Ignite Creation Date:
2024-07-17 @ 12:01 PM
Last Modification Date:
2024-10-26 @ 3:33 PM
Study NCT ID:
NCT06474104
Status:
RECRUITING
Last Update Posted:
2024-06-25
First Post:
2024-06-19
Brief Title:
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Sponsor:
Minovia Therapeutics Ltd
Organization:
Minovia Therapeutics Ltd
Study Overview
Official Title:
Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers
Status:
RECRUITING
Status Verified Date:
2024-06
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:
Mitochondrial diseases are a genetically diverse group of disorders some of which are caused by mutations or deletions in the mitochondrial DNA mtDNA and which display a wide range of severity and phenotypes Despite a prevalence of roughly 1 in 8500 in the population there is no effective treatments for the majority of mitochondrial diseases beyond supportive care Gorman 2016 Elliott 2008 Many of these such as Pearson syndrome and Kearns-Sayre syndrome are early onset disorders and may lead to mortality within the first decades of life Importantly mitochondria are selectively inherited from the mother In addition there are numerous diseases in which mitochondrial dysfunction plays an important role Some examples are Alzheimers and Parkinsons disease both of which are known to have mitochondrial involvement
Minovia therapeutics develops a therapeutic intervention called mitochondrial augmentation technology MAT For the development work Minovia needs patients cells with different mutations that will allow to study the baseline heteroplasmy and functionality of patient hematopoietic cells identify potential biomarkers to assess mitochondrial content and function in liquid biopsies and study the efficacy of MAT in different PMDs
Minovia therapeutics develops a therapeutic intervention called mitochondrial augmentation technology MAT For the development work Minovia needs patients cells with different mutations that will allow to study the baseline heteroplasmy and functionality of patient hematopoietic cells identify potential biomarkers to assess mitochondrial content and function in liquid biopsies and study the efficacy of MAT in different PMDs
Detailed Description:
The aim of this study is to identify mitochondria-related potential biomarkers from peripheral blood specimens that will function as a diagnostic tool The intention is to develop direct and indirect functional evaluation for mitochondria performance and to perform a comparison analysis between healthy population and patients with compromised mitochondrial function In order to define what is a dysfunctional mitochondrial with a clinical significance the above assays will function as a junction between the mitochondria characteristics ie content and metabolic function and the blood cell functionality in order to both differentiate between the two cohorts by means of clinical correlation as well as to set a clinical range that correlates to a pathology
In addition the study aims to gain a deeper understanding of the correlation between heteroplasmy level in different hematopoietic subsets in the different PMDs and how this differential heteroplasmy may affect biomarker readouts andor cell functionality or distribution
In addition this study aims to collect skin fibroblasts from PMD patients for the purpose of establishing iPSC lines with different mtDNA mutations andor deletions in order to study efficacy of MAT in patient cells in pre-clinical models derived from these iPSC lines
In addition the study aims to gain a deeper understanding of the correlation between heteroplasmy level in different hematopoietic subsets in the different PMDs and how this differential heteroplasmy may affect biomarker readouts andor cell functionality or distribution
In addition this study aims to collect skin fibroblasts from PMD patients for the purpose of establishing iPSC lines with different mtDNA mutations andor deletions in order to study efficacy of MAT in patient cells in pre-clinical models derived from these iPSC lines
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
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