Clinical trials: Dyssynergia
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
Amyotrophic Lateral Sclerosis
Relationship Between Neurological Disability and Visual Impairment in Patients With ALS or Friedreich's Ataxia
The aim of this study is to obtain an early biomarker of amyotrophic lateral sclerosis and Friedreich's Ataxia which allows to diagnose the disease in an initial stage and to follow up the patient with optic coherence tomography…
- Trial name
- NCT03285204
- Where
- Spain
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Jose Luis Urcelay Segura
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
Cerebellar Ataxia
A Registered Cohort Study on Cerebellar Ataxia in the Organization in South-East China for Cerebellar Ataxia Research (OSCCAR)
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements.
- Trial name
- NCT04010214
- Testing
- No intervention
- Where
- China
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Ning Wang, MD., PhD.
Hypertension, FXTAS
Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia
To study whether heart rate variability training and respiratory coherence can improve hypertension in individuals with FXTAS. All patients will receive HRV biofeedback training for 20 sessions.
- Trial name
- NCT03816540
- Testing
- HRV and respiratory coherence biofeedback
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of California, Davis
Parkinson Disease, Ataxia
Rhythmic Entrainment in Bilingual Speakers With Dysarthria
The objectives of this study are to determine i) the effect of rhythmic entrainment of speech with hand gestures and auditory rhythmic cues on intelligibility and speech naturalness in Spanish-accented speakers of English in two…
- Trial name
- NCT03645265
- Testing
- Auditory, Gestures
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Herbert H. Lehman College, City University of New York
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
Constipation, Constipation - Functional
The Impact of Respiratory Muscle Training and Patient Education on Chronic Constipation Outcomes
The primary aim of this study will be to determine if a respiratory muscle training program that includes both inspiratory muscle training (IMT) and expiratory muscle training (EMT), targeted at improving respiratory muscle…
- Conditions
- Constipation, Constipation - Functional, Dyssynergia
- Trial name
- NCT05823259
- Testing
- Hybrid Telehealth Program: Respiratory Muscle Training and Patient Education, Standard Physical Therapy Care
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Miami
Ataxia, Cerebrovascular Accident
PET Scan to Study Brain Control of Human Movement
Positron Emission Tomography (PET) is a technique used to investigate activity in areas of the brain. The PET technique allows researchers to study the normal processes in the brain (central nervous system) of normal individuals…
- Conditions
- Ataxia, Cerebrovascular Accident, Healthy, Movement Disorder
- Trial name
- NCT00001324
- Where
- United States
- Volunteers
- 510 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
DRPLA Natural History and Biomarkers Study (DRPLA NHBS) is a prospective observational study that will lay the foundation for clinical trials in DRPLA.
- Trial name
- DRPLA NHBS (NCT06273150)
- Testing
- Positive genetic test for pathological expansion in ATN1
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- University College, London
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
Spinocerebellar Ataxia Type 27B
Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal…
- Trial name
- NCT06472557
- Where
- 5 sites in Czechia, Germany and 2 more
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital Tuebingen
GLUT1DS1, Dystonia
Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome
Glucose transporter deficiency syndrome type 1 (GLUT1DS) is a rare, genetically determined, neurometabolic disorder . It is estimated that about 90% of affected patients present various pathological gait patterns.
- Conditions
- GLUT1DS1, Dystonia, Gait Disorders, Neurologic, Gait Ataxia
- Trial name
- NCT05887739
- Testing
- Inertial gait analysis
- Where
- 2 sites in Italy
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
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