#1 Clinical Trials Search in Europe

Doxecitine

Doxecitine, often used in combination with doxribtimine, is being studied in clinical trials as a potential treatment for Thymidine Kinase 2 (TK2) Deficiency, a rare mitochondrial disorder. 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 Doxecitine?

Doxecitine 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 doxribtimine. Together, these drugs are referred to as “doxecitine and doxribtimine” or sometimes by their alternative names “deoxycytidine and deoxythymidine” or “GMP grade dC/dT”[2]. In some clinical trials, this combination is also known as MT1621[2].

What Medical Condition Does Doxecitine Treat?

Doxecitine is being developed to treat a condition called Thymidine Kinase 2 Deficiency (TK2d)[1][2]. This is a rare genetic disorder that affects the body’s ability to produce energy in cells, particularly in muscles. People with TK2d often experience muscle weakness, difficulty breathing, and problems with growth and development.

How is Doxecitine Administered?

Doxecitine is typically given in combination with doxribtimine. The medication is administered orally (by mouth) or via a feeding tube[1]. In clinical trials, it is usually given in three equal doses throughout the day, approximately 6 to 8 hours apart, and should be taken with food[2]. The exact dosage may vary, but in some studies, patients receive up to 800 mg/kg/day (400 mg/kg/day of doxecitine and 400 mg/kg/day of doxribtimine)[2].

Current Clinical Trials

There are currently two notable clinical trials involving doxecitine:

  1. Expanded Access Program: This program allows patients with TK2d to access doxecitine and doxribtimine before it’s officially approved. It’s available for patients whose symptoms started at or before 12 years of age[1].

  2. Phase 2 Open-Label Study: This study is looking at the safety and effectiveness of doxecitine and doxribtimine in patients with TK2d who have previously participated in other studies or were already receiving similar treatments[2].

Safety and Efficacy

The ongoing clinical trials are closely monitoring the safety and effectiveness of doxecitine. Here’s what they’re looking at:

  • Safety: Researchers are tracking any side effects (called adverse events) that patients experience. They’re also monitoring changes in laboratory tests and heart activity (through ECGs)[2].

  • Effectiveness: The trials are measuring several aspects to determine if the medication is working:

    • Motor function (ability to move and control muscles)
    • Respiratory (breathing) status
    • Growth and nutrition
    • Need for feeding tubes
    • Levels of certain substances in the blood (biomarkers) that might indicate how well the treatment is working[2]

Impact on Patients’ Lives

The clinical trials are also looking at how doxecitine might improve patients’ overall quality of life. They’re using questionnaires to assess things like muscle weakness, pain, fatigue, and how well patients can perform daily activities[2]. Additionally, both doctors and patients/caregivers are being asked to provide their impressions of how much the patient has improved with treatment[2].

It’s important to note that while doxecitine shows promise, it is still being studied and is not yet approved for widespread use. Patients interested in this treatment should discuss it with their healthcare providers to understand if it might be appropriate for their specific situation.

Aspect Details
Drug Doxecitine, often combined with doxribtimine
Target Condition Thymidine Kinase 2 (TK2) Deficiency
Administration Oral or via feeding tube, typically in 3 equal doses daily
Trial Duration Varies, typically 24 months to 3 years
Primary Outcomes Safety, motor function, respiratory function
Secondary Outcomes Quality of life, biomarkers, pharmacokinetics
Expanded Access Available for certain patient groups
Key Assessments 6-minute walk test, spirometry, muscle strength tests

FAQ

  • What is Doxecitine and how is it used in clinical trials? Doxecitine is a pyrimidine nucleoside used in combination with doxribtimine 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 focused on treating Thymidine Kinase 2 (TK2) Deficiency, a rare mitochondrial disorder that causes progressive muscle weakness and respiratory problems.
  • How long do the clinical trials for Doxecitine typically last? The duration of clinical trials varies, but some studies last approximately 3 years, while others may be shorter, such as 24 months. Some results may be observed within the first 6 to 12 months of treatment.
  • What are the main outcomes being measured in these trials? The trials measure various outcomes, including safety (adverse events), motor function (using tests like the 6-minute walk test), respiratory function (through spirometry), quality of life, and changes in biomarkers related to TK2 deficiency.
  • Are there any expanded access programs available for Doxecitine? Yes, there are expanded access programs available for doxecitine and doxribtimine for patients with TK2 deficiency, particularly for those with an age of symptom onset ≤ 12 years.

Ongoing Clinical Trials on Doxecitine

  • 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 mitochondrial disorder that causes progressive muscle weakness and can affect various body systems, particularly the muscles used for movement and breathing.
  • Pyrimidine Nucleosides: A class of compounds that are building blocks of DNA and RNA. In these trials, doxecitine and doxribtimine are pyrimidine nucleosides used to treat TK2 deficiency.
  • Expanded Access Program (EAP): A program that allows patients with serious or life-threatening conditions to access investigational drugs outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
  • Mitochondrial DNA Depletion and Multiple Deletions Syndromes (MDDS): A group of genetic disorders that affect the mitochondria, the energy-producing structures in cells. TK2 deficiency is one type of MDDS.
  • Spirometry: A common test used to assess how well your lungs work by measuring how much air you inhale and exhale, and how quickly you exhale.
  • Forced Vital Capacity (FVC): The total amount of air exhaled during a forced breath, which is an important measure of lung function.
  • 6-minute Walk Test (6MWT): A test that measures the distance an individual can walk over a total of six minutes on a hard, flat surface, used to assess endurance and functional capacity.
  • Medical Research Council (MRC) Scale: A scale used to grade muscle strength, ranging from 0 (no visible muscle contraction) to 5 (full strength).
  • Biomarkers: Measurable indicators in the body that can be used to assess the presence or progress of a disease or the effects of treatment. In these trials, biomarkers like lactate levels and GDF15 are measured.
  • Peak Oxygen Consumption (VO2 max): The maximum rate of oxygen consumption measured during incremental exercise, which reflects the aerobic physical fitness of the individual.

References