Clinical trials: Inherited Movement Disorders
Wilson Disease
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson Disease
The investigators aimed to identify factors associated with symptoms and features of Wilson disease from a large cohort during long-term follow-up
- Trial name
- NCT04965545
- Testing
- low copper diet
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Trientine Treatment for Wilson's Disease
A Retrospective Study to Assess the Clinical Efficacy and Safety of Trientine in Wilson's Disease Patients
This is a retrospective study to assess the clinical efficacy and safety of trientine in Wilson's disease patients
- Trial name
- NCT03299829
- Testing
- Trientine
- Where
- Taiwan
- Volunteers
- 48 people
- Sponsor
- Excelsior
Tourette Syndrome
D-cycloserine Augmented Treatment for Youth With Tic Disorders
This pilot study aims evaluate the feasibility and initial efficacy of behavior therapy augmented by d-cycloserine (DCS) compared to behavior therapy augmented by placebo.
- Trial name
- NCT04357951
- Testing
- d-cycloserine, Behavior Therapy
- Where
- United States
- Sponsor
- Johns Hopkins University
Angelman Syndrome, Neurodevelopmental Conditions
A Natural History Study of Angelman Syndrome
The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS.
- Trial name
- GLOW-AS (NCT07417137)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Massachusetts General Hospital
Angelman Syndrome
Characterization of Angelman Syndrome
Angelman Syndrome (AS) is a developmental disorder that is caused by a deficiency of a maternally transmitted gene. It is inherited at birth, and affects movement, speech, and social demeanor.
- Trial name
- NCT00296764
- Where
- 6 sites in United States
- Volunteers
- 302 people
- Sponsor
- Boston Children's Hospital
Neurodegeneration With Brain Iron Accumulation (NBIA)
NBIAready: Online Collection of Natural History Patient-reported Outcome Measures
The purpose of this study is to learn more about Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders. Data is being collected on three types of NBIA disorders: Pantothenate Kinase-Associated Neurodegeneration (PKAN)…
- Trial name
- NCT02587858
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Susan J. Hayflick
Tourette Syndrome
Multimodal Electrophysiological Study of Cortico-subcortical Biomarkers of Tics in Tourette Syndrome
Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by the occurrence of involuntary movements (motor tics) and vocalizations (phonic tics).
- Trial name
- BioTic (NCT06909656)
- Testing
- Multimodal electrophysiological recordings
- Where
- France
- Volunteers
- 10 people
- Sponsor
- University Hospital, Bordeaux
Angelman Syndrome
Expanded Access/Compassionate Use of Rugonersen in Patients With Angelman Syndrome
For a patient to be considered for this EAP, they must have consented to participate in the TANGELO Optional Open-label Extension (OOE), and continue to meet the inclusion/ exclusion criteria and have not received any other…
- Trial name
- NCT07136454
- Testing
- Rugonersen
- Sponsor
- Oak Hill Bio Ltd
Obsessive Compulsive Disorder, Healthy
Cortical Excitability in Obsessive-Compulsive and Related Disorders
This study will use transcranial magnetic stimulation (TMS) to study the function of the cerebral cortex (outer layer of the brain) in people with obsessive compulsive disorder (OCD) and related disorders.
- Trial name
- NCT00029068
- Where
- United States
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Tic-Disorder
Efficacy of Psychotherapy Treatment of Children With Tics
The main purpose of this study is to evaluate the efficacy of a habit reversal based treatment programme compared to an alternative treatment which aims at the activation of resources in children and adolescents aged 8 to 18…
- Trial name
- NCT02144870
- Testing
- Habit Reversal Training, Resources activation
- Where
- Germany
- Volunteers
- 100 people
- Sponsor
- University of Cologne
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
Tourette Syndrome in Adolescence, Tourette Syndrome
Influence of Stress and Psychiatric Symptoms on Children With Tourette Syndrome
Investigators propose a cross-sectional, observational pilot study to examine the contribution of stress, family dynamics, and peer relationships to quality of life (QOL) in adolescents with Tourette syndrome (TS).
- Conditions
- Tourette Syndrome in Adolescence, Tourette Syndrome, Tourette Syndrome in Children
- Trial name
- InSPSCTS (NCT04449003)
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- Vanderbilt University Medical Center
Tourette Syndrome, Tourette Syndrome in Adolescence
A Study to Explore the Effect of Sepranolone in Tourette Syndrome
The study was an open-label, randomized, multicenter, parallel, Phase 2a study in adolescents and adult patients with Tourette syndrome that aimed to explore the efficacy of Sepranolone as a treatment for Tourette syndrome, by…
- Trial name
- NCT05434546
- Testing
- Sepranolone
- Where
- 2 sites in Denmark
- Volunteers
- 26 people
- Sponsor
- Asarina Pharma
Wilson Disease
Study of Zinc for Wilson Disease
OBJECTIVES: I. Establish the safety and efficacy of extended maintenance zinc therapy in 200 patients with Wilson disease. II. Establish further the role of zinc in the prophylactic treatment of presymptomatic patients by…
- Trial name
- NCT00004338
- Testing
- zinc acetate
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- National Center for Research Resources (NCRR)
Huntington Disease
Study of Huntington Patients in Connection With European Huntington's Disease Network (EHDN)
REGISTRY is a multi-centre, multi-national, prospective, observational study of Huntington's disease (HD) with a control group of volunteers.
- Trial name
- NCT01554033
- Where
- South Korea
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Seoul National University Hospital
Movement Disorder
Phenotype/Genotype Correlations in Movement Disorders
The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the…
- Trial name
- NCT00018889
- Where
- United States
- Volunteers
- 2,500 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Cerebral Palsy, Infant Development
Associations Between General Movements Assessments and Cognitive Development
High risk infant is defined as infant with a negative history of environmental and biological factors, which can lead to neuromotor development problems.
- Conditions
- Cerebral Palsy, Infant Development, Cognitive Dysfunction, Cognitive Developmental Delay
- Trial name
- GMs (NCT05217056)
- Testing
- measurements
- Where
- Turkey (Türkiye)
- Volunteers
- 63 people
- Sponsor
- Kahramanmaras Sutcu Imam University
Citrate Transporter Deficiency, Epilepsy
SLC13A5 Deficiency Natural History Study - Remote Only
SLC13A5 deficiency (Citrate Transporter Disorder, EIEE 25) is a rare genetic disorder with neurodevelopmental delays and seizure onset in the first few days of life.
- Conditions
- Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders
- Trial name
- NCT04681781
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- TESS Research Foundation
Upper Extremity Dysfunction
Movement Enhancing Device for Children
The purpose of this study is to assess: 1) how infants move their bodies to explore, play, and solve problems, 2) if this is different in a high-risk group of infants, and 3) if these abilities can be advanced in a high-risk…
- Trial name
- NCT01959581
- Testing
- Movement Enhancing Device
- Where
- 3 sites in United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University of Delaware