Clinical trials: Cerebellar Ataxia
Ataxia
RFC1 Natural History Study
This international, multi-center, multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease, and to seek and validate digital…
- Trial name
- RFC1-NHS (NCT05177809)
- Testing
- Clinical rating scale to measure ataxia disease severity and progression
- Where
- 10 sites in Australia, Brazil and 5 more
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Prof. Dr. Matthis Synofzik
Friedreich Ataxia
Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients
Friedreich's Ataxia (FA) is an autosomal recessive disease the mutation of which leads to a deficiency of a protein called frataxin, which is responsible for the symptoms of the disease.
- Trial name
- CalcitriolFA (NCT04801303)
- Testing
- Calcitriol, Blood analysis for frataxin's level measurement, Blood analysis for hypercalcemia's control
- Where
- Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Berta Alemany
Rheumatoid Arthritis, Ankylosing Spondylitis
PatientSpot Formerly Known as ArthritisPower
Patient Power is a patient research network and database (registry) to collect prospective information about demographics, self-reported diagnoses and medications, and willingness to participate in research from participants with…
- Conditions
- Rheumatoid Arthritis, Ankylosing Spondylitis, Fibromyalgia, Gout
- Trial name
- NCT03840928
- Where
- United States
- Volunteers
- 40,000 people, healthy volunteers welcome
- Sponsor
- Global Healthy Living Foundation
Ataxia Telangiectasia
Biomarkers for Babies and Young Children With Ataxia Telangiectasia
The goal of this observational study is to identify progressive changes of quantitative brain and lung imaging, serum and movement-related biomarkers reflecting disease progression in pre-symptomatic infants and very young…
- Trial name
- BOBCAT (NCT07709728)
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Periodontitis, Gingivitis and Periodontal Diseases
MERC Proteins in Saliva and GCF in Periodontal Disease (ELISA Study)
This observational cross-sectional study investigates the levels of mitochondria-endoplasmic reticulum contact site (MERC) proteins in saliva and gingival crevicular fluid (GCF) of individuals with different periodontal…
- Conditions
- Periodontitis, Gingivitis and Periodontal Diseases, Biomarker Discovery and Validation, Pathways
- Trial name
- EKNMERC-GCF-SL (NCT07601685)
- Testing
- ELISA Biomarker Analysis, Calcium Measurement
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Inonu University
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
Cerebellar Ataxia, Dysarthria
The Role of Cerebellum in Speech
This study will investigate the how the cerebellum is involved in speech motor learning over time and short-term corrections in patients with cerebellar ataxia and healthy controls.
- Conditions
- Cerebellar Ataxia, Dysarthria, Healthy
- Trial name
- NCT03972202
- Testing
- MRI, TMS, Speech-motor behavioral testing
- Where
- 3 sites in United States
- Volunteers
- 660 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
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
MIRAS, Testicular Abnominalies
Could miRNAs be Used as Markers for Distinguishing Undescended Testicles From Retractile Testicles
Background: Undescended testicles (UDTs) are common in male infants. Untreated UDT poses risks such as infertility (IF), testicular cancer (TC), and testicular torsion (TT).
- Conditions
- MIRAS, Testicular Abnominalies, Undescended Testes
- Trial name
- miRNA (NCT07315737)
- Testing
- miRNA
- Where
- Turkey (Türkiye)
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Dr. Mevlüt Keleş
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
Siderosis, Neurological Disorder
Audiovestibular Function in Infratentorial Superficial Siderosis
One in six people in the United Kingdom and over 400 million people worldwide have disabling hearing loss. This figure will double by 2050 as predicted by the World Health Organisation.
- Conditions
- Siderosis, Neurological Disorder, Rare Diseases, Age Related Hearing Loss
- Trial name
- AViSS (NCT04200664)
- Testing
- Hearing assessment, Vestibular/balance assessment, Quality of life assessment
- Where
- 2 sites in United Kingdom
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University College, London
Vestibular Hypofunction, Ataxia - Other
Vibrotactile Balance Belt Effect on Improving Gait
This study will examine the effect of using a vibrotactile feedback implemented into a belt, at improving gait in those with gait disorders.
- Conditions
- Vestibular Hypofunction, Ataxia - Other, Gait Impairment
- Trial name
- BalanceBelt (NCT07253532)
- Testing
- BalanceBelt
- Where
- 2 sites in United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Cerebellar Ataxia
Virtual Reality-based Training in Cerebellar Ataxia
The purpose of this study was to investigate the effects of virtual reality-base training for cerebellar ataxia.
- Trial name
- NCT02900508
- Testing
- Exergaming training, Physical therapy intervention
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- National Yang Ming Chiao Tung University
Spinocerebellar Ataxia Type 3, Machado-Joseph Disease
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD
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.
- Trial name
- BIGPRO (NCT04229823)
- Testing
- Video-oculography, Clinical Scales, Genotyping
- Where
- Brazil
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- Hospital de Clinicas de Porto Alegre
Teenagers, Athletes
Effect of a Bean Protein-added Supplement on Body Composition in High-performance Adolescent Athletes
Background: Sport is a specialized competitive physical activity that is regulated and requires daily physical training. The workouts allow athletes to increase strength, endurance exercise performance, and muscle mass.
- Trial name
- NCT05307159
- Testing
- bean protein supplement
- Where
- Mexico
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hospital Regional de Alta Especialidad de la Península de Yucatán
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
Opsoclonus-myoclonus Syndrome
Study of Cytokines in Children With Opsoclonus-Myoclonus Syndrome
The purpose of this study is to determine if cytokines, inflammatory mediators, are increased in spinal fluid and blood, correlate with disease activity, and could serve as biomarkers or therapeutic targets in children with…
- Trial name
- OMS (NCT00806182)
- Where
- United States
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Pediatric Neuroinflammation Organization, Inc.
Hereditary Spastic Paraplegia, Spastic Ataxia
TreatHSP Platform: Adaptive Natural History Platform for Ataxias, HSPs, and Spastic Ataxias
Ataxias, hereditary spastic paraplegias (HSP), and spastic ataxias (collectively referred to as SPAX diseases) are rare neurological conditions that cause progressive problems with walking, balance, coordination, and daily…
- Trial name
- TreatHSP (NCT07798674)
- Where
- 30 sites in Austria, Czechia and 7 more
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Hypoxia
The Evaluation of a Mobile Device to Measure Ataxia With High Altitude Exposure
With exposure to high altitude some individuals will develop acute mountain sickness (AMS). Current evaluation of AMS can make it difficult to rule out other possible conditions.
- Trial name
- NCT02600078
- Testing
- AMS Monitor App, Lake Louise Score, Balance Error Scoring System
- Where
- Canada
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.