DOXRIBTIMINE; DOXECITINE for Thymidine kinase 2 deficiency | Mitochondrial myopathy

Inclusion criteria

• {"criterion_text":"- Signed informed consent by the subject.\n- Subject must be greater than 18 years of age at time of consent.\n- Genetic diagnosis of TK2 deficiency\n- Subject should have evidence of a moderate to severe disease, with motor and or respiratory involvement, shown by one of the following: a. North Star Ambulatory Assessment Scale (NSAA) < 30 b. 6-minute walking test < 450 meters c. Force Vital Capacity in the sitting position < 70% or a drop in the decubitus position > 10% or need for mechanical ventilation. d. Disabling symptoms and evidence of motor and/or respiratory function progressive decline\n- Female subjects must have no intention to become pregnant during the study. Female subjects 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, and be willing to have additional pregnancy tests conducted during the study. Acceptable methods are defined as those that result, alone or in combination, in a low failure rate (ie, <1% per year) when used consistently and correctly, such as surgical sterilization, an intrauterine device, or hormonal contraception in combination with a barrier method.\n- Male subjects with partners of childbearing potential must agree to use effective contraception methods during the study and for at least 90 days after the last dose of the study medication. Acceptable methods include the use of condoms combined with spermicidal foam/gel/film/cream/suppository\n- Willingness to comply with the study protocol, including but not limited to, all study procedures, study visits, and study drug compliance."}

Exclusion criteria

• {"criterion_text":"- History of liver disease, or liver function test results (alanine aminotransferase [ALT], aspartate transaminase [AST], or total bilirubin) ≥ 2X ~ upper limit of normal. Patients with transaminases > 2X can participate with the approval and monitoring of a doctor specializing in liver toxicity.\n- 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.\n- Pregnant (females ≥10.0 years old will have a pregnancy test at screening), or breastfeeding."}

Primary endpoints

• {"endpoint_text":"- To evaluate the efficacy of dT+dC in adults with TK2d.","definition_or_measurement_approach":""}

Secondary endpoints

• {"endpoint_text":"- To evaluate the safety of dT+dC in adults with TK2d.","definition_or_measurement_approach":""}

Spain

Earliest CTIS Part Ii Submission Date

21-05-2024

Latest Decision Or Authorization Date

04-06-2025

Processing Time Days

379

Number Of Sites

1

Number Of Participants

15

Primary sponsor

Full Name

Hospital Universitario 12 De Octubre

Organisation Type

Hospital/Clinic/Other health care facility

Country Of Registered Address

Spain

Contract research organisations

Name

Start From Scracth S.L.

Responsibilities

sponsorDuties codes: 1, 12, 5, 6, 8; contact: jarenas@sfscro.com, +34627513359

Third parties

• {"country":"Spain","full_name":"Start From Scracth S.L.","duties_or_roles":"sponsorDuties codes: 1, 12, 5, 6, 8","organisation_type":"Industry"}