View clinical trials related to Spinocerebellar Degenerations.
Filter by:This study evaluates the effectiveness of oral trehalose in alleviating the neuropathological and motor behaviour deficits among patients with SCA3. A total of 40 participants with SCA3 will be recruited, with 20 participants to be administered with trehalose while another 20 participants to be administered with a maltose placebo.
The purpose of the research is to better understand the motor behavior of individuals in health and disease. The specific purpose of this project is to identify if we can utilize a smartphone to diagnose different movement disorders and monitor their symptoms. A. Objectives 1. Estimate symptom severity of Essential tremor (ET), Parkinson's disease (PD), Huntington's disease (HD), Primary focal dystonia (PFD), spinocerebellar ataxia (SCA), and Functional movement disorders (FMD) using a smartphone-based application 2. Differentiate individuals with the different movement disorders from healthy controls based on features from the smartphone data 3. Differentiate individuals with a specific movement disorder from people with other movement disorders based on features from the smartphone data B. Hypotheses / Research Question(s) We hypothesize that we can estimate the severity of symptoms using a smartphone application and that, using those estimates, we can differentiate individuals with movement disorders from healthy controls and from people with other movement disorders.
Spinocerebellar ataxias (SCA) 1, 2, 3 and 6 are the most common, autosomal dominantly inherited cerebellar degenerations. And in the Chinese population, the most common SCA is SCA3 and the frequency of SCA 3 among SCA patients is 72.5%, followed by SCA 2 that the frequency is 12% among SCA patients. For SCA 1, the frequency among SCA patients is 7%. Even SCAs are rare diseases, a significant amount of Chinese in Hong Kong still suffer from this disorders. SCA Association in Hong Kong has 88 members who are suffering from spinocerebellar degeneration, many of them have a genetic confirmation. As there are few treatments for SCAs; therefore, understanding SCAs clinical manifestation and disease mechanisms are the first step towards development of effective treatment. The objective of this study is to develop the first SCA registry in Hong Kong with bio-repository bank for clinical and genetic information as well as serum and fibroblasts.
This is a piloting study using continuous motor training provided via whole body-controlled video games (exergames) to establish proof-of-concept evidence that such training leads to motor and neural changes in pre-manifest subjects with spinocerebellar ataxias (SCA).
Background: Spinocerebellar ataxia type 7 (SCA7) is disease in which people have problems with coordination, balance, speech and vision. It is caused by a change in the ATXN7 gene. A mutation in this ATXN7 gene causes changes in eye cells, which can lead to vision loss. There is no cure for SCA7 but researchers are looking for possible treatments. Researchers need more information about SCA7. They want to collect vision and neurology related data from people with SCA7. They want to learn how and what changes in the eye and brain when the ATXN7 gene isn t working properly. Objective: To learn more about SCA7 and its progression. Eligibility: People ages 12 and older with SCA7. Design: Participants will be screened with medical history and genetic testing from a previous National Eye Institute study or their personal physician. Participants will have at least 7 visits over 5 years. They will have 2 visits during the first week of the study. Then they will be asked to come back every year for the next 5 years. Each visit will last several days and will include: - Medical and eye history - Several eye tests: some will include dilating the pupil with eye drops and taking photos or scans of the eyes. - Electroretinography (ERG): Participants will sit in the dark with their eyes patched for 30 minutes. After this, the patches will be removed and contact lenses put into the eyes. They will watch flashing lights and information will be recorded. - Neurological exams: Sensation, strength, coordination, reflexes, attention, memory, language, and other cognitive functions will be tested. - Brain MRI: They will lie in a machine that takes pictures of the brain. - Blood and urine tests - Optional skin biopsy: About 3 millimeters of skin will be removed for more research testing; this is half the size of a pencil eraser.
The key goals of EUROSCA-NHS is to determine and compare the rate of disease progression in SCA1, SCA2, SCA3 and SCA6 including determination of the order and occurrence of non-ataxia symptoms, assessment of activities of daily living (ADL) and quality of life (QoL), and identification of predictors of disease progression and survival.
The purpose of this study is to learn how Intravenous Immune Globulin (IVIG) will affect Spinocerebellar Ataxia (SCA) symptoms and how it will affect motor and nervous system function in participants Subtypes of SCA to be examined will include SCA types 1, 2, 3, 6, 10 and 11.
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA-3) is the most common dominant ataxia. The genetic cause of this late-onset degenerative disorder is the expansion of a (CAG)n tract located in the exonic region of the ATXN3 gene. In 1994 the first case of MJD among the Yemenite Jewish subpopulation living in Israel was published. The puropse of this study is to describe the clinical phenotype and genotype of the Yemenite Jewish subpopulation with MJD living in Israel
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.
The Hereditary Ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Current treatments for Hereditary Ataxias are mainly pharmacological, rehabilitative, or psychological treatments，while no effective treatment available. Stem Cell therapy is a novel and promising therapeutic strategy for Hereditary Ataxias treatment. In this study, the safety and efficacy of Human Umbilical Cord Mesenchymal Stem Cells transplantation will be evaluated in patients with Hereditary Ataxias.