Open-label Extension (OLE) Study of WVE-004 in Patients With C9orf72-associated Amyotrophic Lateral...
ALSFTDThis is an OLE study conducted to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and clinical effects of WVE-004 in adult patients with ALS, FTD, or mixed ALS/FTD phenotype with a documented mutation in the C9orf72 gene. To participate in the study, patients must have successfully completed Phase 1b/2a WVE-004-001 study.
Open-Label Study of Leuco-methylthioninium Bis(Hydromethanesulfonate) (LMTM) in Subjects With Alzheimer's...
Alzheimer's DiseaseBehavioral Variant Frontotemporal DementiaThe purpose of this study is to provide subjects who have completed participation in a Phase 2 or Phase 3 trial of LMTM continued access to therapy and to evaluate the long-term safety of LMTM.
Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency...
Acid Sphingomyelinase DeficiencyNiemann-Pick DiseaseThe purpose of this study is to determine the safe range of single doses of rhASM administered to adults with ASM deficiency.
BIIB092 in Primary Tauopathies: CBS, nfvPPA, sMAPT, and TES
Primary TauopathiesCorticobasal Degeneration Syndrome6 moreA Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Parallel Cohort Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy Study of Intravenously Infused BIIB092 in Patients with Four Different Primary Tauopathy Syndromes
Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia
Primary Progressive Nonfluent AphasiaNonfluent/agrammatic variant primary progressive aphasia (nf/avPPA) is a fatal neurodegenerative disease that begins with isolated language deficits. There is currently no cure or treatment for this disease. Repetitive Transcranial Magnetic Stimulation (rTMS), a noninvasive neuromodulatory technique, is effective in major depression, and studied in many other conditions including nf/avPPA. Here the investigators propose to study the feasibility and change in language and brain function of a newer rTMS protocol (intermittent theta-burst stimulation, iTBS) using a randomized, blinded crossover design: participants will receive active or sham iTBS for two weeks and then switch groups without them or clinicians knowing their group. The investigators hypothesize that brain function and performance with language tasks will change after active iTBS.
Clinico-Pathologic-Genetic-Imaging Study of Neurodegenerative and Related Disorders
PSPCBD10 moreThe investigators aim to learn more about symptoms suggestive of a neurodegenerative process.
Explore Biomarkers of Motor Neuron Disease/Frontal Dementia Spectrum Disease in China
Amyotrophic Lateral SclerosisFrontotemporal Dementia1 moreTo investigate the biomarkers of MND/FTD spectrum disease To explore the possible pathogenesis of MND/FTD
Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular...
Amyotrophic Lateral SclerosisFrontotemporal Dementia9 moreThe investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes that may be associated with them. There have been a number of genes identified that are associated with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% of families with FALS, the gene(s) are still unknown. The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS.
Voices Of Individuals: Challenges and Experiences Of bvFTD
Frontotemporal DementiaFrontotemporal Degeneration3 moreThe VOICE Of bvFTD study is a telephone interview research study about life with or at risk for behavioral variant frontotemporal dementia (bvFTD). The study aims to understand how bvFTD impacts individuals' day to day lives, how people think about themselves, and what challenges they face.
Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Amyotrophic Lateral SclerosisFrontotemporal Dementia4 moreThe goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.