What side effects are associated with this type of intervention?

The treatment for Mitochondrial DNA Depletion Syndrome using Deoxynucleosides Pyrimidine (Deoxycytidine dC and Deoxythymidine dT) aims to enhance the salvage pathway by increasing the availability of deoxyribonucleosides to prevent mtDNA depletion. While the specific side effects of these deoxynucleosides are not detailed in the provided context, treatments of this nature are generally well-tolerated. Potential side effects could include gastrointestinal disturbances, such as nausea or diarrhea, and possible allergic reactions. It is important for patients to be monitored closely by their healthcare provider to manage any adverse effects that may arise.

What prior FDA approvals exist?

There are no FDA-approved therapies specifically for Mitochondrial DNA Depletion Syndrome (MDS). Current treatments are mainly directed towards symptomatic management. However, clinical trials are investigating the use of Deoxynucleosides Pyrimidine (Deoxycytidine dC and Deoxythymidine dT) to enhance the salvage pathway by increasing the availability of deoxyribonucleosides, which may prevent mtDNA depletion and potentially improve clinical outcomes.

What other types of research exist?

Promising novel alternatives to Deoxynucleosides Pyrimidine for Mitochondrial DNA Depletion Syndrome patients may include therapies targeting specific genetic mutations involved in mtDNA maintenance, such as gene therapy approaches or small molecules that enhance mitochondrial function. Additionally, research into other nucleotide supplementation strategies or agents that can improve mitochondrial biogenesis and function could provide new treatment options.

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Deoxynucleoside Therapy for Mitochondrial Disease (dC-dT-MDS Trial)

Phase 2

Recruiting

Led By Kenneth Alexis MD Myers, MD PhD FRCPC

Research Sponsored by McGill University Health Centre/Research Institute of the McGill University Health Centre

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Clinical Diagnosis of a Mitochondrial Depletion Disorder

Clinical Diagnosis of a Mitochondrial Depletion Disorder.

Must not have

Chronic severe diarrhea

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 104 weeks

Awards & highlights

No Placebo-Only Group

Summary

This trial tests a treatment using specific DNA building blocks to help children with a severe genetic disorder that affects energy production in their cells. The goal is to see if this treatment can improve their condition by restoring the function of their mitochondria.

Who is the study for?

This trial is for children and adults (0-60 years old) with a confirmed diagnosis of Mitochondrial Depletion Disorder. Participants must have specific genetic mutations (POLG, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4). Women who can bear children must test negative for pregnancy and agree to use contraception.

What is being tested?

The trial tests a combination of deoxycytidine and deoxythymidine as an early treatment for Mitochondrial Depletion Syndrome. This phase II trial aims to confirm the safety and effectiveness of these compounds in improving mitochondrial function.

What are the potential side effects?

While the description does not specify side effects, previous trials suggest that the mix of deoxynucleosides being tested is generally well-tolerated. However, potential side effects are not detailed here.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have been diagnosed with a mitochondrial depletion disorder.

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I have been diagnosed with a mitochondrial depletion disorder.

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My genetic test shows mutations in specific energy production genes.

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I am 18 years old or younger.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have long-term severe diarrhea.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 104 weeks

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~104 weeks

This trial's timeline: 3 weeks for screening, Varies for treatment, and 104 weeks for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Rate of Responder versus Non-Responder Status with investigational product

Secondary study objectives

Number of participants experiencing dose-limiting toxicities, adverse events (AEs), serious adverse events (SAEs)

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: dC/dT100-400 ArmExperimental Treatment1 Intervention

Children \& Adult (0-60 Y), who takes the investigational product deoxynucleosides pyrimidine (mix of deoxycytidine and deoxythymidine), following the protocol.

0 / 5Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

The most common treatments for Mitochondrial DNA Depletion Syndrome (MDS) focus on enhancing the salvage pathway by increasing the availability of deoxyribonucleosides, such as Deoxycytidine (dC) and Deoxythymidine (dT). These treatments work by providing the necessary building blocks for mitochondrial DNA (mtDNA) synthesis, thereby preventing mtDNA depletion. This is crucial for MDS patients because mtDNA depletion leads to impaired energy production in affected tissues and organs. By restoring the levels of deoxyribonucleosides, these treatments aim to improve mitochondrial function and potentially ameliorate the clinical symptoms associated with MDS.