Longitudinal Assessment of Atypical Tripeptidyl Peptidase 1 Enzyme Deficiency Patients
Neuronal Ceroid-LipofuscinosesNeuronal Ceroid Lipofuscinosis CLN22 moreThe purpose of this study is to gather information on the possible symptoms that patients with atypical neuronal ceroid lipofuscinosis type 2 (also known as aTPP1 or atypical tripeptidyl peptidase deficiency) have and how they change over time.
Dalfampridine and Gait in Spinocerebellar Ataxias
Spinocerebellar Ataxias Type 1Spinocerebellar Ataxias Type 22 moreInvestigators expect there will be improvement in walking speed and steadiness after taking Dalfampridine, thereby improving activities of daily living and enhancing social and occupational functions for patients with spinocerebellar ataxia.
Study of CAD-1883 for Spinocerebellar Ataxia
Spinocerebellar AtaxiasSpinocerebellar Ataxia Type 18 moreThis is a randomized, double-blind, placebo-controlled Phase 2 study evaluating oral administration of CAD-1883 in the treatment of adults with a genotypic diagnosis of Spinocerebellar Ataxia (SCA). This study offers the opportunity to understand the safety, tolerability, and efficacy of CAD-1883 in the SCA patient population.
Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3
Spinocerebellar Ataxia Type 3DESIGN: Pilot, Phase II, double-blind, placebo-controlled study JUSTIFICATION: In the literature one does not find a pharmacological treatment that changes the natural history of Spinocerebellar ataxtia type 3 (SCA3). Patients with this disease invariably become dependent. OBJECTIVES I. To determine safety and tolerability of phenylbutyrate in patients with SCA3. II. To provide early subsidies on the efficacy of phenylbutyrate in SCA3. DURATION: 12 months of a double-blind study. PLACE OF REALIZATION: Hospital de Clínicas de Porto Alegre, Brazil. NUMBER OF PATIENTS: 20 patients. CONCOMITANT MEDICATIONS: There are no concomitant medications that are prohibited unless they affect safety parameters of this study (hemogram and platelets; fasting serum glucose, AST, ALT, Gamma-GT, Bilirubins, Prothrombin time, Creatinine, Urea, Na, K, chlorides and arterial gasometry; electrocardiogram and echocardiogram). MEDICATIONS UNDER INVESTIGATION: Powdered sodium phenylbutyrate in sachets containing each 3g. At the start of the study, the dose will be 15g/day (five sachets) and may be reduced in case of mild adverse events. OUTCOMES Primary safety outcome: The number of adverse events, interruptions and dose reductions in the two groups (cases and controls). Efficacy outcomes: Efficacy outcomes are the following scores in both groups: NESSCA, SARA, Barthel, BDI, and WHOQol.
Laryngeal Adaptation for Speech and Swallowing
StrokeSpinocerebellar Ataxia3 moreThis study will test laryngeal adaptation in speech and swallowing function in healthy adults, in patients with cerebral stroke, and in patients with spinocerebellar ataxia type 6. The findings from this proposal will be the first step toward implementing rehabilitation techniques that help patients to prevent speech and swallowing errors before they occur.
A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
Spinocerebellar DegenerationThe purpose of this study is to evaluate the safety, efficacy, and pharmacokinetics of KPS-0373 in SCD patients (Experience of clinical trials of KPS-0373)
A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
Spinocerebellar DegenerationThe purpose of this study is to evaluate the long-term safety, efficacy, and pharmacokinetics of KPS-0373 in SCD patients
Could Tai-chi Help Maintain Balance of Spinocerebellar Ataxia Patients
Spinocerebellar AtaxiasTai ChiSpinocerebellar atrophy is the most common autosomal dominant inherited ataxia. There are over thirty subtypes, which characterize neurologic features differently. They all have obvious substantial cerebellar atrophies in image, and unstable gait、ataxia. In general a prevalence of about three cases per 100 000 people is assumed, but this may be an underestimate. Progressive neurologic degeneration, in about 10-20 years, will leads to disability or wheelchair-dependent. Accompanying with fatigue, downhill course of the disease often made patients depressive and hopeless. The recent review of researches concludes no effective therapy for the disease. The purpose of the investigator's study is to explore the Tai-chi exercise effect for spinocerebellar ataxia.
An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
Spinocerebellar DegenerationThe purpose of this study is to evaluate the long-term safety, efficacy, and pharmacokinetics of KPS-0373 in SCD patients.
Riluzole in Patients With Spinocerebellar Ataxia Type 7
SCA7Spinocerebellar ataxia type 7 (SCA7) belongs to the dominant forms of inherited cerebellar ataxias (CA), being one of the rarest form. SCA7 has no therapeutic options, so that the relentless course, the important visual deficit that accompanies CA, and the possibility of disease development in childhood are pressing unmet needs. The investigators published encouraging data on riluzole in inherited CA other than SCA7. These results prompted off-label use of riluzole in single cases of SCA7 in Italy and United States, suggesting possible efficacy of the drug in this condition.