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Ataxia clinical trials

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NCT ID: NCT04991701 Active, not recruiting - Clinical trials for Ataxia Telangiectasia

A National Retrospective Population Based Cohort Study of the Natural History of Ataxia Telangiectasia

N-HAT
Start date: September 14, 2018
Phase:
Study type: Observational

This is a retrospective observational study of natural-history of ataxia-telangiectasia. Understanding the natural history and its variability is not only vital to planning effective patient-centred services, and counselling patients and their families, but will also inform the design of future clinical research, particularly clinical trials.

NCT ID: NCT04870866 Active, not recruiting - Clinical trials for Ataxia Telangiectasia

NAD Supplementation to Prevent Progressive Neurological Disease in Ataxia Telangiectasia

Start date: June 5, 2019
Phase: Phase 2
Study type: Interventional

The study investigates the effect of dietary supplementation of nicotinamide ribonucleoside (NR) in children with ataxia telangiectasia (AT), with main focus on neurological symptoms.

NCT ID: NCT04349514 Active, not recruiting - Friedreich Ataxia Clinical Trials

A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals With Friedreich Ataxia (TRACK-FA)

(TRACK-FA)
Start date: February 10, 2021
Phase:
Study type: Observational

This is a natural history study prospectively investigating neuroimaging markers of disease progression in children and adults with Friedreich ataxia (FA). There will be three assessment periods (baseline, 12 and 24 months). The study will include approximately 200 individuals with FA and 100 matched controls recruited across the six international academic sites. Other assessments will include secondary clinical and cognitive markers, as well as exploratory blood markers.

NCT ID: NCT04346238 Active, not recruiting - Friedreich Ataxia Clinical Trials

Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia

INTREP-AF
Start date: March 1, 2020
Phase:
Study type: Observational

Friedreich's ataxia (FA) is the most frequent recessive genetic ataxia with an estimated prevalence of 1/50 000. The first symptoms appear around the age of 10 years with a progressive course and the need for an armchair 10- 15 years after the first symptoms. More rarely the disease can present with a late onset (after the age of 25) with a picture characterized by spastic paraparesis and slower progression ("LOFA" for "Late Onset Friedreich Ataxia" or VLOFA for "Very Late Appearance of Friedreich's ataxia "). AF is caused in 96% of cases by an expansion of GAAN triplets (N> 100 repeats) located in intron 1 of the FXN gene, present on the two alleles, and, in the rest of the cases, by an associated expansion a point mutation or a deletion in trans. During molecular diagnostics, it is not uncommon to find the presence of interruptions within the GAA expansion. This results in the absence and / or the shift of peak (s) within the chromatogram. To date, only the partial correlation between the size of the expansion and the age of onset of Friedreich's ataxia has been established. In particular, very atypical forms of AF with a late onset (after the age of 25) are in particular explained by the low number of repetitions in the expansion, typically between 100 and 500 repetitions. However, the presence of an interruption could stabilize the size of the expansion and, therefore, be mainly associated with expansions of small sizes and therefore with a late onset of the disease. The objective of this study is therefore to analyse and caracterize the presence and the type of interruptions of the GAA expansions in a group of patients with FA ; this data will be correlated with the age at onset of FA.

NCT ID: NCT04268147 Active, not recruiting - Friedreich Ataxia Clinical Trials

Instrumented Data Exchange for Ataxia Study

IDEA
Start date: June 1, 2019
Phase:
Study type: Observational

This research study is testing body-worn sensors to measure movement during simple tests of coordination, in order to evaluate the progression and severity of ataxia.

NCT ID: NCT04229823 Active, not recruiting - Clinical trials for Spinocerebellar Ataxia Type 3

Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD

BIGPRO
Start date: March 28, 2017
Phase:
Study type: Observational

The study will consist of a prospective observation of subjects in a natural history design. Disease progression will be monitored through clinical scales and video-oculography. Participants will be stratified in three groups: ataxic carriers, pre-ataxic carriers and non-carriers (controls). The following clinical scales will be applied in all subjects at baseline and at months 12 and 24: SARA, SCAFI, CCFS, NESSCA, INAS and ICARS. Oculomotor function will be registered using video-oculography (EyeSeeCam, InterAcoustics) at the same time points. Progression rates, effect sizes and responsiveness to change will be established for all parameters and results will be compared between candidate biomarkers.

NCT ID: NCT03703830 Active, not recruiting - Ataxia, Cerebellar Clinical Trials

tDCS Associated With Locomotor Training on Functional Mobility of Cerebellar Ataxia

Start date: November 1, 2018
Phase: N/A
Study type: Interventional

Cerebellar ataxia is a neurologic symptom caused by a damage or a dysfunction in cerebellum and results in loss of coordination, balance and postural control. This impairment could result in a reduction of walking speed, short and irregular steps and difficulty in coordinating between lower limbs. Pharmacological interventions are not able to modify ataxia gait pattern, therefore, new approaches to rehabilitate must be studied. Treadmill locomotor training (TLT) and cerebellar transcranial direct current stimulation (ctDCS) are physical therapy techniques able to module cerebellar afferences and modify positively ataxia gait pattern. However, there is no study involving the association of these two techniques. The purpose of this study is to evaluate the effects of ctDCS associated to TLT on functional mobility in subjects with cerebellar ataxia. A randomized, sham controlled, double blind clinical trial will be performed. The subjects will be randomly allocated into two groups: (i) ctDCS associated with TLT; (ii) ctDCS sham associated with TLT. The TLT will be performed with a speed and step length progression protocol for 25 minutes. The anodal ctDCS (2 mA, 25 minutes) or sham (2mA, 30 seconds) will be applied during TLT. The functional mobility will be the primary outcome and will be evaluated through timed up and go test (TUG). Ataxia' severity, balance and fall risky, will be the secondary outcomes and will be evaluated by the scale for the assessment and rating of ataxia (SARA), balance evaluation system test (miniBest) and TUG, respectively.

NCT ID: NCT03701399 Active, not recruiting - Clinical trials for Spinocerebellar Ataxias

Troriluzole in Adult Subjects With Spinocerebellar Ataxia

Start date: March 8, 2019
Phase: Phase 3
Study type: Interventional

The purpose of this study is to compare the efficacy of Troriluzole (200mg once daily) versus placebo after 48 weeks of treatment in subjects with spinocerebellar ataxia (SCA).

NCT ID: NCT03619772 Active, not recruiting - Stroke Clinical Trials

EMG Training for Altering Activation Patterns After Stroke

Start date: June 28, 2018
Phase: N/A
Study type: Interventional

Evaluation of a new EMG controlled game to improve hand function in chronic stroke survivors.

NCT ID: NCT03487367 Active, not recruiting - Clinical trials for Spinocerebellar Ataxia Type 1

Clinical Trial Readiness for SCA1 and SCA3

READISCA
Start date: August 16, 2018
Phase:
Study type: Observational

The investigators plan to fill the gap between the current state of clinical trial readiness and the optimal one for SCA1 and SCA3, which are fatal rare diseases with no treatments. Through US-European collaborations, the investigators will establish the world's largest cohorts of subjects at the earliest disease stages, who will benefit most from treatments, validate an ability to detect disease onset and early progression by imaging markers, even prior to ataxia onset, and identify clinical trial designs that will generate the most conclusive results on treatment efficacy with small populations of patients.