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Nucleotide Precursor

Nucleotide Precursors for TK2 Deficiency

Phase 1 & 2

Waitlist Available

Led By Michio Hirano, MD

Research Sponsored by Columbia University

Eligibility Criteria Checklist

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

Must have

Genetically confirmed diagnosis of TK2 deficiency

Single gene disease; absence of polygenic disease

Timeline

Screening 3 weeks

Treatment Varies

Follow Up up to 60 months

Awards & highlights

Study Summary

This trial is for patients with a mitochondrial DNA depletion syndrome caused by a thymidine kinase 2 deficiency. The treatment is open label deoxythymidine and deoxycytidine, which are nucleotide precursors that may help reduce clinical symptoms by increasing the number of functional mitochondrial DNA.

Who is the study for?

This trial is for patients with genetically confirmed TK2 deficiency, a condition affecting mitochondrial DNA. Participants must not be taking other investigational drugs or certain supplements and should have normal blood counts. They need to consent to the study rules and may require a caregiver's help to follow the protocol.Check my eligibility

What is being tested?

The trial tests whether giving patients with TK2 deficiency two substances, deoxythymidine (dThd) and deoxycytidine (dCyt), can increase their mitochondrial DNA levels and improve symptoms. It's an open-label study, meaning everyone knows what treatment they're getting.See study design

What are the potential side effects?

Potential side effects are not explicitly listed but could include issues related to abnormal nucleotide levels in cells since dThd and dCyt are nucleotide precursors used by mitochondria.

Eligibility Criteria

Inclusion Criteria

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

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My condition is genetically confirmed TK2 deficiency.

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My condition is caused by a single gene, not multiple genes.

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My blood's hematocrit levels are within the normal range for my age.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ up to 60 months

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~up to 60 months

This trial's timeline: 3 weeks for screening, Varies for treatment, and up to 60 months for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Alanine aminotransferase

Aspartate aminotransferase

Blood lymphocyte count

+4 more

Secondary outcome measures

6-minute walk test

Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

Event-free survival

+6 more

Trial Design

1Treatment groups

Experimental Treatment

Group I: Open label thymidine and deoxycytidineExperimental Treatment1 Intervention

All patients will receive open label thymidine and deoxycytidine

0 / 3Eligibility criteria met

Find a Location

Who is running the clinical trial?

Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), SpainUNKNOWN

Columbia UniversityLead Sponsor

1,431 Previous Clinical Trials

2,460,810 Total Patients Enrolled

Muscular Dystrophy AssociationOTHER

36 Previous Clinical Trials

60,408 Total Patients Enrolled

Media Library

Deoxycytidine (dCyt) (Nucleotide Precursor) Clinical Trial Eligibility Overview. Trial Name: NCT03639701 — Phase 1 & 2

Thymidine Kinase Deficiency Research Study Groups: Open label thymidine and deoxycytidine

Thymidine Kinase Deficiency Clinical Trial 2023: Deoxycytidine (dCyt) Highlights & Side Effects. Trial Name: NCT03639701 — Phase 1 & 2

Deoxycytidine (dCyt) (Nucleotide Precursor) 2023 Treatment Timeline for Medical Study. Trial Name: NCT03639701 — Phase 1 & 2

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

Do you know of any other research done on Thymidine?

"There are 9 ongoing trials for Thymidine with 0 in Phase 3. The drugs testing is primarily taking place in Buffalo, New york; however, there are 26 research centres running these studies."

Answered by AI

What are the main goals that this clinical trial is hoping to achieve?

"The purpose of this long-term study is to evaluate the efficacy of alanine aminotransferase over a period of up to 60 months. Additionally, the team hopes to gain insights into secondary outcomes such as the effect of muscle weakness on motor function and activities of daily living in pediatric subjects (<18 years-old). To do this, they will be using Neuro Quality of Life (Neuro-QoL) forms. For those >1 year-old, another metric called Hammersmith Functional Motor Scale Expanded (HFMSE) will also be employed. Finally, Time on Mechanical Ventilation will be recorded"

Answered by AI

Are patients being accepted into this research program at this time?

"Presently, this clinical trial is not looking for new participants. You can find the date when it was first posted (5/16/2017) and last updated (7/28/2022) on the study's webpage. If you are interested in other studies, there are 1 trials recruiting patients with thymidine kinase and 9 for Thymidine currently admitting participants."

Answered by AI

Is this research the inaugural study of its genre?

"Thymidine's medical research dates back to 2014. The first study, 122 in total, was completed that year and sponsored by GenVivo, Inc.. After the initial study Thymidine received Phase 1 drug approval in As of now there are 9 live studies being conducted for Thymidine across 10 cities and 5 countries."

Answered by AI

Could you tell me how many people are currently signed up for this research project?

"This trial is no longer recruiting patients. It was first posted on May 16th, 2017 and last edited on July 8th, 2022. However, there are 9 other trials for Thymidine that are currently looking for participants."

Answered by AI

Recent research and studies

Annals of NeurologyJournal

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency

Lopez-Gomez, Carlos, Rebecca J. Levy, Maria J. Sanchez-Quintero, Martí Juanola-Falgarona, Emanuele Barca, Beatriz Garcia-Diaz, Saba Tadesse, Caterina Garone, and Michio Hirano. 2017. “Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency”. Annals of Neurology. Wiley. doi:10.1002/ana.24922.

EMBO Molecular MedicineJournal

Deoxypyrimidine Monophosphate Bypass Therapy for Thymidine Kinase 2 Deficiency

Garone, Caterina, Beatriz Garcia‐Diaz, Valentina Emmanuele, Luis C Lopez, Saba Tadesse, Hasan O Akman, Kurenai Tanji, Catarina M Quinzii, and Michio Hirano. 2014. “Deoxypyrimidine Monophosphate Bypass Therapy for Thymidine Kinase 2 Deficiency”. EMBO Molecular Medicine. EMBO. doi:10.15252/emmm.201404092.

Molecular Genetics and MetabolismJournal

Molecular and Clinical Characterization of the Myopathic Form of Mitochondrial DNA Depletion Syndrome Caused by Mutations in the Thymidine Kinase (TK2) Gene

Chanprasert, Sirisak, Jing Wang, Shao-Wen Weng, Gregory M. Enns, Daniel R. Boué, Brenda L. Wong, Jerry R. Mendell, et al.. 2013. “Molecular and Clinical Characterization of the Myopathic Form of Mitochondrial DNA Depletion Syndrome Caused by Mutations in the Thymidine Kinase (TK2) Gene”. Molecular Genetics and Metabolism. Elsevier BV. doi:10.1016/j.ymgme.2013.07.009.

Journal of Medical GeneticsJournal