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Doxribtimine

Doxribtimine, often used in combination with doxecitine, is being studied in clinical trials as a potential treatment for Thymidine Kinase 2 (TK2) Deficiency, a rare genetic disorder affecting mitochondrial function. These trials aim to evaluate the safety and efficacy of the drug in patients with this condition, focusing on improvements in motor function, respiratory status, and overall quality of life.

Table of Contents

What is Doxribtimine?

Doxribtimine is a medication that is being studied for the treatment of a rare genetic disorder. It is often used in combination with another drug called doxecitine. Together, these drugs are referred to as “doxecitine and doxribtimine” or by their alternative names “MT1621” and “GMP grade dC/dT (deoxycytidine and deoxythymidine)”[2]. This combination is being investigated as a potential treatment for patients with a specific genetic condition.

Medical Condition Treated

Doxribtimine is being studied to treat a condition called Thymidine Kinase 2 Deficiency (TK2d)[1]. This is a rare genetic disorder that affects the body’s ability to produce energy in cells, particularly in muscles. People with TK2d may experience muscle weakness, difficulty breathing, and problems with growth and development. The condition can affect both children and adults, but it’s particularly severe when symptoms begin in early childhood[1].

How Doxribtimine Works

While the exact mechanism isn’t fully explained in the provided information, doxribtimine and doxecitine are described as “pyrimidine nucleosides”[2]. In simple terms, these are building blocks that cells need to make and repair DNA. In patients with TK2d, there’s a problem with how the body uses these building blocks. By providing doxribtimine and doxecitine, the treatment aims to help overcome this deficiency and improve cellular function, particularly in muscles.

How Doxribtimine is Administered

Doxribtimine is typically given in combination with doxecitine. The medication is administered in the following way:

  • It is taken orally (by mouth) or via a feeding tube[1].
  • The dose is usually divided into three equal parts, taken approximately 6 to 8 hours apart[2].
  • It should be taken with food[2].
  • The dosage is calculated based on the patient’s weight, with a maximum dose of 800 mg/kg/day (400 mg/kg/day each of doxecitine and doxribtimine)[2].

Current Clinical Trials

Doxribtimine is currently being studied in clinical trials to better understand its effectiveness and safety. Two notable studies are:

  1. An Expanded Access Program (EAP) which allows patients to access the treatment before it’s commercially available[1].
  2. A Phase 2 open-label study looking at the long-term safety and effectiveness of the treatment in patients who have previously received it[2].

Safety and Efficacy

The ongoing clinical trials are closely monitoring the safety and effectiveness of doxribtimine. Key aspects being studied include:

  • Safety: Researchers are tracking any side effects (adverse events) that patients experience, how severe they are, and how often they occur[2].
  • Laboratory Tests: Regular blood tests and other laboratory measurements are being conducted to monitor patients’ health[2].
  • Heart Health: Electrocardiograms (ECGs) are being used to check for any effects on heart function[2].
  • Effectiveness: The studies are looking at improvements in motor function (ability to move), breathing capacity, and growth/nutrition[2].

Impact on Quality of Life

An important aspect of the research is understanding how doxribtimine affects patients’ overall quality of life. This is being assessed through:

  • Questionnaires that ask patients about their muscle function, pain levels, fatigue, and ability to perform daily activities[2].
  • Tracking of healthcare utilization, which can indicate improvements in overall health[2].
  • Both doctors’ and patients’ impressions of improvement, to get a well-rounded view of the treatment’s effects[2].
Aspect Details
Drug Name Doxribtimine (often used in combination with Doxecitine)
Target Condition Thymidine Kinase 2 (TK2) Deficiency
Administration Oral or via feeding tube, typically in 3 equal doses daily
Dosage Up to 400 mg/kg/day of each nucleoside (Doxribtimine and Doxecitine)
Primary Outcomes Motor function, respiratory status, adverse events, biomarkers
Secondary Outcomes Quality of life, pharmacokinetics, healthcare utilization
Trial Duration Approximately 2-3 years
Key Assessments MRC Scale, 6-minute walk test, spirometry, mtDNA levels

FAQ

  • What is Doxribtimine and how is it used in clinical trials? Doxribtimine is a pyrimidine nucleoside used in combination with doxecitine to treat Thymidine Kinase 2 (TK2) Deficiency. In clinical trials, it is administered orally or via feeding tube, usually in three equal doses throughout the day.
  • What condition is being targeted in these clinical trials? The clinical trials are primarily focusing on Thymidine Kinase 2 (TK2) Deficiency, a rare genetic disorder that affects mitochondrial function and can cause progressive muscle weakness and respiratory problems.
  • How is the effectiveness of Doxribtimine being measured in these trials? The effectiveness is being measured through various assessments, including motor function tests (like the 6-minute walk test and muscle strength scales), respiratory function tests, quality of life questionnaires, and biomarker analysis in blood and muscle tissue.
  • What are the potential side effects being monitored in these trials? The trials are closely monitoring for any adverse events (AEs) and serious adverse events (SAEs). Specific attention is given to changes in laboratory tests, electrocardiograms (ECGs), and the occurrence of side effects like diarrhea.
  • How long do these clinical trials typically last? The duration of these trials varies, but many last for approximately 2-3 years. This extended period allows researchers to assess both short-term and long-term effects of the treatment.

Ongoing Clinical Trials on Doxribtimine

  • Study of doxecitine and doxribtimine oral solution for adult patients with Thymidine Kinase 2 (TK2) Deficiency

    Recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Spain

  • Study of Doxecitine and Doxribtimine Oral Solution for Treatment of Patients with Thymidine Kinase 2 (TK2) Deficiency Who Have Previously Received Treatment

    Not recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Spain

Glossary

  • Thymidine Kinase 2 (TK2) Deficiency: A rare genetic disorder that affects mitochondrial function, leading to progressive muscle weakness and often respiratory problems.
  • Doxribtimine: A pyrimidine nucleoside used in combination with doxecitine to treat TK2 Deficiency in clinical trials.
  • Expanded Access Program (EAP): A program that allows patients with serious or life-threatening conditions to access investigational drugs outside of clinical trials.
  • Mitochondrial DNA Depletion and Multiple Deletions Syndromes (MDDS): A group of rare genetic disorders, including TK2 Deficiency, that affect mitochondrial function and DNA.
  • 6-minute walk test (6MWT): A test that measures the distance an individual can walk in 6 minutes, used to assess functional capacity and endurance.
  • Forced Vital Capacity (FVC): A measure of lung function that represents the total amount of air exhaled forcefully after taking a deep breath.
  • Maximal Inspiratory Pressure (MIP): A measure of respiratory muscle strength, specifically the strength of the muscles used for inhalation.
  • Maximal Expiratory Pressure (MEP): A measure of respiratory muscle strength, specifically the strength of the muscles used for exhalation.
  • Biomarkers: Measurable indicators in the body that can be used to assess the presence or progress of a disease or the effects of treatment.
  • Mitochondrial DNA (mtDNA): The genetic material found in mitochondria, the energy-producing structures in cells.

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