Induced Pluripotent Stem Cells for Niemann Pick Disease
Niemann-Pick DiseasesEstablishment of individualized human cellular disease models based on induced pluripotent stem cells that reflect the broad heterogeneous phenotypic spectrum of Niemann Pick disease
Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
Niemann-Pick DiseaseType CNiemann-Pick Disease, Type C (NPC) is a rare neurodegenerative disorder with a wide clinical spectrum and variable age of onset. Classically, children with NPC demonstrate neurological dysfunction with cerebellar ataxia (an inability to coordinate balance, gait, extremity and eye movements), dysarthria (difficulty speaking), seizures, vertical gaze palsy (ability to move eyes in the same direction) motor impairment, dysphagia (trouble swallowing), psychotic episodes, and progressive dementia. There is no curative treatment for NPC and it is a lethal disorder. The purpose of this protocol is to obtain both baseline and rate of progression data on a clinical and biochemical markers that may later be used as outcome measures in a clinical trial. Specifically, this study will examine and characterize the longitudinal progression of neurocognitive symptoms of NPC with the goal of identifying early markers of disease progression that may be utilized in later trials to evaluate treatment efficacy.
Treatment Study of Frontotemporal Dementia
Frontotemporal Lobar DegenerationObjectives. The proposed clinical study has two goals: First, to assess the efficacy of a central nervous system stimulant and an atypical antipsychotic in treating the behavioral symptoms of FTD and second, to further characterize the biological markers, including genetic, imaging, and CSF proteins, of FTD in relation to our existing group of Alzheimer's patients. Rationale. Frontotemporal dementia (FTD) is increasingly recognized as an important neuropsychiatric disorder. Symptoms of FTD include disinhibition, impulsivity, apathy, affective lability, and language dysfunction. The clinical syndrome is associated with frontal and/or anterior temporal atrophy on imaging and autopsy. Levels of the CSF proteins tau and (Beta)-amyloid 1-42, shown to have diagnostic utility in patients with Alzheimer's Disease (AD), have also been found to be abnormal in FTD. FTD is less associated with APOE genotype than AD, however some familial cases of FTD are associated with specific mutations in the gene encoding the tau protein. Currently, no treatments have been proven to be effective for altering the course or clinical symptoms of FTD. Design. Study subjects will include 50 male and female patients with mild-moderate frontotemporal dementia recruited from participants in NINDS protocol 02-N-0001. In a double-blinded crossover 11-week study without a placebo control, patients will be treated with a stimulant (dextroamphetamine) and an atypical antipsychotic (quetiapine). The primary outcome measures will be the Neuropsychiatric Inventory and the Clinical Global Impression of Change. Cerebrospinal fluid, cognitive and genetic measures, brain MRIs, and side effects scales will also be collected.
Genetics of Familial and Sporadic ALS
Amyotrophic Lateral Sclerosis (ALS)Familial Amyotrophic Lateral Sclerosis5 moreWe are collecting blood samples, clinical and family information from ALS (amyotrophic lateral sclerosis) patients and their families to identify causes of ALS and ALS/dementia.
RHAPSODY-plus: Online Counseling for Family Caregivers of Patients With Young Onset Dementia
Early Onset Alzheimer DiseaseFrontotemporal DementiaThe RHAPSODY-plus project consists of two parts. In a first step carers of people with young onset dementia (YOD; onset before the age of 65) have the opportunity to use the RHAPSODY online program (Kurz et al., 2016) to inform themselves about different topics on young onset dementia. In a second step the participants will receive two individual counseling sessions via MEET (online videoconferencing) with a social worker and a psychologist. Goal is to investigate whether these counseling sessions have an additional benefit.
Florbetaben PET Imaging in PPA
Primary Progressive AphasiaAlzheimer DiseaseThe purpose of this research is to better understand how dementia affects activity in different parts of the brain.
The Ontario Neurodegenerative Disease Research Initiative
Alzheimer DiseaseAmyotrophic Lateral Sclerosis3 moreThe Ontario Neurodegenerative Disease Research Initiative (ONDRI) is a province-wide collaboration studying dementia and how to improve the diagnosis and treatment of neurodegenerative diseases including: Alzheimer's disease (AD) Parkinson's disease (PD) amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) frontotemporal lobar degeneration (FTD) vascular cognitive impairment, resulting from stroke (VCI)
SAMi Intervention Study to Evaluate Smartwatch Interventions in Persons With MCI and Dementia
DementiaMild Cognitive Impairment7 moreAssistive Technologies (ATs) can help people living with dementia (PwD) maintain their everyday activity. Still, there is a gap between potential and supply. Involving future users can close the gap. But the value of participation from PwD is unclear. The study examined smartwatch interactions from people with dementia or with mild cognitive impairment. Participants received "regularly" (n=20) or "intensively" (n=20) intrusive audio-visual prompts on a customized smartwatch to perform everyday tasks. Participants' reactions were observed via cameras. Users' feedback was captured with questionnaires.
Connectomics in Psychiatric Classification
DementiaDementia Alzheimers2 moreWashington University Early Recognition Center is conducting a research study to examine brain functional connectivity and network patterns in participants with dementia.
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
Niemann-Pick DiseaseType CThis is a prospective non-therapeutic observational study in NP-C patients. The aim is to characterize the individual patient disease progression profile through the historical and 6 months prospective evaluation of clinical, imaging, biological(biomarkers) and quality of life data. Patients will be offered enrollment into a Phase II/III study on arimoclomol at the end of the study.