View clinical trials related to Aphasia, Primary Progressive.
Filter by:Background: - Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future. Objectives: - To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD. Eligibility: - Adults over age 18 who have this genetic mutation Design: - Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits. - At each visit, participants will undergo a series of brain, language, and behavior tests. These will include: - Magnetic resonance imaging (MRI) of the brain. This uses magnets, radio waves, and computers to produce detailed pictures of the brain. - Collecting spinal fluid. The clinician will make the participant s back numb and then insert a needle to collect fluid. <TAB>- Blood samples will be taken. <TAB>- Participants will be asked to perform several language and movement tests. <TAB>- Small skin samples will be taken on one visit - Between visits, participants will answer questions about their health over the phone 3 times.
Niemann-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.
Study 18F-AV-45-010 is designed to evaluate the cerebral uptake of florbetapir 18F as measured by PET imaging in frontotemporal disorder (FTD) in comparison to cognitively normal volunteers and subjects with Alzheimer's disease (AD).
The study is designed to determine the relationship between structural and functional changes in the brain on imaging and progression of speech and language, neurological and neuropsychological features in patients with neurodegenerative apraxia of speech (AOS).
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
To evaluate the changes in cognitive function after miglustat treatment in Niemann-Pick type C patients.
Background: - Hydroxypropyl beta cyclodextrin (HPBCD) is being tested for a disease called Niemann-Pick disease type C1 (NPC1). NPC1 is a genetic disorder that results in gradual loss of nervous system function. Cholesterol and other fats have trouble moving out of the brain cells, which makes the cells work poorly and leads to symptoms. There is no treatment currently approved in the US for NPC1. Researchers want to test if it is safe to use HPBCD for NPC1. They want to see if it can help brain cells process cholesterol better. Objectives: - To test the safety and effectiveness of HPBCD for NPC1. Eligibility: - Individuals between 2 and 25 years of age who have been diagnosed with NPC1 and who have not already received HPBCD in an attempt to treat NPC1. Design: - Participants will be screened with a physical exam and medical history. They will provide blood and urine samples for screening. They will also have neurological tests, including tests of hearing, speech and movement. - Participants will have a lumbar puncture (also called a spinal tap) every month to deliver the drug to the spinal fluid that surrounds the brain. The length of the trial will be determined by the safety and efficacy information that is obtained. - Treatment will be monitored with frequent blood and urine tests, cerebral spinal fluid tests, hearing and neurological exams.
Background: - Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia. Alzheimer s disease is the most common. Alzheimer s disease happens most often in the elderly, but FTD typically appears between 40 and 60 years of age. It also has a strong genetic component: Up to 40% of FTD cases are linked to positive family histories. Earlier diagnoses and genetic tests mean that people with FTD will spend more years in earlier stages of disease, aware that they have it. However, few studies have looked at the personal experiences or coping styles of people with FTD. Researchers want to interview people with FTD and their caregivers to understand their experiences with the disease. This information will help create better treatments and therapies for those affected by FTD. Objectives: - To study the experiences of persons with FTD and their primary caregivers. Eligibility: - Individuals at least 18 years of age who have been diagnosed with FTD. - Primary caregivers (spouse or partner at least 18 years of age) of individuals who have been diagnosed with FTD. Design: - Before FTD participants are recruited, a pilot study will test the interview questions. This pilot study will be given to people with Alzheimer s disease and their caregivers. It will study how well people with dementia understand the interview questions. - FTD study participants will be recruited through dementia care centers. - All participants will have in-person interviews. These interviews will take up to 1 hour. - Participants with FTD will answer questions about their experience with the disease. They will talk about their mental abilities, challenges, and coping strategies. - Caregivers will answer questions about their experience in caring for someone with FTD. They will talk about their challenges and coping strategies. They will also talk about the person with FTD, and how aware they believe that the person is of the dementia symptoms. - All participants will receive a small gift card as compensation for their time. - No treatment will be provided as part of this study.
The study is designed to assess the demographic, clinical and imaging associations with the presence of microbleeds in atypical Alzheimer's disease. The primary hypothesis is that cognitive and functional performance will be poorer in atypical Alzheimer's subjects with microbleeds compared to those without microbleeds.
The purpose of this study is to demonstrate the safety and efficacy of TRx0237 in the treatment of patients with behavioral variant frontotemporal dementia (bvFTD).