Clinical trials: Hereditary Ataxia
Friedreich's Ataxia
Biomarkers in Friedreich's Ataxia
The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic…
- Trial name
- NCT02497534
- Where
- United States
- Volunteers
- 203 people, healthy volunteers welcome
- Sponsor
- University of Florida
Spinocerebellar Ataxia (SCA)
Electrical Stimulation Cycling Training Effects on SCA
To focuses on the challenges faced by individuals with spinocerebellar ataxia (SCA), highlighting the major clinical sign of ataxia that affects their stability and ability to perform daily activities, thereby impacting their…
- Trial name
- NCT06363058
- Testing
- ES Cycling Training
- Where
- Taiwan
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- Chang Gung University
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease
Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes
The study will consist of a prospective observation of subjects in a natural history design. The investigators will monitor changes of clinical scales, quality of life, messenger ribonucleic acid (mRNA) of candidate genes (CCL11…
- Conditions
- Spinocerebellar Ataxia Type 3, Machado-Joseph Disease, SCA3, MJD
- Trial name
- NCT04419974
- Testing
- Molecular Diagnosis, Clinical Scales - Baseline, Blood Draw - Baseline
- Where
- Brazil
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Friedreich Ataxia
Early and Longitudinal Assessment of Neurodegeneration in the Brain and Spinal Cord in Friedreich's Ataxia
Friedreich's ataxia is characterized by progressive alterations in the function of the cerebellum accompanied by an atrophy of the spinal cord.
- Trial name
- NCT01776164
- Where
- United States
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Spinocerebellar Ataxias, Spastic Paraplegias
Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
The autosomal dominant spinocerebellar degenerations are a highly heterogeneous, clinically and genetically, group of rare diseases and of severe evolution.
- Trial name
- NCT00136630
- Where
- 8 sites in France
- Volunteers
- 175 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Friedreich Ataxia, Rare Diseases
Understanding the Natural History Early in the Course or Presentation of Friedreich Ataxia
Multicenter, prospective, observational natural history and outcome measure study of children and young adults with Friedreich ataxia.
- Trial name
- EARLY-FA (NCT06560346)
- Testing
- Geneticlly confirmed disease causing FXN mutatuion, Healthy Control
- Where
- 7 sites in United States, Australia and 3 more
- Volunteers
- healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Biomarkers in Autosomal Dominant Cerebellar Ataxia
Autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders that are clinically and genetically various.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia, Autosomal Recessive 3, Episodic Ataxia, Type 7
- Trial name
- BIOSCA (NCT01470729)
- Testing
- metabolic and imaging biomarkers in SCA1,2,3 and 7 patients
- Where
- France
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
Ataxia Telangiectasia, Dysmetria
Videoocular Assessment of Eye Movement Activity in an Ataxia Telangiectasia
Ataxia-telangiectasia (A-T) is a multisystem auto-somal recessive disorder linked to the A-T mutated gene (ATM) on chromosome 11q22-23, and characterized by progressive neural degeneration, immunodeficiency, and progressive…
- Trial name
- NCT05471310
- Where
- Russia
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Federal Research Institute of Pediatric Hematology, Oncology and Immunology
Ataxia Telangiectasia
Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02285348
- Testing
- Lumbar puncture
- Where
- Germany
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Spinocerebellar Ataxia
The Study of Transcranial Magnetic Stimulation in the Regulation of Spinocerebellar Ataxia
Spinocerebellar ataxia (SCA) is a group of hereditary neurological diseases caused by gene mutations leading to degenerative changes in the cerebellum, brainstem, and spinal cord.
- Trial name
- NCT06904716
- Testing
- Transcranial magnetic stimulation
- Where
- China
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- First Affiliated Hospital of Chongqing Medical University
Healthy
Use of Real-Time Functional Magnetic Resonance Imaging Neurofeedback to Improve Motor Function in Cerebellar Ataxia
This project will study the feasibility of motor rehabilitation in people with cerebellar ataxia using real-time functional magnetic resonance imaging neurofeedback (rt-fMRI NF) in conjunction with motor imagery.
- Trial name
- fMRI (NCT05436249)
- Testing
- Neurofeedback treatment, At-home therapy
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Mitochondrial Disorders, Mitochondrial Genetic Disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes
- Trial name
- NAMDC (NCT01694940)
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Spinocerebellar Atrophy (SCA)
The Investigation of the Pre-movement Facilitation of Agonist-antagonist Muscles and the Effect of the Feedforward Rehabilitation in Individuals With Hypermetria
In individuals with spino-cerebellar atrophy (SCA), the delayed onset of antagonist muscle firing has been reported to be the cause of hypermetria.
- Trial name
- NCT01983670
- Testing
- Temporal electrical stimulation
- Where
- Taiwan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Chang Gung University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Instrumented Data Exchange for Ataxia Study
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.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- IDEA (NCT04268147)
- Where
- 5 sites in United States
- Volunteers
- 128 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Friedreich's Ataxia
A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)
Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM).
- Trial name
- NCT02840669
- Testing
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiography (ECHO)
- Where
- France
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Adverum Biotechnologies, Inc.
Inherited Movement Disorders, Spinocerebellar Ataxias
Biomarker Research in Inherited Movement Disorders
Inherited movement disorders are rare conditions, whose cumulative prevalence are in the order of 5-10/100,000 inhabitants, in most cases progressive and can lead to a significant loss of autonomy after one or more decades of…
- Conditions
- Inherited Movement Disorders, Spinocerebellar Ataxias, Hyperkinetic Disorders
- Trial name
- BIOMOV (NCT05034172)
- Testing
- Clinical follow-up
- Where
- France
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease
Neuropsychiatry and Cognition in SCA3/MJD
This research investigates how cognitive-affective aspects evolve during the course of SCA3/MJD. Due to COVID-19 pandemics, this study protocol was adapted for online-only consultations.
- Conditions
- Spinocerebellar Ataxia Type 3, Machado-Joseph Disease, SCA3, MJD
- Trial name
- NCT04714307
- Testing
- SCA3/MJD molecular diagnosis, Cognitive Testing, Psychiatric Evaluation
- Where
- Brazil
- Volunteers
- 144 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Spinocerebellar Ataxia 3
Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3
There are no clinically established treatments which have been proven to delay the disease progression in spinocerebellar ataxia (SCA) 3.
- Trial name
- NCT04426149
- Testing
- trehalose
- Where
- Malaysia
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- National University of Malaysia