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Spinocerebellar Ataxias clinical trials

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NCT ID: NCT00683943 Completed - Clinical trials for Spinocerebellar Ataxia Type I

Lithium Treatment for Patients With Spinocerebellar Ataxia Type I

Start date: May 18, 2008
Phase: Phase 1
Study type: Interventional

This study will evaluate the side effects and tolerability of the drug lithium in patients with spinocerebellar ataxia type I (SCA1) an inherited disorder caused by loss of nerve cells in parts of the brain. Symptoms include ataxia (difficulty walking) and loss of muscle coordination and strength. Recent studies suggest that lithium may be helpful in treating some SCA1 symptoms. People between 18 and 65 years of age with SCA1 who have only difficulty walking or who have difficulty walking as well as tremor, hand incoordination or speech problems, may be eligible for this study. Participation requires three hospital admissions at the NIH Clinical Center and one outpatient visit. Participants undergo the following tests and procedures: Admission 1 (2-6 weeks) - Medical history, physical examination, blood and urine tests, electrocardiogram. - Evaluation of SCA1 symptoms (balance, walking, dexterity, tremor, memory, mood and concentration). - Monitoring of liquid intake and output (urine) and weight changes. - Lithium treatment Start treatment and remain in hospital until the blood level of the drug is stabilized; continue treatment at home after hospital discharge. Admission 2 (2-4 days, 4 weeks after hospital discharge). - Repeat of some or all of the procedures done at the first admission. - Continue lithium in hospital and at home after discharge, with local physician checking laboratory values as needed. Admission 3 (2-4 days, 8 weeks after Admission 2). - Repeat of some or all of the procedures done at other admissions. - Stop lithium. Outpatient Visit (4 weeks after Admission 3) - Evaluation of SCA1 symptoms. - Blood and urine tests.

NCT ID: NCT00654251 Completed - Clinical trials for Spinocerebellar Ataxia

Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias

Start date: February 2008
Phase: N/A
Study type: Observational

Measuring the various difficulties patients with spinocerebellar ataxias (SCA) report in an accurate manner is important to be able to test any therapy that may be developed. As basic research identifies some therapy of this type, clinicians are planning studies that can either prove or disprove that such treatments actually have an effect. Walking problems and problems with eye movements that can give rise to visual complaints are common in the SCA's. Existing neurological scales such as the "SARA" are based on the usual neurological examination items that can carry a degree of subjective bias. Also the intervals between numbers on such scores often do not carry the same "weight" so that the difference between a score of 1 and 2 may not be equal to difference between 2 and 3. Lastly, such scales done in the clinic setting capture only a brief period of a patient's day. We propose that examination of home based gait monitoring, timed tests of motor function and quantitative measures of visual problems in patients with SCA are more useful in measuring the disability in these patients.

NCT ID: NCT00136630 Completed - Clinical trials for Spinocerebellar Ataxias

Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations

Start date: May 2005
Phase:
Study type: Observational

The autosomal dominant spinocerebellar degenerations are a highly heterogeneous, clinically and genetically, group of rare diseases and of severe evolution. So far, the responsible genes for less than 50% of the cases are known and because of their rarity, there are no phenotype-genotype correlations and well-defined disease history. The aims of the project are to develop and validate quantitative tools of the cerebellar syndrome and of the spasticity, to establish links between the phenotype and the result of the molecular analysis, to identify new loci/genes responsible for these disorders, and to establish the natural history of the disease according to the genotype. To this end, a prospective and multicentric study is proposed for recruiting and evaluating, clinically, a cohort of 225 patients; 150 of them are already followed-up in the centers involved. A DNA collection will be set up in order to search for the implication of new loci and genes. A clinico-genetic database will be set up combining data from successive clinical evaluations and those of genotyping. This strategy will allow access to genetic counselling and molecular diagnosis (positive, presymptomatic or prenatal diagnoses), based on a rational strategy from phenotype-genotype correlations and the information concerning the relative frequency of the genes. The detailed description, with the help of new evaluation tools and of the follow-up of the natural history of the disease according to the genotype, constitutes a crucial step in the design of therapeutical trials in these orphan disorders. Furthermore, the regular follow-up by specialized centers will allow better care of the patients.

NCT ID: NCT00034242 Completed - Clinical trials for Spinocerebellar Degenerations

High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration

Start date: April 2002
Phase: Phase 2
Study type: Interventional

This study will examine whether high-dose intravenous immunoglobulin (IVIG) is safe and effective for treating cerebellar ataxia-degeneration of the cerebellum, the part of the brain responsible for coordinating muscle movements and balance. The disease causes a slowly progressive impairment of speech and balance, with patients often developing slurred speech, tremor, clumsiness of the hands, and walking difficulties (ataxia). IVIG is derived from donated blood that has been purified, cleaned and processed into a form that can be infused. IVIG is an immune suppressant that is routinely used to treat other neurological conditions. Patients 18 years of age and older with hereditary (genetic) or sporadic (unknown cause) cerebellar degeneration may be eligible for this 5-month study. They must have evidence of an immune component to their condition, such as gluten sensitivity or antiganglioside antibodies. Candidates will be screened with a neurological examination, a review of medical records and possibly blood tests. Participants will be randomly assigned to receive infusions of either IVIG or placebo (an inactive substance) through an arm vein once a month for two months. The infusions will be given in the hospital in doses divided over 2 days, each lasting 6 to 10 hours. Before the infusions, patients will undergo ataxia assessments through tests of coordination and balance that may involve finger tapping, walking in a straight line, talking, and eye movements. When the treatment is finished, patients will be followed in the clinic once a month for 3 months for blood tests repeat ataxia assessments to evaluate the effects of treatment.

NCT ID: NCT00004306 Completed - Hereditary Ataxia Clinical Trials

Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

Start date: November 1999
Phase: N/A
Study type: Observational

OBJECTIVES: I. Clinically evaluate members from families with a dominantly inherited ataxia and collect blood, skin and muscle samples for detailed molecular studies. II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.