MT1621 for TK2 Deficiency

(Continuation Trial)

Not currently recruiting at 15 trial locations
Age: Any Age
Sex: Any
Trial Phase: Phase 2
Sponsor: Zogenix MDS, Inc.
Must be taking: Nucleos(t)ides
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Prior Safety DataThis treatment has passed at least one previous human trial

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial examines the safety and effectiveness of a treatment called MT1621 for individuals with TK2 deficiency, a condition affecting cellular energy production and potentially causing muscle weakness. Participants will receive two experimental drugs, doxecitine and doxribtimine, to assess their impact on symptoms. Suitable candidates for this trial include those already receiving treatment for TK2 deficiency and with a confirmed genetic mutation in the TK2 gene. As a Phase 2 trial, the research focuses on evaluating the treatment's efficacy in an initial, smaller group of participants.

Will I have to stop taking my current medications?

The trial requires participants to continue their current treatment with nucleos(t)ides for TK2 deficiency throughout the study.

Is there any evidence suggesting that this trial's treatments are likely to be safe?

Research shows that the combination of doxecitine and doxribtimine is being tested for safety in people with thymidine kinase 2 deficiency, a rare condition. Previous studies have used this combination without major safety issues. One study examined how the body processes these drugs and found they were generally well-tolerated.

Specific safety data from these studies is not available, but the Phase 2 trial status indicates the treatment has already passed initial safety tests. This suggests major safety concerns are less likely, yet the treatment remains under close monitoring to ensure participant safety.12345

Why are researchers excited about this trial's treatments?

Most treatments for TK2 deficiency focus on managing symptoms and providing supportive care because there aren't many targeted therapies available. But MT1621 stands out because it combines doxecitine and doxribtimine, which are designed to boost energy production in cells by targeting mitochondrial function directly. This approach is different from standard treatments, which don't address the root cause of the energy deficiency. Researchers are excited about MT1621 because it has the potential to improve muscle strength and reduce the progression of this rare and debilitating condition by tackling the underlying mitochondrial dysfunction.

What evidence suggests that MT1621 might be an effective treatment for TK2 deficiency?

Research shows that the combination of doxecitine and doxribtimine, which participants in this trial will receive, can greatly benefit people with thymidine kinase 2 (TK2) deficiency. Studies have found a 95% reduction in the risk of death for patients who received this treatment, significantly lowering the chance of dying from TK2 deficiency. Results also indicate an estimated 85% to 93% decrease in the risk of death from the onset of symptoms. These findings suggest that this treatment could be highly effective for patients with TK2 deficiency.12356

Who Is on the Research Team?

UC

UCB Cares

Principal Investigator

001 844 599 2273

Are You a Good Fit for This Trial?

This trial is for patients with TK2 deficiency who have a confirmed genetic mutation in the TK2 gene, are not pregnant or breastfeeding, agree to use contraception, and can maintain their current treatment and exercise regimens. They must not have liver disease or certain other medical conditions that could affect study results.

Inclusion Criteria

My condition involves a confirmed TK2 gene mutation.
Current treatment with nucleos(t)ides for TK2 deficiency. Patients 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 to serve as baseline assessments for purposes of evaluating safety and efficacy
I am not pregnant, breastfeeding, or planning to become pregnant and agree to use effective birth control.
See 5 more

Exclusion Criteria

I don't have any health issues that could affect my TK2 deficiency study results.
My liver function tests are normal or I have approval for higher levels.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive doxecitine and doxribtimine up to a maximum of 800 mg/kg/day

Approximately 3 years

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

  • MT1621
Trial Overview The safety and effectiveness of two drugs, doxecitine and doxribtimine, are being tested in individuals with thymidine kinase 2 (TK2) deficiency. This Phase 2 trial is open-label, meaning both researchers and participants know which treatment is given.
How Is the Trial Designed?
1Treatment groups
Experimental Treatment
Group I: doxecitine and doxribtimineExperimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

Zogenix MDS, Inc.

Lead Sponsor

Trials
4
Recruited
150+

Modis Therapeutics, Inc.

Lead Sponsor

Trials
4
Recruited
150+

UCB BIOSCIENCES, Inc.

Lead Sponsor

Trials
28
Recruited
7,200+

Zogenix, Inc.

Industry Sponsor

Trials
25
Recruited
2,600+

Published Research Related to This Trial

Supplementation with deoxycytidine and deoxythymidine monophosphates (dCMP+dTMP) in a mouse model of thymidine kinase 2 (TK2) deficiency significantly increased mitochondrial DNA levels and improved mitochondrial function, leading to a prolonged lifespan from 13 days to 34 days with treatment.
This study represents the first effective pharmacological treatment for TK2 deficiency, demonstrating that dCMP/dTMP can effectively bypass the enzyme deficiency and ameliorate biochemical defects associated with the condition.
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.Garone, C., Garcia-Diaz, B., Emmanuele, V., et al.[2021]

Citations

Results published in Neurology highlight a 95% reduction ...Estimated reductions in risk of death with treatment were between 85% and 93% (HR 0.067–0.147) for time from TK2d symptom onset and between 75% ...
Pharmacokinetics and Safety of a 1:1 Mixture of Doxecitine ...Doxecitine and doxribtimine (referred to as study drug) is being developed as treatment for people with thymidine kinase 2 deficiency (TK2d).
NCT06754098 | Doxecitin and Doxribthymine in Adult ...This is an Open Label, single-arm, single-center clinical study to evaluate the efficacy and safety of dT+dC in adults with TK2 deficiency (TK2d).
Results published in Neurology highlight a 95% reduction ...Results published in Neurology highlight a 95% reduction in risk of death with pyrimidine nucleos(t)ide therapy in patients with thymidine ...
Doxecitin and Doxribthymine in Adult Subjects With ...Researchers will evaluate the effectiveness of the treatment doxecitin and doxribthymine in adult participants with TK2 deficiency. In addition, the ...
Study on the Safety and Effects of Doxecitine ...This study investigates the safety and effects of the combined substances doxecitine and doxribtimine as a potential treatment for the rare ...
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