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CADASIL clinical trials

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NCT ID: NCT03724136 Enrolling by invitation - Alzheimer Disease Clinical Trials

Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study

ACIST
Start date: October 24, 2018
Phase: N/A
Study type: Interventional

The purpose of the study is to evaluate the use of autologous Bone Marrow Derived Stem Cells (BMSC) as a means to improve cognitive impairment as occurs in Alzheimer's Disease and other dementias and to improve behavior and socialization issues which occur in adult Autism Spectrum Disorder. The use of Near Infrared Light, in conjunction with the use of BMSC, will also be assessed.

NCT ID: NCT03047369 Recruiting - Clinical trials for Adrenoleukodystrophy

The Myelin Disorders Biorepository Project

MDBP
Start date: December 8, 2016
Phase:
Study type: Observational [Patient Registry]

The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.

NCT ID: NCT02837354 Completed - CADASIL Clinical Trials

The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage?

CAA
Start date: June 2014
Phase: N/A
Study type: Observational

The Cerebral Amyloid angiopathy (CAA) is the leading cause of cortical hemorrhage after 65 years. The presence of cerebral infarction is also reported anatomically in the AAC. MRI studies of these infarcts are rare. They are described as punctate, cortical silent. Frequency and pathophysiology is poorly understood. The investigators put the question of a link with hemorrhagic lesions of the AAC.

NCT ID: NCT02821780 Completed - Clinical trials for Cardiovascular Disease

CADASIL Disease Discovery

Start date: October 18, 2016
Phase:
Study type: Observational

Cerebral autosomal dominant arteriopathy with subcortical infarct (CADASIL) is a lethal disease caused by a gene mutation that affects arteries in the brain. Symptoms include migraines, strokes, memory loss, and dementia. There are no treatments. Researchers want to study people who have CADASIL to learn more about it. Objectives: To learn more about CADASIL by studying people who have it. Eligibility: People ages 18-100 who were diagnosed with CADASIL in the past 5 years and can make their own decisions Design: Participants will be screened in another NIH protocol. Participants will have 3 visits over 2 years. These may include: - Physical exam - Thinking and concentration tests - Blood tests - Skin biopsy: A small skin punch is removed from the arm or leg - Eye exam and eye imaging tests - Fluorescein angiogram: A catheter is placed in an arm vein. Dye is given through the catheter and travels to the eyes. - EndoPAT: A small clamp on the fingertip measures blood volume. - Cardio-ankle vascular index (CAVI): Artery stiffness is tested with blood pressure cuffs on the arms and legs. Soft electrodes on the skin measure heart signals. - Brain MRI or MRA: They lie on a table that slides in and out of a tube that takes pictures. They may get a contrast agent in their vein. It brightens the brain so researchers can see where blood flows. - CT scan of the heart: They lie on a table that slides in and out of a machine that takes pictures. - They get contrast dye injected through a catheter. They may get a medicine that makes their blood vessels bigger or slows their heart rate.

NCT ID: NCT02795052 Recruiting - Stroke Clinical Trials

Neurologic Stem Cell Treatment Study

NEST
Start date: June 2016
Phase: N/A
Study type: Interventional

This is a human clinical study involving the isolation of autologous bone marrow derived stem cells (BMSC) and transfer to the vascular system and inferior 1/3 of the nasal passages in order to determine if such a treatment will provide improvement in neurologic function for patients with certain neurologic conditions. http://mdstemcells.com/nest/

NCT ID: NCT02699190 Active, not recruiting - Clinical trials for Adrenoleukodystrophy

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Start date: January 6, 2017
Phase:
Study type: Observational

Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes. While recent work has demonstrated that whole genome sequencing (WGS), has the potential to dramatically increase diagnostic efficiency, significant questions remain around the impact on downstream clinical management approaches versus standard diagnostic approaches.

NCT ID: NCT02071784 Completed - CADASIL Clinical Trials

Imaging Study of Neurovascular Coupling in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)

MACOUPLING-CAD
Start date: July 8, 2014
Phase:
Study type: Observational

The aim of this study is to investigate using fMRI methods, EEG and dedicated mathematical models, the potential alterations of neurovascular coupling in CADASIL.

NCT ID: NCT02032225 Enrolling by invitation - CADASIL Clinical Trials

Generation of a Cellular Model of CADASIL From Skin Fibroblasts

Start date: February 2014
Phase: N/A
Study type: Observational

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL) is an archetypal small vessel disease of the brain caused by dominant mutations in the NOTCH3 receptor. Cardinal vascular lesions include deposition of granular osmiophilic material (GOM) within the basal lamina of smooth muscle cells, progressive smooth muscle cell loss, and fibrosis of the media. Pathogenic mutations alter the number of cysteine residues in the extracellular domain of NOTCH3 (Notch3 ECD), leading to its abnormal accumulation in the GOM deposits. Vascular smooth muscle cell has been identified as the primary target cell in this disease. Pathophysiological processes leading from NOTCH3 mutations to smooth muscle cell loss remain poorly understood. The investigators propose to study these mechanisms by reprogramming skin cells to become stem cells and then differentiating them to vascular smooth muscle cells. The hypothesis of this study is that the differentiated smooth muscle cells will display the characteristic features of CADASIL, ie, Notch3 ECD accumulation and GOM deposits.

NCT ID: NCT01865604 Completed - Migraine With Aura Clinical Trials

Impact of tDCS on Cerebral Autoregulation

Start date: April 2012
Phase: N/A
Study type: Interventional

The aim of the study is to investigate whether there is a polarity-specific influence of tDCS on cerebral vasomotor reactivity monitored by transcranial doppler sonography.

NCT ID: NCT01361763 Recruiting - CADASIL Clinical Trials

Safety Study of Dabigatran in CADASIL

SONICA
Start date: June 2011
Phase: Phase 2
Study type: Interventional

This study is a Phase II, randomized, crossover trial designed to compare one fixed dose of dabigatran with open-label use of ASA in patients affected by CADASIL; the study is a safety trial, and the primary objective is to assess that dabigatran is not less safe than ASA in subjects with CADASIL.