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

2 1 1

What is this study about?

This study focuses on Thymidine Kinase 2 Deficiency (TK2), which is a rare genetic condition affecting the body’s ability to produce energy in cells. The study will evaluate a combination treatment consisting of doxecitine and doxribtimine (also known as MT1621), which are pyrimidine nucleosides given as an oral solution.

The purpose of this research is to understand how safe and effective continued treatment with this medication combination is for patients who have previously received similar treatments for their TK2 deficiency. The medication will be given by mouth, with doses calculated based on the patient’s weight up to a maximum of 800 milligrams per kilogram per day.

During the study, which may last up to 72 months, participants will continue their current treatment while researchers monitor their health through various tests. The study will track how well patients tolerate the medication and observe any changes in their condition. Researchers will also measure how the medication moves through the bloodstream and assess its taste using a simple rating scale.

1 Initial assessment and enrollment

You will be confirmed to have a genetic mutation in the TK2 gene

A pregnancy test will be required if you are a female 10 years or older

You must be currently receiving treatment with nucleosides for TK2 deficiency

2 Treatment protocol

You will receive a combination of two medications: doxecitine and doxribtimine

The medication will be given as an oral solution that you take by mouth

You will need to maintain your current treatment and exercise routine throughout the study

3 Safety monitoring

Your health will be monitored through regular blood tests

Heart monitoring will be performed using electrocardiograms

Any side effects will be recorded and monitored

4 Regular assessments

Your movement abilities will be tested regularly

Breathing tests will be conducted to check lung function

Your feeding status will be monitored

Quality of life questionnaires will be completed

If you are under 18, your growth will be tracked

Blood samples will be taken to measure drug levels and other markers

5 Study duration

The study runs from September 2019 to June 2025

You will need to continue following all study requirements until your participation ends

Who Can Join the Study?

  • Must sign an informed consent form (for parents/legal guardians) or provide assent (for participants when applicable)
  • Must have confirmed genetic mutations in the TK2 gene (a gene responsible for an important enzyme in cell energy production)
  • Must not have any other genetic diseases
  • Must be currently receiving nucleoside treatment (special medications) for TK2 deficiency
  • For female participants:
    • Must not be breastfeeding
    • Must have a negative pregnancy test if 10 years or older
    • Must not plan to become pregnant during the study
    • If able to become pregnant, must use effective birth control during the study and for 30 days after
  • For male participants:
    • Must use condoms during the study and for 30 days after the last dose
    • Must not donate sperm for 30 days after the last dose
  • Must be willing to maintain current treatment and exercise routines throughout the study
  • Must be willing to follow all study requirements, including attending appointments and taking medications as prescribed

Who Cannot Join the Study?

  • Patients who have not previously received treatment with dC/dT, dCMP/dTMP or doxecitine and doxribtimine (these are specific medications used to treat thymidine kinase 2 deficiency)
  • Individuals who are unable to comply with study procedures and follow-up visits
  • Patients with known allergies or severe reactions to the study medications
  • Those who are participating in other clinical trials at the same time
  • Patients with severe liver or kidney problems that could affect the metabolism of study medications
  • Pregnant women or women planning to become pregnant during the study period
  • Breastfeeding mothers
  • Patients who have had major surgery within 30 days before starting the study
  • Individuals with serious medical conditions that could interfere with study participation
  • Patients who cannot provide informed consent or do not have a legal guardian who can provide consent

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

No sites found in this category

Other Sites

Site Name City Country Status
Hospital Sant Joan De Deu Barcelona Esplugues De Llobregat Spain
Hospital Universitario 12 De Octubre Madrid Spain
Virgen del Rocío University Hospital Sevilla Spain
Hceqbdfe Vjmy dvmyjwkp Barcelona Spain

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
Spain Spain
Not recruiting
04.09.2019

Trial locations

Investigated drugs:

Doxecitine and doxribtimine are combination medications used to treat a rare genetic condition called Thymidine Kinase 2 (TK2) deficiency. These medications are pyrimidine nucleosides that help replace missing components in cells affected by TK2 deficiency. They work together to support proper cellular function in patients with this condition.

dCMP/dTMP is a combination treatment that works similarly to doxecitine and doxribtimine. It is another form of pyrimidine nucleoside therapy used to treat TK2 deficiency by helping to restore normal cellular processes in patients with this genetic condition.

dC/dT (combination pyrimidine nucleosides) is another formulation of treatment that contains similar active components to help patients with TK2 deficiency. Like the other medications in this trial, it works by providing the body with important cellular building blocks that are lacking due to the genetic condition.

Investigated diseases:

Thymidine Kinase 2 Deficiency – A rare genetic condition that affects the body’s ability to produce mitochondrial DNA. The disease causes progressive muscle weakness due to problems with an enzyme called thymidine kinase 2, which is essential for producing DNA building blocks in mitochondria. It primarily affects muscle tissues throughout the body, including those used for movement, breathing, and swallowing. The condition can begin in childhood or adulthood, with varying rates of progression. People with this condition may experience difficulty with physical activities and movements that were previously normal for them.

Trial ID:
2023-510427-29-00
Protocol code:
TK0102
NCT ID:
NCT03845712
Trial Phase:
Therapeutic exploratory (Phase II)

Other Trials to Consider

  • Venetoclax plus drug combination versus drug combination alone in children with relapsed acute myeloid leukemia

    Recruiting

    3 1 1 1
    Austria Belgium Czechia Denmark Finland France +8
  • A study to evaluate the efficacy and safety of depemokimab and salbutamol sulfate in patients with chronic obstructive pulmonary disease and type 2 inflammation.

    Recruiting

    3 1 1
    Belgium Bulgaria Denmark France Germany Greece +6