Clinical trials: Brain Diseases, Metabolic, Inborn
Pompe Disease
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221
This is an international, multi-center, open-label study designed to evaluate if the co-administration of investigational new drugs ATB200 and AT2221 is safe in adults with Pompe disease.
- Trial name
- NCT02675465
- Testing
- ATB200, AT2221
- Where
- 19 sites in United States, Australia and 4 more
- Volunteers
- 29 people
- Sponsor
- Amicus Therapeutics
Wilson Disease, D-Penicillamine
Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea…
- Conditions
- Wilson Disease, D-Penicillamine, Effect of D-penicilline on Cutaneous Elastity of Wilson's Patient
- Trial name
- WILDERME (NCT06945081)
- Testing
- Preparation of forearm molds with SILFLO® silicone
- Where
- 2 sites in France
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Urea Cycle Disorder, Lysinuric Protein Intolerance
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn…
- Trial name
- NCT05706714
- Where
- Turkey (Türkiye)
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Phenylketonuria
Pharmacodynamics, Safety, Tolerability and Pharmacokinetics of CDX-6114 in Patients With Phenylketonuria (PKU)
This study is an international, multi-center, randomized, double-blind, placebo-controlled, two-treatment, two-period cross-over study to evaluate the pharmacodynamics, safety, tolerability and pharmacokinetics of a single oral…
- Trial name
- NCT04085666
- Testing
- CDX 6114
- Where
- 2 sites in Australia, Germany
- Volunteers
- 18 people
- Sponsor
- Société des Produits Nestlé (SPN)
Friedreich Ataxia
Micronised Resveratrol as a Treatment for Friedreich Ataxia
The aim of this study is to assess the efficacy of micronised resveratrol as a treatment for FRDA, in terms of reducing the severity of ataxia symptoms at 24 weeks, through a randomised blinded, placebo controlled crossover trial.
- Trial name
- NCT03933163
- Testing
- Resveratrol
- Where
- 4 sites in Australia
- Volunteers
- 25 people
- Sponsor
- Murdoch Childrens Research Institute
Galactosemia, Premature Ovarian Failure
Inactive FSH in Galactosemia
The aim of the study is to investigate whether inactive FSH plays a role in the development of Premature Ovarian Failure in women with Classic Galactosemia
- Trial name
- NCT00619333
- Testing
- follitropin and lutropin
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
Glycogen Storage Disease Type II
Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
Primary Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset…
- Trial name
- APOLLO-IOPD (NCT03687333)
- Testing
- ALGLUCOSIDASE ALFA (MYOZYME)
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase…
- Trial name
- BRIGHT (NCT03180840)
- Testing
- Pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Protalix
Diabetes, Chronic Kidney Diseases
Benchtop NMR Spectroscopy for Assessment of Clinical Human Pathologies (BRANCH-P STUDY)
This research programme seeks to combine the resources of NHS primary care, with the leading spectroscopic work in low-magnetic fields of the Wilson Group (Nottingham Trent University) to demonstrate the potential for benchtop…
- Conditions
- Diabetes, Chronic Kidney Diseases, Cancer, Bowel Disease
- Trial name
- BRANCH-P (NCT05473325)
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Willows Health
Ornithine Transcarbamylase (OTC) Deficiency
Safety and Dose-Finding Study of DTX301 (scAAV8OTC) in Adults With Late-Onset Ornithine Transcarbamylase (OTC) Deficiency
This is a Phase 1/2, open-label, single arm, multicenter, safety and dose finding study of DTX301 in adults with late-onset OTC deficiency.
- Trial name
- CAPtivate (NCT02991144)
- Testing
- scAAV8OTC, Reactive Corticosteroid Taper Regimen, Prophylactic Corticosteroid Taper Regimen
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Fabry Disease
FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation
In Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) systemic inflammation recently gained attention as a possible key pathophysiologic process involved in the development of cardiac hypertrophy and progression of the…
- Trial name
- FASHION (NCT05761834)
- Testing
- Sample blood and 2D-echocardiography with Doppler
- Where
- Italy
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Pompe Disease
A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease
The objective of this study was to evaluate the efficacy and safety of treatment with 4000 litre (L) alglucosidase alfa (Lumizyme®) in Pompe participants.
- Trial name
- NCT01526785
- Testing
- Alglucosidase alfa
- Where
- 51 sites in United States
- Volunteers
- 113 people
- Sponsor
- Genzyme, a Sanofi Company
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
Growth Hormone Deficiency, Idiopathic Short Stature
Skeletal Muscle Effects of GH in Boys
The purpose of the study is to measure the functional effects of recombinant GH in skeletal muscle, in addition to growth promotion, in short prepubertal boys with either growth hormone deficiency or idiopathic short stature.
- Trial name
- NCT04020913
- Testing
- Somatropin injection
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Neurodegenerative Diseases, Parkinson Disease
Neurodegenerative Diseases Progression Markers (MARKERS-NDD)
MARKERS-NDD is a prospective, observational, longitudinal study, which aims to collect data from patients affected by neurodegenerative diseases (NDD) followed longitudinally for routine examinations performed as part of normal…
- Conditions
- Neurodegenerative Diseases, Parkinson Disease, Synucleinopathies, Lewy Body Disease
- Trial name
- MARKERS-NDD (NCT06596746)
- Testing
- Observation
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- Casa di Cura San Raffaele Cassino
Cerebral Amyloid Angiopathy, Small Vessel Cerebrovascular Disease
Prognosis of Cerebral Small Vessel Disease
Prognosis of small vessel disease (SVD) depends on the underlying type of SVD and index manifestation. The aim of this prospective, observational cohort study is to determine the risk of different outcome events among patients…
- Conditions
- Cerebral Amyloid Angiopathy, Small Vessel Cerebrovascular Disease, Cadasil, CAA - Cerebral Amyloid Angiopathy
- Trial name
- PRO-SVD (NCT05734378)
- Where
- Switzerland
- Volunteers
- 900 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Pompe Disease
Pregnancy and Birth Outcome in Women With Pompe Disease
This study explores the outcome and effect of pregnancy on Pompe Disease. The results are expected to guide clinicians in counseling and care of women with Pompe disease, who are planning to become pregnant, and during the…
- Trial name
- NCT01556516
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- O & O Alpan LLC
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Alzheimer's Disease, Amyotrophic Lateral Sclerosis
Laughter Therapy Effects on Mood, Stress and Self-efficacy in People With Neurological Diseases.
This is a prospective investigation of the effects of Laughter therapy (LT) on perceived stress, self-efficacy, mood and other wellness measures in people with the following neurological conditions: Alzheimer's disease…
- Conditions
- Alzheimer's Disease, Amyotrophic Lateral Sclerosis, Brain Injury, Huntington's Disease
- Trial name
- NCT02750982
- Testing
- Laughter Therapy
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Brown, Theodore R., M.D., MPH
Fabry Disease
Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI
This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients at increase risk of adverse events.
- Trial name
- FIESTA-MRI (NCT04856059)
- Testing
- Cardiac MRI, ECG/Holter and Blood Biomarkers
- Where
- Canada
- Volunteers
- 300 people
- Sponsor
- University Health Network, Toronto
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