doxribtimine; doxecitine for Thymidine kinase 2 deficiency | Mitochondrial DNA depletion

Inclusion criteria

• {"criterion_text":"- Signed informed consent by the parent(s) or legally authorized representative (LAR) and/or assent by the study participant (when applicable).\n- Confirmed genetic mutation(s) in the TK2 gene.\n- Absence of other genetic disease or polygenic disease.\n- Current treatment with nucleos(t)ides for TK2 deficiency. Study participants 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 for evaluating safety and efficacy.\n- Female study participants must not be breastfeeding, must 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 study participants who are of childbearing potential (ie, following menarche until ≥1 year postmenopausal 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, <1% per year) when used consistently and correctly, such as surgical sterilization, an intrauterine device, or hormonal contraception in combination with a barrier method. In certain countries (if permitted by law), women of childbearing potential may instead agree to abide by heterosexual sexual abstinence during the study and for 30 days after the end of the study.\n- Male study participants with sexual partners should use condoms for the duration of the study and for 30 days after the last dose of study drug to prevent passing study drug to the partner in the ejaculate. Male participants should be advised not to donate sperm for 30 days after the last dose of study drug.\n- Willingness to maintain current treatment regimen and current exercise regimen for the duration of the clinical study.\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 (ALT, AST, or total bilirubin) ≥2× upper limit of normal without prior Sponsor approval.\n- Other significant medical condition that, in the opinion of the Investigator or Study Sponsor, may confound interpretation of the clinical course of TK2 deficiency."}

Primary endpoints

• {"endpoint_text":"- Incidence of treatment-emergent adverse events (TEAEs)\n- Incidence of TEAEs leading to study drug withdrawal","definition_or_measurement_approach":""}

Secondary endpoints

• {"endpoint_text":"- Clinical Global Impression of Improvement (CGI-I) Response score\n- Mean minimum plasma concentration (Cmin) of deoxycytidine (dC) and deoxythymidine (dT) at steady state\n- Mean maximum plasma concentration (Cmax) of dC and dT at steady state\n- Mean area under the plasma concentration - time curve from time 0 to 24 hours (AUC0-24) of dC and dT at steady state","definition_or_measurement_approach":"CGI-I: Clinical global impression scoring. PK endpoints (Cmin, Cmax, AUC0-24): plasma concentration measurements at steady state; PK to be evaluated using sparse sampling methodology as stated in protocol."}

Spain

Earliest CTIS Part Ii Submission Date

19-04-2024

Latest Decision Or Authorization Date

28-04-2026

Processing Time Days

739

Number Of Sites

4

Number Of Participants

23

Primary sponsor

Full Name

UCB Biosciences Inc.

Organisation Type

Pharmaceutical company

Country Of Registered Address

United States

Contract research organisations

Name

Syneos Health Inc.

Responsibilities

code 4

Name

Gray Consulting Inc.

Responsibilities

Patient Services (Tavel; Patient Reimbursment)

Name

RWS Life Sciences Inc.

Responsibilities

Scales & Linguistic validation services

Name

Eresearchtechnology Inc.

Responsibilities

ECG Central Review

Name

Myriad RBM Inc.

Responsibilities

code 4

Name

Cerba Research

Responsibilities

code 4

Third parties

• {"country":"Belgium","full_name":"Cerba Research","duties_or_roles":"code 4","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"United States","full_name":"Syneos Health Inc.","duties_or_roles":"code 4","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Gray Consulting Inc.","duties_or_roles":"Patient Services (Tavel; Patient Reimbursment)","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"RWS Life Sciences Inc.","duties_or_roles":"Scales & Linguistic validation services","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Preventiongenetics LLC","duties_or_roles":"Genetic Testing","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"United States","full_name":"Eresearchtechnology Inc.","duties_or_roles":"ECG Central Review","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Myriad RBM Inc.","duties_or_roles":"code 4","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"United States","full_name":"Center For Information And Study On Clinical Research Participation Inc.","duties_or_roles":"code 11","organisation_type":"Patient organisation/association"}