Ignite Creation Date:
2024-05-06 @ 8:18 PM
Last Modification Date:
2024-10-26 @ 3:25 PM
Study NCT ID:
NCT06332625
Status:
RECRUITING
Last Update Posted:
2024-03-27
First Post:
2024-02-23
Brief Title:
The Fingerprinting of Inherited Leukoencephalopathies A New Brain Imaging Genetic and Clinical Assessment
Sponsor:
IRCCS Fondazione Stella Maris
Organization:
IRCCS Fondazione Stella Maris
Study Overview
Official Title:
The Fingerprinting of Inherited Leukoencephalopathies A New Brain Imaging Genetic and Clinical Assessment FIABA
Status:
RECRUITING
Status Verified Date:
2024-03
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:
FIABA
Brief Summary:
Inherited leukoencephalopathies are a broad spectrum of genetically determined disorders characterized by specific involvement of the white matter of the central nervous system These pathologies are almost as common as other acquired white matter disorders such as acute disseminated encephalomyelitis and multiple sclerosis The onset can occur at any age from prenatal life to adulthood and the clinical picture is mostly progressive but can also be non-evolving or rarely improve over time Thanks to new diagnostic approaches including next-generation genetic sequencing and recognition of magnetic resonance imaging patterns in recent years the investigators have witnessed a significant increase in the number of genetically defined leukoencephalopathies However despite advances in genetic studies inherited leukoencephalopathies include a large number of inherited white matter diseases in children and adults and remain of unknown cause in many patients about 40 This significant percentage of cases of unknown etiology represents a major challenge for public health both in prognostic terms and consequently economically However even in leukoencephalopathies of genetically determined cause the absence of specific biomarkers can be a limiting factor in the design and execution of clinical studies in search of promising therapies As in other fields of neurology the integration of clinical and genetic data with brain MRI data plays a fundamental role in the diagnostics of subjects affected by these pathologies Currently the methodologies commonly used in magnetic resonance imaging are qualitative and evaluate brain lesions through the contrast between white and gray matter The lack of specific biomarkers is therefore a limiting factor in the design of therapeutic challenges In this regard the development of new multiparametric quantitative magnetic resonance imaging qMRI methods could allow the investigators to identify new biomarkers to assess the etiology behind leukodystrophies increasing diagnostic power and understanding the progression or improvement of leukoencephalopathy for both future trials and existing therapies In this perspective recent rapid transient-state magnetic resonance imaging methods such as MR Fingerprinting MRF have proven effective in efficiently separating different components of brain tissue These techniques consist of rapid and highly undersampled acquisitions performed by continuously changing the MR sequence parameters thus obtaining a signal evolution that is unique for each combination of underlying tissue properties Furthermore if these techniques have already shown their validity at 3 Tesla they could be even more informative in 7T MRI where the use of qMRI could provide more details thanks to the high image resolution
The projects objective is to evaluate and validate new and innovative quantitative magnetic resonance imaging qMRI methodologies at both clinical and ultra-high fields in inherited leukodystrophies and those of unknown etiology
This is a national multi-institutional multicenter exploratory study on the potential identification and predictability of early structural and metabolic markers in quantitative MRI at 3T and 7T in the diagnosis and follow-up of leukodystrophy and leukoencephalopathy in adults and during development
The study will include multiple sub-studies
1 A cross-sectional study in leukoencephalopathies at clinical fields
2 A longitudinal study in leukoencephalopathies at 3T natural history and therapy outcomes
3 A cross-sectional and longitudinal study at 7T The added value of ultra-high-field Magnetic Resonance Imaging in leukoencephalopathies
The projects objective is to evaluate and validate new and innovative quantitative magnetic resonance imaging qMRI methodologies at both clinical and ultra-high fields in inherited leukodystrophies and those of unknown etiology
This is a national multi-institutional multicenter exploratory study on the potential identification and predictability of early structural and metabolic markers in quantitative MRI at 3T and 7T in the diagnosis and follow-up of leukodystrophy and leukoencephalopathy in adults and during development
The study will include multiple sub-studies
1 A cross-sectional study in leukoencephalopathies at clinical fields
2 A longitudinal study in leukoencephalopathies at 3T natural history and therapy outcomes
3 A cross-sectional and longitudinal study at 7T The added value of ultra-high-field Magnetic Resonance Imaging in leukoencephalopathies
Detailed Description:
None
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