4-Aminopyridine in Episodic Ataxia Type 2
Episodic Ataxia Type 2Episodic ataxia type 2 (EA2) is a rare familial neurological condition characterized by debilitating episodes of vertigo and imbalance. Since the serendipitous discovery of dramatic response of EA2 to acetazolamide, acetazolamide has been the first-line treatment for EA2. Yet, for those patients who do not respond to or cannot tolerate acetazolamide, there is no alternative treatment. The purpose of this randomized trial is to test whether 4-aminopyridine may reduce the ataxia episodes in EA2 as an alternative to acetazolamide. Funding Source - FDA OOPD
Fall Prevention in a Geriatric Nursing Home Setting Using the Music of Nolwenn Leroy
AtaxiaFalls are the largest cause of death in the elderly and those with dementia have even a higher incidence of falling. The purpose of this study is to determine whether listening to the Music of Nolwenn Leroy is effective in fall prevention in those elderly patients who are residents in a Geriatric Nursing Home Facility. The music of Nolwenn Leroy has been shown to be effective in fall reduction in a different setting (Posturographic Changes and Fall Prevention associated with Music Therapy: The Nolwenn Effect (USA ClinicalTrials.gov Identifier: NCT00121693) )with results better than listening to Mozart of any other music.
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.
Levator Hiatal Dimensions and Mode of Delivery
Pelvic Floor; RuptureChildbirth Problems1 moreThe aim of this observational study is to learn about how muscle dimensions of the pelvic floor measured during pregnancy in primigravida impact birth mecanics and mode of delivery. Tha main aims are to 1. Explore associations between mode of delivery and hiatal dimensions measured by transperineal ultrasound antenatally and 2. Explore the association between duration of 2nd stage of labour and hiatal dimensions. A pelvic floor ultrasound examination will be performed between pregnancy week 12 and 20 and levator ani muscle hiatal dimensions will be compared between women having a normal vaginal delivery and women with emergency cesarean or operative vaginal deliveries.
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.
Pilot Study of Ejaculatory Dyssynergia by Electronic Microsensors of Sphincters
Spinal Cord DiseasesDisorder of EjaculationThe objective of this research is to study the sphincter activity during ejaculation in patients with spinal cord injury in order to detect an ejaculatory dyssynergia. For this purpose, using a catheter the protocol plans to measure the sphincter pressures during ejaculation. Moreover, cardiovascular parameters will be measured continuously during the ejaculatory test.
Body Composition and Hormonal Status in Ataxia Telangiectasia
Ataxia TelangiectasiaAtaxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility. In addition to that, a high percentage of patients show dystrophy, growth retardation and poor weight gain. Nevertheless, there are only a few studies assessing this problem. Aim of the present proposal is to investigate the exact body composition, manual muscle strength and hormonal status in patients with A-T compared to healthy controls matched for gender and age. A pelvic sonography in females was performed in order to evaluate the sexual maturity of their inner genitalia. Tanner score was determined to define the physical development. Every subject received a nutritional diary to review its calorie intake and the quality of diet. The investigators expect that the A-T cohort shows an altered body composition, impaired muscle strength, changed hormonal status concerning the sexual hormones and a delayed physical development compared to healthy controls.
NAD+ Precursor Supplementation in Friedreich's Ataxia
Friedreich AtaxiaThe primary objective is to test the safety and tolerability of short-term therapy with a nicotinamide adenine dinucleotide (NAD+) precursor (MIB-626) in adults with Friedreich's Ataxia (FA) without overt heart failure and with a left ventricular ejection fraction ≥ 40%. A key secondary objective is to test the effects of MIB-626 on cardiac and skeletal muscle bioenergetics.
Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia
Friedreich AtaxiaThe purpose of this protocol is to determine the efficacy of EGb 761 120 mg bid versus placebo in patients suffering from Friedreich Ataxia