results

None listed