Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS
C9ORF72 Amyotrophic Lateral Sclerosis (ALS)This research study is being performed to better understand a specific form of Amyotrophic Lateral Sclerosis (ALS) caused by a mutation (or abnormality) of the C9ORF72 gene. This mutation is the most common genetic cause of ALS, and is present in 40% of ALS patients with a family history of ALS and 5-10% of ALS patients without a family history of ALS.
F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS)The purpose of this research study is to evaluate tau distribution in the brain of subjects with: ALS caused by different genetic mutations, any mutation carriers (with or without symptoms), any non-mutation carrier, any sporadic FTD, normal controls.
MSFC Versus DAM. A Smartphone Application for Multiple Sclerosis Self-assessment.
Multiple SclerosisMultiple Sclerosis Functional Composite score (MSFC) is one of the gold standard for multiple sclerosis (MS) patient clinical evaluation. However, its practical implementation is not always optimal as it can prove to be very time consuming. Moreover, it often constrains the range of tests used and is not a particularly good marker for patient real life disability status. A mobile application called Digital Self-Assessment for Multiple Sclerosis (DAM) was developed in order to replicate each of MSFC tests available in order to assess MS progression in the patient environment.
Validation of Hand Held Dynamometer for Assessment of Lower Limb Muscle Strength in Multiple Sclerosis...
Multiple SclerosisEvaluate a method of testing the strength of five key lower limb muscle groups using a hand-held strength gauge (dynamometer).
The MURDOCK Study Community Registry and Biorepository Multiple Sclerosis Cohort
Multiple SclerosisThe goal of this study is to enroll 1000 participants with a history of Multiple Sclerosis into the MURDOCK Study (Duke IRB Pro00011196) as well as into the Multiple Sclerosis Cohort study (Duke IRB Pro00023791). All 1000 participants will answer a 4-page questionnaire administered by a trained study coordinator which is designed to collect information on the participant's diagnosis of Multiple Sclerosis. The goal of the study is to seek genetic explanations for response to treatment, progression of the disease, and biomarker validation.
Digital Ulceration
Systemic SclerosisDigital UlcersThe CAP study is a multicenter, observational, clinical study in patients with systemic sclerosis. The study aims at determining the usefulness of nailfold videocapillaroscopy and patient-specific disease-related factors in predicting the occurrence of digital ulcers within a 6-month observation period. Patients with cutaneous forms of systemic sclerosis (limited or diffuse), with or without history of digital ulceration are eligible. The study will enroll 500 patients at 70 centers.
Amyotrophic Lateral Sclerosis Registry Rhineland-Palatinate
Amyotrophic Lateral SclerosisThere is a lack of prospective and population-based epidemiological data on amyotrophic lateral sclerosis in Germany so far. The purpose of this registry is to investigate the incidence, course and phenotypic variety of ALS in Rhineland-Palatinate, a South-West German state of about 4 million inhabitants.
Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)
FTLDProgressive Supranuclear Palsy (PSP)10 moreFrontotemporal Lobar Degeneration (FTLD) is the neuropathological term for a collection of rare neurodegenerative diseases that correspond to four main overlapping clinical syndromes: frontotemporal dementia (FTD), primary progressive aphasia (PPA), corticobasal degeneration syndrome (CBS) and progressive supranuclear palsy syndrome (PSPS). The goal of this study is to build a FTLD clinical research consortium to support the development of FTLD therapies for new clinical trials. The consortium, referred to as Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL), will be headquartered at UCSF and will partner with six patient advocacy groups to manage the consortium. Participants will be evaluated at 14 clinical sites throughout North America and a genetics core will genotype all individuals for FTLD associated genes.
Analysis of Lymphocyte Cell Surface Adhesion Marker Expression in Natalizumab Population With Active...
Multiple SclerosisThe purpose of the study is to research the association between receiving Tysabri® (natalizumab), interferon beta-1a, glatiramer acetate or not having any treatment for your MS and how it may or may not impact certain white blood cells and other immunological markers. This information may be useful in identifying risk factors in developing progressive multifocal leukoencephalopathy (PML). It does appear that the risk increases with the total number of natalizumab infusions. Patients who have not yet started a disease modifying therapy or who have been on one other than natalizumab are needed as controls to see how these biomarkers change. Patients at various stages of natalizumab treatment as well as natalizumab naïve are needed to allow for analysis of the change in potential markers over time.
An Open Label, Proof of Concept Study to Evaluate the Effects of Dalfampridine Withdrawal on Gait...
Multiple SclerosisThe purpose of this study is to determine changes on overall gait as well as in multiple gait and balance parameters after withdrawal of dalfampridine-ER 10mg in MS subjects who are receiving the medication consistently for at least two weeks prior to screening.