Ignite Creation Date:
2024-05-06 @ 11:56 AM
Last Modification Date:
2024-10-26 @ 12:52 PM
Study NCT ID:
NCT03639701
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2024-01-22
First Post:
2018-08-07
Brief Title:
Treatment of TK2 Deficiency With Thymidine and Deoxycytidine
Sponsor:
Columbia University
Organization:
Columbia University
Study Overview
Official Title:
Deoxythymidine and Deoxycytidine Treatment for Thymidine Kinase 2 TK2 Deficiency
Status:
ACTIVE_NOT_RECRUITING
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Patients with confirmed mitochondrial DNA depletion syndrome 2 thymidine kinase 2 TK2 deficiency have reduced levels of nucleotides deoxythymidine monophosphate and deoxycytidine monophosphate for mitochondrial DNA synthesis This results in mitochondrial DNA depletion syndrome ie less number of functional mitochondrial DNA Patients with confirmed TK2 deficiency will be treated with open label deoxythymidine dThd and deoxycytidine dCyt which are nucleotide precursors with the expectation that the cells could make additional mitochondrial DNA This in turn may help reduce the clinical symptoms
Detailed Description:
Mitochondrial are responsible for the production of cellular energy Mitochondria contain DNA which is the encoding system recipe for making the proteins that allow the mitochondria to function Reduced amount of mitochondrial DNA caused by genetic mutations in certain genes Mitochondrial DNA Depletion Syndrome This can result in symptoms such as fatigue weakness and deficiencies in various body systems TK2 deficiency is considered a mitochondrial depletion syndrome Patients with TK2 deficiency have weakness and walking difficulty They also have depleted levels of chemicals phosphorylated deoxythymidine and deoxycytidine used to make mitochondrial DNA Based on previous studies with a similar compound patients reported more energy and better motor skills
Eligible patients include those with genetic mutations in the TK2 gene who are willing to attend several outpatient visits and have motor skills testing neurological exam by doctor and blood samples
Eligible patients include those with genetic mutations in the TK2 gene who are willing to attend several outpatient visits and have motor skills testing neurological exam by doctor and blood samples
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
True
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None