Clinical trials: Brain Disorder, Metabolic
Phenylketonuria
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly…
- Trial name
- NCT01917344
- Testing
- MRI
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Boston Children's Hospital
Phenylketonurias
Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted Diet
The primary objective of this trial is to evaluate the ability of Phenoptin to increase phenylalanine (phe) tolerance in children with phenylketonuria who are following a phe-restricted diet.
- Trial name
- NCT00272792
- Testing
- Sapropterin Dihydrochloride
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- BioMarin Pharmaceutical
Diabetes, Senile Dementia, Alzheimer Type
A Study of Mobile Medical Supportive Care Program for Family Caregivers With Dementia Combined With Diabetes
The purpose of this project is to evaluate the effectiveness of the clinical application of a mHealth supportive care program for family caregivers with dementia combined with diabetes based on the supportive care framework.
- Trial name
- NCT06785857
- Testing
- mHealth Supportive Care Program, Offline supportive care
- Where
- China
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Yuanjiao Yan
Phenylketonuria
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
The primary objective of the study is to evaluate the proportion of responders (that is, greater than or equal to [>=] 30 percent reduction from Baseline in blood phenylalanine [Phe] level) to treatment with Kuvan® (sapropterin…
- Trial name
- ENDURE (NCT01082328)
- Testing
- Kuvan®
- Where
- Norway
- Volunteers
- 59 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Arginase I Deficiency, Hyperargininemia
Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency
CAEB1102-300A is a multi-center randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of pegzilarginase in patients with ARG1-D.
- Trial name
- NCT03921541
- Testing
- Pegzilarginase
- Where
- 32 sites in United States, Austria and 5 more
- Volunteers
- 32 people
- Sponsor
- Immedica Pharma AB
Hyponatremia, Dilutional Hyponatremia
Effects of Tolvaptan vs Fluid Restriction in Hospitalized Subjects With Dilutional Hyponatremia
The purpose of this study is to determine if hospitalized patients with symptomatic hyponatremia treated with tolvaptan are in the hospital for less time than patients treated with fluid restriction.
- Conditions
- Hyponatremia, Dilutional Hyponatremia, Inappropriate ADH Syndrome
- Trial name
- SALACIA (NCT01227512)
- Testing
- tolvaptan, Fluid Restriction
- Where
- 56 sites in United States
- Volunteers
- 124 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Obesity
Cognition and Magnetic Resonance Imaging of Brain Inflammation in Obesity
The rate of obesity in the United States is high and is a risk factor for concurrent cognitive impairment and, in late life, dementias such as Alzheimer's disease.
- Trial name
- NIFOB (NCT04116229)
- Testing
- Oral glucose tolerance test, Cognitive testing, Magnetic resonance imaging
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Metachromatic Leukodystrophy (MLD)
Metazym for the Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
Objectives: The overall objective is to evaluate the safety, efficacy and pharmacokinetics (PK) of rhASA treatment in patients with late infantile MLD.
- Trial name
- NCT00418561
- Testing
- rhASA - Dose Level 1, rhASA - Dose Level 2, rhASA - Dose Level 3
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Frontotemporal Lobar Degeneration
Effects of Tolcapone on Frontotemporal Dementia
This study will test the effects of a medication called tolcapone on cognitive, behavioral, and language problems seen in patients with frontotemporal dementia (FTD).
- Trial name
- NCT00604591
- Testing
- Tolcapone
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Columbia University
Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II)
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa
This is an open-label, multicenter study of participants with late-onset Pompe disease naive to treatment with enzyme replacement therapy (ERT).
- Conditions
- Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenesis 2 Acid Maltase Deficiency
- Trial name
- NCT01288027
- Testing
- Alglucosidase Alfa
- Where
- 15 sites in United States, Germany and 2 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Amyotrophic Lateral Sclerosis
Study of Safety and Proof of the Mechanism of BLZ945 in ALS Patients
It was an open label study to evaluate safety, tolerability and brain microglia response in participants with Amyotrophic Lateral Sclerosis (ALS) following multiple doses of BLZ945.
