Thymidine kinase 2 deficiency
Conditions
Interventions
Product Name: deoxycytidine and deoxythymidine
Product Code: MT1621
Pharmaceutical Form: Powder for oral solution
INN or Proposed INN: MT1621
Current Sponsor code: MT1621
Other descriptive name: deoxy
Sponsors
Modis Therapeutics, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Signed informed consent by the parent(s) or legally authorized representative (LAR) and/or assent by the patient (when applicable). 2. Confirmed genetic mutation in the TK2 gene. 3. Absence of other genetic disease or polygenic disease. 4. Current treatment with nucleos(t)ides for TK2 deficiency. Patients who were not previously enrolled in MT 1621 101 will require Sponsor approval to ensure that collection of clinical and functional measurements prior to treatment are sufficient to serve as baseline assessments for purposes of evaluating safety and efficacy. 5. Female patients must not be breastfeeding, have a negative pregnancy test at screening (females =10 years old), and have no intention to become pregnant during the course of the study. Female patients who are of childbearing potential (ie, following menarche until =1 year post-menopausal if not anatomically and physiologically incapable of becoming pregnant) must agree and commit to the use of highly effective methods of birth control for the duration of the study and for 30 days after the end of the study. Acceptable methods are defined as those that result, alone or in combination, in a low failure rate (ie, =65 years) yes F.1.3.1 Number of subjects for this age range 1
Exclusion criteria
Exclusion criteria: 1. History of liver disease, or liver function test results (ALT, AST, or total bilirubin) =2× upper limit of normal without prior Sponsor approval. 2. Other significant medical condition that, in the opinion of the Investigator or Study Sponsor, may confound interpretation of the clinical course of TK2 deficiency.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: To characterize the safety profile of continuing treatment with dC/dT (combination pyrimidine nucleosides, administered as MT1621) in patients with thymidine kinase 2 (TK2) deficiency previously treated with dC/dT and/or dCMP/dTMP;Secondary Objective: • To determine the continued efficacy of dC/dT (administered as MT1621) in patients with TK2 deficiency compared with data recorded for these patients prior to treatment with pyrimidine nucleos(t)ides • To determine the effects of pyrimidine nucleos(t)ides on clinical parameters associated with TK2 deficiency • To determine the pharmacokinetics (PK) of MT1621 using sparse sampling methodology • To explore the effects of disease and/or MT1621 on proposed disease and/or treatment-related biomarkers • To characterize the quality of life of patients with TK2 deficiency • To characterize the health care utilization of patients with TK2 deficiency;Primary end point(s): Safety, as determined by adverse events (AE), laboratory measurements, and electrocardiograms;Timepoint(s) of evaluation of this end point: See Schedule of Assessments | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): • Efficacy endpoints may include the following: - motor function assessments (eg, achievement of gross motor milestones such as ability to sit upright, walk, climb stairs; 6-minute walk test; CHOP INTEND; Egen Klassifikation; North Star Ambulatory Assessment; Hammersmith Functional Motor Scale-Expanded; Patient-Reported Outcomes Measurement Information System) - respiratory status (eg, pulmonary function tests, use of ventilatory support, occurrence of respiratory infection) - growth/nutrition (eg, growth in reference to WHO standards, requirement for supplemental feeding/feeding tube) • PK of dC/dT (Cmax, Tmax, AUC, t1/2) • Biomarkers (plasma), including those which may be related to TK2 disease and/or drug treatment (eg, creatine kinase) • Quality of life (eg, INQOL Questionnaire) • Characterize the health care utilization of TK2 patients, including hospitalization, surgeries, and use of health care resources (respiratory care, nursing care, physical therapy, etc.);Timepoint(s) of evaluation of this end point: See Schedule of Assessments | — |
Countries
Israel, Spain, United States
Contacts
Public ContactClinical Study Team
Modis Therapeutics, Inc.
Outcome results
None listed