Clinical trials: Brain Metabolism
Friedreich Ataxia
A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia
The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).
- Trial name
- MOVE-FA (NCT04577352)
- Testing
- Vatiquinone
- Where
- 14 sites in United States, Australia and 7 more
- Volunteers
- 146 people
- Sponsor
- PTC Therapeutics
Alzheimer's Disease, Dementia
Nutritional Programme for Dementia Elderly Patient
The main objective of this study is the improvement of the quality of life and state of health of elderly people with cognitive deterioration and their families through a weight loss prevention programme.
- Trial name
- NCT00479843
- Testing
- Nutritional programme
- Where
- Spain
- Volunteers
- 946 people
- Sponsor
- Société des Produits Nestlé (SPN)
Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
- Trial name
- FLY (NCT06328608)
- Testing
- PRX-102 1 mg/kg every two weeks
- Where
- 12 sites in United States, Austria and 4 more
- Volunteers
- 22 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Amyotrophic Lateral Sclerosis
mGluR5 Imaging in ALS Using PET
In ALS models, it was shown that receptors, that bind an important messenger substance (glutamate) in the brain, are increased. In this research project, the investigators want to use a specific radioactive substance to find out…
- Trial name
- NCT05340660
- Testing
- [ 18 F]PSS232
- Where
- Switzerland
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Nathalie Braun
Gaucher Disease
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
- Trial name
- NCT06523517
- Testing
- Eliglustat Tartrate Capsules
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Peking Union Medical College Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Diabetes Mellitus, Type 1, Behavior, Health
Game-based Pediatric Diabetes Education
The goal of this study is to evaluate the impact of a mobile app video game called Digital Vaccine for Type 1 Diabetes (DVx-T1D)™, proposed as a low-risk, non-invasive, digital therapeutic candidate for behavior change in…
- Trial name
- DVx-T1D (NCT06264258)
- Testing
- DVx-T1D™ app
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Carnegie Mellon University
Probable Alzheimer Disease, Parkinson Disease
In Vivo Alzheimer Proteomics
In France, an estimated 860 000 patients are affected by Alzheimer Disease (AD) which represents, as in other developed countries, a major public health issue.
- Conditions
- Probable Alzheimer Disease, Parkinson Disease, Neurological Disease Without Cognitive Degradation, Brain Trauma
- Trial name
- PROMARA (NCT02263235)
- Testing
- administration of stable isotope-labelled leucine-, collection of CSF, blood, urine, saliva
- Where
- France
- Volunteers
- 89 people
- Sponsor
- University Hospital, Montpellier
Pompe Disease
Alglucosidase Alfa Pompe Safety Sub-Registry
To collect uniform and meaningful data on patients with Pompe disease who experience anaphylaxis, severe allergic reactions, and/or signals of severe cutaneous and/or systemic immune complex-mediated reactions following treatment…
- Trial name
- NCT01710813
- Testing
- alglucosidase alfa
- Where
- 18 sites in United States, Belgium and 4 more
- Volunteers
- 110 people
- Sponsor
- Genzyme, a Sanofi Company
Cirrhosis, Acquired Portal-systemic Shunt Due to Cirrhosis
Effect of Transjugular Intrahepatic Portosystemic Shunt on Gut Microbiota in Cirrhotic Patients
The purpose of this study is to determine the effect of transjugular intrahepatic portosystemic shunt on gut microbiota and associated inflammatory factors in cirrhotic patients.
- Conditions
- Cirrhosis, Acquired Portal-systemic Shunt Due to Cirrhosis, Hepatic Encephalopathy
- Trial name
- NCT02427906
- Where
- China
- Volunteers
- 50 people
- Sponsor
- West China Hospital
Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors
Longitudinal Study of Urea Cycle Disorders
Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma.
