Clinical trials: Brain Diseases, Metabolic
Fabry Disease
Evaluation of Phenotypic Variability in Fabry Disease
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels.
- Trial name
- NCT03145779
- Where
- United States
- Sponsor
- Boston Children's Hospital
Cardiovascular Diseases, Heart Diseases
Epidemiology of Cardiovascular and Non-Cardiovascular Risk In Chicago
To continue the comprehensive research program on the epidemiology of cardiovascular and other major chronic diseases, including cancer and diabetes, in four Chicago population cohorts.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Coronary Disease, Cerebrovascular Disorders
- Trial name
- NCT00005140
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Urea Cycle Disorder
Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years.
- Trial name
- THRIVE (NCT01948427)
- Where
- United States
- Volunteers
- 203 people
- Sponsor
- Amgen
Acute Liver Failure, Wilson Disease
Daily Versus Alternate Day Plasma Exchange in Wilson Disease With Acute Liver Failure in Children
Wilson disease in children has a varied presentation. Wilson disease with acute liver failure is associated with very high mortality and morbidity.
- Trial name
- NCT06698991
- Testing
- Plasma Exchange, Standard Medical Treatment
- Where
- India
- Volunteers
- 20 people
- Sponsor
- Institute of Liver and Biliary Sciences, India
GM1 Gangliosidosis, GM2 Gangliosidosis
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2).
- Conditions
- GM1 Gangliosidosis, GM2 Gangliosidosis, Gaucher Disease, Type 2, Tay-Sachs Disease
- Trial name
- RETRIEVE (NCT04470713)
- Where
- 17 sites in United States, Belgium and 8 more
- Volunteers
- 226 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
MPS IIIB (Sanfilippo B Syndrome)
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Trial name
- NCT02090179
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Palliative Care Needs of Children With Rare Diseases and Their Families
The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making.
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome
- Trial name
- FACE-Rare (NCT06938542)
- Testing
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Where
- United States
- Volunteers
- 480 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Gaucher Disease, Type 1, Gaucher Disease, Type 3
Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease
Gaucher disease is a rare lysosomal storage disorder caused by deficient activity of the enzyme acid β-glucosidase, causing glucosylceramide to accumulate within macrophages and leading to hepatosplenomegaly, anemia…
- Trial name
- NCT05447494
- Testing
- Low-dose CAN103, High-dose CAN103
- Where
- China
- Volunteers
- 40 people
- Sponsor
- CANbridge (Suzhou) Bio-pharma Co., Ltd.
PKU, Phenylketonurias
Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04309331
- Testing
- Motion
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- Dr. Schär AG / SPA
Cardiovascular Diseases, Heart Diseases
Pawtucket Heart Health Program
To conduct a community-based research and demonstration project in cardiovascular disease prevention in the town of Pawtucket, Rhode Island.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Hypercholesterolemia, Hypertension
- Trial name
- NCT00005151
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Pompe Disease
A Long Term Follow up Study in Late-onset Pompe Disease
This study is to observe the progression of disease in late-onset Pompe disease
- Trial name
- NCT00713245
- Where
- Taiwan
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Cerebral Palsy (CP), Malnutrition in Children
Assessment of Nutritional Status Using Mid-Upper Arm Circumference Z-Score in Children With Cerebral Palsy
Children with cerebral palsy are at increased risk of malnutrition due to motor impairment, feeding difficulties, and chronic health problems.
- Trial name
- NCT07351695
- Where
- Turkey (Türkiye)
- Volunteers
- 84 people
- Sponsor
- Muğla Sıtkı Koçman University
Phenylketonuria (PKU)
PKU EASY Microtabs Plus - Acceptability and Tolerance
PEMP-AT is a prospective, single-arm, open-label, 1-week acceptability study to evaluate PKU EASY Microtabs Plus for the dietary management of participants with phenylketonuria (PKU).
- Trial name
- PEMP-AT (NCT06694662)
- Testing
- PKU EASY Microtabs Plus
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Galen Limited
Fabry Disease
Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
The primary objective of this study was to compare the effect of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) versus placebo on kidney globotriaosylceramide (GL-3).
- Trial name
- NCT00925301
- Testing
- migalastat hydrochloride
- Where
- 28 sites in United States, Argentina and 11 more
- Volunteers
- 67 people
- Sponsor
- Amicus Therapeutics
Urea Cycle Disorders
Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders
The primary purpose of the proposed study is to characterize the oxidative stress and inflammatory cytokine status in UCD during baseline and decompensated states.
- Trial name
- NCT01541722
- Where
- 11 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Mark Batshaw
Cerebral Adrenoleukodystrophy (CALD)
A Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD)
This trial assessed the efficacy and safety of autologous cluster of differentiation 34 (CD34+) hematopoietic stem cells, transduced ex-vivo with Lenti-D lentiviral vector (also called elivaldogene autotemcel or eli-cel), for the…
- Trial name
- NCT01896102
- Testing
- Lenti-D Drug Product (eli-cel)
- Where
- 8 sites in United States, Argentina and 4 more
- Volunteers
- 32 people
- Sponsor
- Genetix Biotherapeutics Inc.
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