- Trial name
- NCT04066244
- Testing
- BLZ945
- Where
- 4 sites in United States, Finland and 1 more
- Volunteers
- 28 people
- Sponsor
- Novartis Pharmaceuticals
Head Injury
Effect of Intrathoracic Pressure Regulation on Traumatic Brain Injury
The purpose of this study is to demonstrate proof of clinical concept that application of the Intrathoracic Pressure Regulator (ITPR) will result in an increase in Cerebral Perfusion Pressure (CPP) and a decrease in Intracranial…
- Trial name
- NCT01824589
- Testing
- -7 cm H2O ITPR, -12cm H2O ITPR
- Volunteers
- 1 people
- Sponsor
- Advanced Circulatory Systems
Gaucher Disease
Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase
Gaucher disease is a rare lysosomal storage disorder caused by the deficiency of the enzyme glucocerebrosidase (GCB). Due to the deficiency of functional GCB, glucocerebroside accumulates within macrophages leading to cellular…
- Trial name
- NCT00478647
- Testing
- GA-GCB (velaglucerase alfa)
- Where
- 15 sites in United States, Israel and 3 more
- Volunteers
- 40 people
- Sponsor
- Shire
Metachromatic Leukodystrophy (MLD)
Multicenter Study of HGT-1110 Administered Intrathecally in Children With Metachromatic Leukodystrophy (MLD)
The purpose of this study is to determine the safety of ascending doses of HGT-1110 administered by intrathecal (IT) injection for 38 weeks (20 injections) in children with metachromatic leukodystrophy (MLD).
- Trial name
- IDEAMLD (NCT01510028)
- Testing
- Recombinant human arylsulfatase A
- Where
- 5 sites in Australia, Denmark and 3 more
- Volunteers
- 24 people
- Sponsor
- Shire
Gaucher Disease, Type 1, Type 1 Gaucher Disease
A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy
This study was conducted to test the safety and tolerability of afegostat tartrate in participants with type 1 Gaucher disease already receiving enzyme replacement therapy.
- Conditions
- Gaucher Disease, Type 1, Type 1 Gaucher Disease, Gaucher Disease
- Trial name
- NCT00433147
- Testing
- Afegostat tartrate
- Where
- 10 sites in United States
- Volunteers
- 30 people
- Sponsor
- Amicus Therapeutics
Craniocerebral Trauma, Intracranial Aneurysm
Hypovitaminosis D in Neurocritical Patients
Vitamin D has been shown to impact prognosis in a variety of retrospective and randomized clinical trials within an intensive care unit (ICU) environment.
- Conditions
- Craniocerebral Trauma, Intracranial Aneurysm, Brain Neoplasms, Spinal Cord Injuries
- Trial name
- NCT02881957
- Testing
- Cholecalciferol
- Where
- United States
- Volunteers
- 274 people
- Sponsor
- University of Utah
Alzheimer's Disease
Safety Study of R(+)Pramipexole to Treat Early Alzheimer's Disease
By doing this study, researchers will examine the safety and tolerability of R-pramipexole in participants with Alzheimer's disease.
- Trial name
- NCT01388478
- Testing
- R-pramipexole
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Virginia Commonwealth University
Tay-Sachs Disease, Sandhoff Disease
A Dose-escalation and Safety & Efficacy Study of AXO-AAV-GM2 in Tay-Sachs or Sandhoff Disease
The AXO-GM2-001 study is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of a bilateral thalamic and intracisternal/intrathecal infusion of…
- Trial name
- NCT04669535
- Testing
- AXO-AAV-GM2 Starting Dose, AXO-AAV-GM2 Low Dose, AXO-AAV-GM2 Middle Dose
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Terence Flotte
Arginase I Deficiency, Hyperargininemia
A Study of AEB1102 (Pegzilarginase) in Patients With Arginase 1 Deficiency
The purpose of this study is to determine the safety, tolerability, and efficacy of long-term intravenous and subcutaneous administration of pegzilarginase for the treatment of pediatric and adult patients with ARG1-D who…
- Trial name
- NCT03378531
- Testing
- AEB1102
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 14 people
- Sponsor
- Immedica Pharma AB
Fabry Disease
Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease
This study aimed to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease.
- Trial name
- MODIFY (NCT03425539)
- Testing
- Lucerastat
- Where
- 49 sites in United States, Australia and 12 more
- Volunteers
- 118 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.