Clinical trials: Hereditary Ataxia
Neurodegenerative Disorders
Development of IPS from Donated Somatic Cells of Patients with Neurological Diseases
Human fibroblasts and possibly other human somatic cells may be reprogrammed into induced pluripotent stem (iPS) cells by the forced expression of transcription factors (1-5).
- Trial name
- NCT00874783
- Where
- Israel
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Hadassah Medical Organization
Ataxia Telangiectasia, Infections
Susceptibility to Infections in Ataxia Telangiectasia
Death in Ataxia telangiectasia (A-T) is usually due to cancer or chronic lung failure around 20 years of age. Despite low lymphocyte counts (CD3, CD4, CD8 and CD19), IgA and IgG subclass deficiency opportunistic and acute severe…
- Conditions
- Ataxia Telangiectasia, Infections, Immunodeficiency, Lung Disease
- Trial name
- NCT02345135
- Testing
- Blood collection, Lung function measurement, Symptom diary
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
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
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Spinocerebellar Ataxia
Wearable Gait Sensors
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 Spinocerebellar ataxia.
- Trial name
- NCT06628934
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- University of Chicago
Spinocerebellar Ataxias, Cerebellar Ataxia
Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
The purpose of this study is to create a repository for cerebellar ataxia and nucleotide repeat diseases in order to fully investigate the genetic and phenotypic presentations of both.
- Conditions
- Spinocerebellar Ataxias, Cerebellar Ataxia, Nucleotide Repeat Disease
- Trial name
- NCT04529252
- Testing
- Specimen collection
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
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.
Ataxia Telangiectasia
Body Composition and Hormonal Status in Ataxia Telangiectasia
Ataxia telangiectasia (A-T) is a rare devastating human recessive disorder characterized by progressive cerebellar ataxia, immunodeficiency, chromosomal instability, and cancer susceptibility.
- Trial name
- NCT02345200
- Testing
- bioelectrical impedance analysis, blood draw
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- Johann Wolfgang Goethe University Hospital
Spinocerebellar Ataxia Type 3
Identification of Biomarkers in Spinocerebellar Ataxia 3
The purpose of this study is to examine the differences in cerebral spinal fluid (CSF) and blood of patients with spinocerebellar ataxias and healthy volunteers.
- Trial name
- SCA3 (NCT03885167)
- Testing
- Specimen Collection
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Friedreich's Ataxia
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population.
- Trial name
- NCT02316314
- Testing
- Cardiac magnetic resonance imaging (CMR), Exercise-stress test, Echocardiogram (ECHO)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
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
Friedreich Ataxia
A Single Ascending Dose Study of DT-216P2 in Normal Healthy Participants
This purpose of the study is to evaluate the safety, tolerability and pharmacokinetics of single ascending doses of DT-216P2 administered either subcutaneously (SC) and intravenously (IV) in normal healthy participants.
- Trial name
- NCT06772870
- Testing
- DT-216P2, Saline
- Where
- Australia
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Design Therapeutics, Inc.
Non Invasive Prenatal Diagnosis
NIPD on CFTC for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the…
- Trial name
- DIACCIMEX (NCT03087526)
- Testing
- Non invasive prenatal diagnosis
- Where
- 8 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
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
Friedreich Ataxia
TCA Cycle in the Dentate in Friedreich's Ataxia
OBJECTIVE: To measure the tricarboxylic acid (TCA) cycle rate in the dentate nucleus in a group of control subjects and subjects with Friedreich's Ataxia (FRDA).
- Trial name
- NCT03122925
- Testing
- MR
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Friedreich Ataxia, Neuro-Degenerative Disease
FA Clinical Outcome Measures
This multicenter natural history study aims to expand the network of clinical research centers in FA, and to provide a framework for facilitating therapeutic interventions.
- Trial name
- FA-COMS (NCT03090789)
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Friedreich's Ataxia Research Alliance
Stroke, Spinocerebellar Ataxia
Laryngeal Adaptation for Speech and Swallowing
This 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.
- Conditions
- Stroke, Spinocerebellar Ataxia, Cerebral Stroke, Dysphagia
- Trial name
- NCT03770377
- Testing
- Intermittent Perturbation to Continuous Perturbation, Continuous Perturbation to Intermittent Perturbation
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Florida
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute