View clinical trials related to Leukoencephalopathies.
Filter by:The purpose of this study is to delineate early neurological features and their progression in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in order to facilitate early diagnosis, prevent erroneous diagnosis and mistreatment and improve physician education about this relatively common yet under-recognized dementing disorder. Patients with CADASIL suffer from a variant from migraine that differs from wild type migraine in terms of its severity, progressive nature and underlying pathophysiology. Recurrent stereotypic acute confusional state associated with the headache episodes in patients with CADASIL is a distinctive phenomenon, which if recognized will lead to an earlier and accurate diagnosis of this condition. Specific Aims: - Characterize the nature, frequency and severity of migraine in patients with CADASIL. - Delineate the phenomenon of acute confusional migraine as a distinct subgroup of migraine and establish its prevalence in patients with CADASIL. - Determine the latency between the onset of neurological symptoms including migraine, and diagnosis of CADASIL and the prevalence of misdiagnosis.
Background: - A leukodystrophy is a disease affecting the white matter of the brain. The white matter conducts electricity from one part of the brain to the other. If the insulation, or myelin, is damaged, the brain s electrical pathways will not work properly. Researchers are trying to identify what causes leukodystrophy. Objectives: - To collect detailed clinical characterizations, including histories, physical examinations, biochemical tests, genetic studies, and neurophysiologic and neuroimaging studies in patients with unclassified leukodystrophies to comprehensively characterize such patients and obtain comparative clinical profiles. - To collect detailed clinical characterizations, including histories, physical examinations, biochemical tests, genomic and proteomic tissue, and neurophysiologic and neuroimaging studies in patients with known leukodystrophies to investigate the underlying pathogenesis of these disorders. - To better understand leukodystrophies of unknown cause and to identify the part of the DNA of the patient with leukodystrophy that is causing the problem. Eligibility: - Any individual with a known or suspected leukodystrophy is eligible to participate in this protocol, including - Patients with white matter disease that is unclassified or of unknown cause, including but not limited to leukoencephalopathies with calcifications, leukoencephalopathies with cysts, leukoencephalopathies with hypomyelination, and leukoencephalopathies with brainstem involvement. - Parents or siblings of these subjects. - Exclusion criteria include patients too ill to travel to the Clinical Center and patients for whom the leukoencephalopathy is felt to be secondary to an acquired cause (for example, traumatic or infectious). Design: - Patients will be seen either as an inpatient or outpatient depending on the tests that are planned. Patients may need to stay at the Clinical Center for 3 to 5 days. - The following tests will be conducted as part of standard clinical care: - Physical and neurological examinations, including blood and urine tests. - Magnetic resonance based studies to produce a picture of the patient s brain (under general anesthesia). - Spinal tap to measure chemicals in the spinal fluid (under general anesthesia in young children). - Nerve biopsy, if the peripheral nerves are affected, or muscle biopsy, if the cells called the mitochondria or the muscles are involved (both under general anesthesia). - The following studies may be performed as part of participation in the research: - Blood, urine, spinal fluid, or muscle to understand the proteins, DNA, and molecules in these tissues. - Skin biopsy to grow (in culture) skin cells and to analyze the skin microscopically. - DNA studies to find new genes responsible for leukodystrophies and to better understand these diseases. - Participation should be based on an interest to help further the research on leukodystrophies. Specific information about a patient s present or future health risks may not be gained.
The primary purpose of this study is to assess whether hyperbaric oxygen treatment improves neurological function in patients who exhibit white matter hyperintensities on MRI examination. The secondary goal of this study is to determine if it is possible using MRI to discern a difference in perfusion of central nervous system tissue in regions of white matter hyperintensities after hyperbaric oxygen administration as compared to hyperbaric air.
Progressive multifocal leucoencephalopathy (PML) is a rare infectious disease of the brain, provoked by the JC virus. It usually occurs in subjects with impaired immune system as during HIV infection. To date, there is no specific antiviral treatment susceptible to cure PML. But it was shown in the setting of HIV-related PML, that combination antiretroviral therapy allows a restoration of the immune system and then might stop the progression of PML. The objective of this study is to appreciate the supplementary efficiency brought by an association of more powerful antiretroviral molecules including enfuvirtide on the evolution of PML. This research program will involve 30 patients in several centres in France. All the patients who will participate will receive enfuvirtide during 6 months in association with a combination of two or more potent antiretroviral drugs. The total duration of follow-up for a patient will be of 1 year.
The purpose of this study is to see if it is safe and effective to give topotecan through a vein to treat HIV-infected patients with PML, an opportunistic (AIDS-related) infection caused by a virus that infects brain tissue and causes damage to the brain and the spinal cord. Topotecan fights HIV and the JC virus (the virus that causes PML) in laboratory experiments.
The objective of this open-label study regimen is to make didanosine (ddI) available to patients with AIDS who are clinically deteriorating on zidovudine (AZT) and cannot enter the Phase II ddI programs due to protocol exclusion or geographic location.
To study the effectiveness of alpha interferon (IFN-A2b) and zidovudine (AZT) in treating progressive multifocal leukoencephalopathy (PML) as a complication of HIV-1 infection.
To compare the safety and efficacy of antiretroviral therapy (zidovudine plus either didanosine or dideoxycytidine) versus antiretroviral therapy plus intravenous cytarabine (Ara-C) versus antiretroviral therapy plus intrathecal Ara-C in the maintenance or improvement of neurological function over 6 months in HIV-infected individuals who have developed progressive multifocal leukoencephalopathy (PML). To compare the effect of these three treatment regimens on Karnofsky score and MRI studies. The effectiveness of Ara-C in the treatment of PML, caused by a human DNA papovavirus (designated JC virus) infection, has not been determined, although the most encouraging results have occurred with intrathecal administration of the drug.
The purpose of this study is to evaluate the safety, tolerance, and overall effectiveness of cidovir to treat PML in AIDS patients. PML is an opportunistic infection (HIV-associated, due to weak immune system) caused by a virus that attacks the brain. Cidovir has been used effectively to treat cytomegalovirus (CMV) of the eye. Cidovir could be an effective treatment for PML as well.