Clinical trials: Brain Diseases, Metabolic, Inborn
Phenylketonuria
Sapropterin in Individuals With Phenylketonuria
Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures.
- Trial name
- NCT00730080
- Testing
- Sapropterin (Kuvan)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Inherited Metabolic Disorders (IMD)
MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT)
This study is designed to assess the safety and efficacy of using MGTA-456 in patients with Inherited Metabolic Disorders (IMD) undergoing stem cell transplantation.
- Trial name
- NCT03406962
- Testing
- MGTA-456
- Where
- 2 sites in United States
- Volunteers
- 8 people
- Sponsor
- Magenta Therapeutics, Inc.
Intermediate AMD
A Clinical Trial Evaluating the Safety and Efficacy of a New Light Combination Therapy Addressing Intermediate AMD
The proposed clinical investigation wants primary to validate the safety of the innovative light therapy approach and in second priority provide insight and confirmations on therapeutic effect.
- Trial name
- retinaSEES-PoC (NCT06557369)
- Testing
- reSEES
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Oculox Technologies SA
Bardet-Biedl Syndrome (BBS), Obesity
An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS)
An open-label, single-arm, multicenter, Expanded Access Protocol [EAP] designed to provide treatment access to setmelanotide (3 mg, administered subcutaneously [SC], once daily) for eligible patients with BBS who have no…
- Trial name
- NCT05183802
- Testing
- Setmelanotide, administered subcutaneously [SC], once daily.
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Pompe Disease
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
- Trial name
- NCT07787650
- Testing
- S-606001
- Volunteers
- 15 people
- Sponsor
- Shionogi
Fabry's Disease
Early Detection and Follow-Up of Patients With Fabry's Disease
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on: 1.
- Trial name
- NCT04847713
- Testing
- extraction of blood samples
- Where
- Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital Clinico Universitario de Santiago
Anarthria, Dysarthria
Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia
The purpose of this study is to obtain preliminary device safety information and demonstrate proof of principle (feasibility) of the ability of people with tetraplegia to control a computer cursor and other assistive devices with…
- Conditions
- Anarthria, Dysarthria, Tetraplegia, Spinal Cord Injuries
- Trial name
- BG-Speech-01 (NCT05724173)
- Testing
- BrainGate Neural Interface System
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Leigh R. Hochberg, MD, PhD.
Fabry Disease
Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).
- Trial name
- NCT05046379
- Testing
- Lipidomics
- Where
- 3 sites in Sweden
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Vastra Gotaland Region
Neurodegenerative Disease, Weight Loss
Electronic-health Application To Measure Outcomes REmotely Clinical Trial
This is a phase II feasibility, safety, tolerability and preliminary efficacy study of an e-Health application versus in-person nutritional counseling to maintain or increase weight in patients with neurodegenerative diseases…
- Conditions
- Neurodegenerative Disease, Weight Loss, Amyotrophic Lateral Sclerosis, Parkinson's Disease
- Trial name
- EAT MORE (NCT02418546)
- Testing
- In-Person Nutritional Counseling by a Registered Dietitian, Nutritional counseling using an e-Health Application
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- Massachusetts General Hospital
Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae.
- Conditions
- Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder, RCDP - Rhizomelic Chondrodysplasia Punctata, D-Bifunctional Protein Deficiency
- Trial name
- NCT01668186
- Where
- Canada
- Volunteers
- 244 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Pseudotumor Cerebri, Cystinosis
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC).
- Trial name
- NCT00071903
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Wilson's Disease
The Individual Therapy for Patients With Wilson's Disease
Based on the genotype characteristics and genotype-phenotype-treatment prognosis data of Chinese WD patients, this study intends to further optimize the treatment regimen of Chinese WD patients and formulate individualized…
- Trial name
- NCT03957720
- Testing
- DMPS, Penicillamine, DMSA
- Where
- China
- Volunteers
- 400 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Pompe Disease, Glycogen Storage Disease Type II (GSD-II)
Growth and Development Study of Alglucosidase Alfa
Pompe disease (also known as glycogen storage disease Type II) is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid α glucosidase (GAA), an enzyme that degrades lysosomal glycogen.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency Disease
- Trial name
- NCT00486889
- Testing
- alglucosidase alfa
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Genzyme, a Sanofi Company
Krabbe Disease
Biomarker for Krabbe Disease (BioKrabbe)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Krabbe Disease from blood
- Trial name
- BIOKRABBE (NCT01425489)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Cerebrovascular Accident, Stroke, Acute
Fabry and Cardiomyopathy (FaCard)
Primary objective and endpoint is the analysis of the long-term course of lyso-Gb3 and its clinical correlation to the progression of the cardiomyopathy in N215S-Fabry patients.
- Conditions
- Cerebrovascular Accident, Stroke, Acute, Cerebral Stroke
- Trial name
- FaCard (NCT01429597)
- Where
- Germany
- Sponsor
- CENTOGENE GmbH Rostock
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
Pompe Disease
Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia
The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area.
- Trial name
- NCT01482494
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Jordi Perez Lopez
Wilson's Disease
Patient Preference Study: Standard of Care Versus Once-daily Trientine Tetrahydrochloride
Decentralized study to assess patient reported treatment satisfaction comparing their current standard-of-care Wilson's Disease (WD) treatment with a new once-daily Trientine (TETA) 4HCl formulation.
- Trial name
- NCT07010575
- Testing
- New TETA 4HCl Formulation, Standard of Care
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Orphalan
Nasopharyngeal Carcinoma (NPC)
Brain Alterations Based on Multiplex MR Imaging in Nasopharyngeal Carcinoma Patients After Treatment, and Their Correlation With Clinical Cognitive Scores.
The objective of this study is to examine the potential impact of the treatment before, during, and/or after radiotherapy on the brain in patients with nasopharyngeal carcinoma (NPC) using Multiplex (MTP) MR imaging sequence…
- Trial name
- NPC (NCT07011329)
- Testing
- Changes in the brain MTP parameters after radiotherapy
- Where
- China
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hubei Cancer Hospital
Ischemic Heart Disease
FFR or OCT Guidance to RevasculariZe Intermediate Coronary Stenosis Using Angioplasty
Whether to revascularize patients with angiographically-intermediate coronary lesions (AICL) is a major clinical issue. Intravascular techniques (assessing either the anatomy or the functional effect of coronary stenoses) are…
- Trial name
- FORZA (NCT01824030)
- Testing
- FFR guided PCI, OCT guided PCI
- Where
- Italy
- Volunteers
- 400 people
- Sponsor
- Catholic University of the Sacred Heart
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