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Leukoencephalopathies clinical trials

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NCT ID: NCT06335004 Active, not recruiting - Pediatric Disorder Clinical Trials

Evaluation of Brain Waste Clearance Pathways Using Magnetic Resonance Imaging in Pediatric Patients With White Matter Diseases

Start date: March 1, 2022
Phase:
Study type: Observational

The dilation of perivascular spaces can be the result of various etiopathogenetic processes. White matter atrophy can cause enlargement of these perivascular spaces (PVS) but also obstruction of fluid drainage systems (interstitial fluid, ISF) and metabolites, as evidenced by some recent studies. Focal stagnation of liquids and deposition of toxic material induce tissue hypoxia and neuroglial dysfunction. Dilation of PVS can be associated with changes in white matter and microhemorrhages. We want to study these etiopathogenetic phenomena by implementing specific MRI methods.

NCT ID: NCT06332625 Recruiting - Clinical trials for Leukoencephalopathies

The Fingerprinting of Inherited Leukoencephalopathies: A New Brain Imaging, Genetic and Clinical Assessment

FIABA
Start date: May 22, 2023
Phase:
Study type: Observational [Patient Registry]

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 project's 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.

NCT ID: NCT06276504 Not yet recruiting - Clinical trials for Progressive Multifocal Leukoencephalopathy

Pembrolizumab in Progressive Multifocal Leukoencephalopathy (PML) in Immunocompromised Patients Without HIV Infection

PENALTY
Start date: April 2024
Phase: Phase 2/Phase 3
Study type: Interventional

This study aims to assess the efficacy and safety of pembrolizumab in immunocompromised patients with progressive multifocal leukoencephalopathy (PML). This phase II, multicenter, single-arm study includes patients with an underlying cause of immunosuppression hardly reversible, i.e. not the patients with HIV nor those receiving biologics for chronic inflammatory diseases. Patients will receive intravenous pembrolizumab (2 mg/kg, maximum 200 mg) at month 0, 1 and 2 (total of three doses). The primary endpoint will be achieving at least one negative result of JCV viral load in cerebrospinal fluid (CSF) within the M0 to M3 period.

NCT ID: NCT05849467 Recruiting - Multiple Sclerosis Clinical Trials

Central Nervous System Uptake of Anti-CD8+ T Cell Minibodies in Multiple Sclerosis and Progressive Multifocal Leukoencephalopathy

Start date: October 19, 2023
Phase: Phase 1
Study type: Interventional

Background: Multiple sclerosis (MS) and progressive multifocal leukoencephalopathy (PML) are disorders that affect the central nervous system (CNS). The CNS includes the brain, spinal cord, and optic nerves. Both diseases can cause muscle weakness and impair vision, speech, and coordination. Researchers are working to better understand how MS and PML affect the CNS. Objective: To test whether an experimental radioactive tracer (minibody) can help positron emission tomography (PET) scans detect certain immune cells in the CNS of people with MS and PML. Eligibility: People aged 18 years and older with MS or PML. Design: Participants will come to the clinic for at least 3 visits over 4 to 6 weeks. Participants will undergo testing. They will have a physical and neurological exam. They will have blood tests and tests of their heart function. They will have a magnetic resonance imaging (MRI) scan of the brain. They may have a spinal tap: Their lower back will be numbed, and a needle will be inserted between the bones of the spine to withdraw fluid from around the spinal cord. Minibody is given through a tube with a needle placed in a vein in the arm. This takes 5 to 10 minutes. Participants will have heart function tests before and after receiving the minibody. Participants will return the next day for the PET scan. They will lie on a table that moves through a doughnut-shaped machine. This scan will take about 1 hour. Participants with PML may opt to repeat the minibody infusion and the PET scan within 6 months.

NCT ID: NCT05848271 Recruiting - Genetic Disease Clinical Trials

Natural History Study of Patients With HPDL Mutations

Start date: May 1, 2023
Phase:
Study type: Observational

This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations

NCT ID: NCT05757141 Recruiting - Clinical trials for Vanishing White Matter Disease

An Open-Label Exploratory Study of ABBV-CLS-7262 Subjects With Vanishing White Matter Disease

Start date: March 13, 2023
Phase: Phase 1/Phase 2
Study type: Interventional

ABBV-CLS-7262 is an investigational drug being researched for the treatment of Vanishing White Matter disease in adult and pediatric subjects. This is a 96-week, open-label, multiple cohort study enrolling adults and pediatric subjects with Vanishing White Matter disease who are 6 years or older. Subjects will attend regular visits during the course of the study and complete medical assessments, blood tests, checking for side effects, and completing questionnaires.

NCT ID: NCT05750979 Recruiting - Clinical trials for Leukoencephalopathies

Quantifying Disease Progression in LBSL

LBSL
Start date: March 11, 2021
Phase:
Study type: Observational

Leukoencephalopathy with brain stem involvement and lactate elevation (LBSL) is a genetic disorder caused by biallelic mutations in the DARS2 gene that encodes mitochondrial aspartyl tRNA synthase.(1, 2) It is characterized by typical abnormalities on MRI of the brain and spinal cord.(3) Clinically, the disorder is heterogeneous and can present in the neonatal period, later in childhood or even in adults.(3) In general it can be stated that the earlier presentations are characterized by rapid progression leading to severe disability and death. Presentation at a later age is typically characterized by a more benign disease course, although considerable disability is common. Clinically, the disease presents as a slowly progressive myelopathy with mainly involvement of the corticospinal tracts and the dorsal columns. Although the natural history has been studied in large cohorts, the rate of progression has not been systematically studied with clinimetric outcome scales or potential surrogate outcomes for spinal cord disease.

NCT ID: NCT05677880 Recruiting - CADASIL Clinical Trials

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study

Start date: June 3, 2022
Phase:
Study type: Observational

This is an observational study to better understand the risk factors and progression of CADASIL, a leading cause of vascular cognitive impairment and dementia (VCID). 500 participants will be enrolled and can expect to be on study for up to 5 years.

NCT ID: NCT05677659 Active, not recruiting - ALSP Clinical Trials

A Study of VGL101 in Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Start date: December 14, 2022
Phase: Phase 2
Study type: Interventional

This is a multicenter, open-label study to assess the safety and tolerability of iluzanebart (also referred to as VGL101) in subjects with documentation of a gene mutation in the CSF1R gene for the treatment of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and to evaluate the effects of iluzanebart on imaging and biomarkers of disease progression in subjects with ALSP. Participants will receive infusions of iluzanebart approximately every 4 weeks for 1 year. The study includes a 52-week, open-label Core Study, followed by a Long-Term Extension (LTE), which provides subjects who complete the original 52-week study (Core Study) with the option to continue treatment for up to an additional 2 years.

NCT ID: NCT05567744 Recruiting - Clinical trials for Cerebral Autosomal Dominant Ateriopathy With Subcortical Infarcts and Leukoencephalopathy

Registry for CADASIL

Start date: June 3, 2022
Phase:
Study type: Observational [Patient Registry]

This study is being done in order to create a registry (list) of people interested in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) research. It may be that you have a family member or other loved one with CADASIL, or that you may have CADASIL or are at risk. Participation means that your name will be added to a list of people who will be invited to participate in future research studies on CADASIL. Participants must be 18 years or older, and will remain on the registry until they request to be removed.