- Conditions
- Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
- Trial name
- NCT00237315
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 1,500 people
- Sponsor
- Andrea Gropman
Upper Extremity Impairments, Cerebral Palsy (CP)
Obi Medical Robot: Evaluating Effectiveness Related to Usability
This mixed-methods usability study evaluates the effectiveness of the Obi Gen 3 robotic feeding device in meeting user needs among providers, caregivers, and patients.
- Conditions
- Upper Extremity Impairments, Cerebral Palsy (CP), ALS - Amyotrophic Lateral Sclerosis, Rett Syndrome
- Trial name
- NCT07151950
- Testing
- One-week trial of Obi Medical device, which provides robotic assistance with feeding to persons with upper extremity impairments who are unable to self-feed in the traditional manner using utensils
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Desin LLC
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Primary Tauopathies, Corticobasal Degeneration Syndrome
BIIB092 in Primary Tauopathies: CBS, nfvPPA, sMAPT, and TES
A Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Parallel Cohort Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy Study of Intravenously Infused BIIB092 in Patients with Four Different…
- Conditions
- Primary Tauopathies, Corticobasal Degeneration Syndrome, Frontotemporal Lobar Degeneration With Tau Inclusions, MAPT Mutation Carriers, Symptomatic
- Trial name
- TauBasket (NCT03658135)
- Testing
- BIIB092
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- University of California, San Francisco
Alzheimer's Disease (AD)
Trial of Oxaloacetate in Alzheimer's Disease (TOAD)
The purpose of this study is to determine if oxaloacetate (OAA) is safe and tolerable at doses of up to 2 grams per day in people with Alzheimer's disease (AD).
- Trial name
- TOAD (NCT02593318)
- Testing
- Oxaloacetate (OAA) 1g, Oxaloacetate (OAA) 2g
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Russell Swerdlow
Glucose Metabolism, Glucagon
Investigating the Acute Effects of Increasing Glucagon Exposure in Healthy Participants
In this study the investigators will investigate the acute effects of increasing glucagon exposure on metabolic parameters in healthy participants. Participants will participate in one study day.
- Trial name
- NCT06921824
- Testing
- Glucagon
- Where
- Denmark
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Nicolai Jacob Wewer Albrechtsen
Pompe Disease
Drug-drug Interaction Study
This study evaluates drug-drug interactions between AT2220 (duvoglustat) and recombinant human alpha-glucosidase (rhGAA, also known as alglucosidase alfa) in participants with Pompe Disease.
- Trial name
- NCT01380743
- Testing
- duvoglustat, rhGAA
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- Amicus Therapeutics
Phenylketonuria (PKU)
Iron Supplements Effect on b-Phe Levels in PKU Patients During 3 Years Study
This clinical trial study aims to Evaluate whether iron supplementation for 3 months may help reduce Phe blood concentration in PKU patients by enhancing the hydroxylation of Phe to tyrosine (Tyr).
- Trial name
- ISPEK (NCT06792240)
- Testing
- iron supplementation, control group
- Where
- Italy
- Volunteers
- 84 people
- Sponsor
- ASST Santi Paolo e Carlo
Attention Deficit Disorder With Hyperactivity, Asthma
Study of an Intervention to Improve Problem List Accuracy and Use
The aim of this study is to identify patients with problem list gaps and intervene to correct these gaps by creating clinical decision support interventions that alert providers to likely problem list gaps and offer clinicians…
- Conditions
- Attention Deficit Disorder With Hyperactivity, Asthma, COPD, Breast Cancer
- Trial name
- MAPLE (NCT01105923)
- Testing
- MAPLE
- Where
- United States
- Volunteers
- 140 people
- Sponsor
- Brigham and Women's Hospital
Friedreich's Ataxia
Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA)
The purpose of this study is to confirm the treatment effects of vatiquinone on the key measures of FA disease progression.
- Trial name
- PROVE-FA (NCT07681713)
- Testing
- Vatiquinone
- Where
- 9 sites in United States, Belgium and 4 more
- Volunteers
- 120 people
- Sponsor
- PTC Therapeutics