Clinical trials: Brain Diseases, Metabolic, Inborn
Stroke, Ischemic, Stroke Hemorrhagic
Exploring Accessible Beauty for Individuals With Upper Extremity Deficits
The purpose of this study is to investigate the accessibility of beauty products for individuals with upper extremity disabilities.
- Conditions
- Stroke, Ischemic, Stroke Hemorrhagic, Stroke (CVA) or TIA, Stroke, Acute
- Trial name
- NCT05945784
- Testing
- Use of Rare Beauty makeup products
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Casa Colina Hospital and Centers for Healthcare
PKU, Hyperphenylalaninemia
Antioxidant Signature in Adult Patients With Phenylketonuria
To date, oxidative stress in PKU has been evaluated only with fragmented approaches.The aim of the present study is to investigate oxidative stress in PKU with more comprehensive methods.The relationship between oxidative stress…
- Trial name
- StressOX-PCU (NCT02212288)
- Testing
- Blood sample, Urine sample
- Where
- France
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
Urea Cycle Disorders, Organic Acidemias
At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home.
- Conditions
- Urea Cycle Disorders, Organic Acidemias, Fatty Acid Oxidation Disorder, Ammonia; Metabolic Disorder
- Trial name
- NCT06953505
- Testing
- Ammonia Study Device
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Sequitur Health Corp.
Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II)
Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e.
- Conditions
- Mucopolysaccharidosis Type I (MPS I), Mucopolysaccharidosis Type II (MPS II), Mucopolysaccharidosis Type III (MPS III), Mucopolysaccharidosis Type VI (MPS VI)
- Trial name
- NCT01938014
- Where
- 3 sites in United States
- Volunteers
- 19 people
- Sponsor
- University of Chicago
Pompe Disease, McArdle Disease
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients.
- Trial name
- POMPE (NCT05943678)
- Testing
- Siemens Magnetom 7T Plus
- Where
- Austria
- Volunteers
- 30 people
- Sponsor
- Medical University of Vienna
Adrenoleukodystrophy
A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients
This is a Phase II/III, randomized, double-blind, placebo-controlled, multicenter, two parallel-group study in male patients with the adrenomyeloneuropathy (AMN) phenotype of X-linked adrenoleukodystrophy (X-ALD) to assess the…
- Trial name
- Advance (NCT03231878)
- Testing
- Leriglitazone
- Where
- 10 sites in United States, France and 6 more
- Volunteers
- 116 people
- Sponsor
- Minoryx Therapeutics, S.L.
Fabry Disease
Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta
This study is a prospective active comparator study to assess the immune response elicited by human recombinant agalsidase therapy in subjects who are switching from agalsidase alfa to agalsidase beta with Fabry disease.
- Trial name
- NCT01745185
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- O & O Alpan LLC
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Hepatic Encephalopathy, Urea Cycle Disorders
A Study of Glyceryl Tri-(4-phenylbutyrate) Administered Orally as a Single Dose, and Twice Daily for Seven Consecutive Days to Subjects With Hepatic Impairment With Cirrhosis and to a Control Group
The purpose of this study is to determine the safety and tolerability of GT4P administered orally as a single dose, and twice daily for 7 consecutive days, to subjects with hepatic impairment with cirrhosis (Child-Pugh scores of…
- Trial name
- NCT00986895
- Testing
- HPN-100
- Where
- 2 sites in Ukraine
- Volunteers
- 32 people
- Sponsor
- Amgen
Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary
ENDEAVOUR: Phase 3 Multicenter Study of Revusiran (ALN-TTRSC) in Patients With Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC)
The purpose of this study was to evaluate the safety and efficacy of revusiran (ALN-TTRSC) in patients with transthyretin (TTR) mediated Familial Amyloidotic Cardiomyopathy.
- Conditions
- Transthyretin (TTR) Mediated Familial Amyloidotic Cardiomyopathy (FAC), Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Amyloid Neuropathies
- Trial name
- NCT02319005
- Testing
- Revusiran (ALN-TTRSC), Sterile Normal Saline (0.9% NaCl)
- Where
- 61 sites in United States, Belgium and 7 more
- Volunteers
- 206 people
- Sponsor
- Alnylam Pharmaceuticals
Gaucher Disease
Lentiviral Vector Gene Therapy - The Guard1 Trial of AVR-RD-02 for Subjects With Type 1 Gaucher Disease
This was a multinational, open-label study to assess the safety and efficacy of AVR-RD-02 in approximately 8 to 16 subjects (male or female) who are ≥18 and ≤50 years of age and post pubertal at Screening with a confirmed…
- Trial name
- NCT04145037
- Testing
- AVR-RD-02
- Where
- 5 sites in United States, Canada
- Volunteers
- 8 people
- Sponsor
- AVROBIO
Inherited Mitochondrial Disease, Including Leigh Syndrome
Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease
To evaluate safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) administered at a target maintenance dose of 1.3 g/m²/day in two divided doses, every 12 hours, for up to 6 months in…
- Trial name
- MITO-001 (NCT02023866)
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 36 people
- Sponsor
- Amgen
X-linked Adrenoleukodystrophy
Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
X-linked adrenoleukodystrophy (ALD) is a genetic disorder affecting the brain and adrenal glands. Approximately one third of boys who are at risk will develop cerebral disease.
- Trial name
- NCT02233257
- Testing
- Lorenzo's Oil
- Where
- United States
- Sponsor
- University of Minnesota
Fabry Disease
Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients
The objective of CLI-06657AA1-03 (formerly PB-102-F51) is to evaluate the long-term safety, tolerability, and efficacy of 2 mg/kg pegunigalsidase alfa administered intravenously every four weeks in adult Fabry patients who have…
- Trial name
- NCT03614234
- Testing
- pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 29 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Phenylketonuria, Tyrosinemia
GMP Powdered Substitutes in PKU and TYR
Four new GMP-based protein substitutes have been developed to support the dietary management of PKU and TYR. These products are powdered protein substitutes, low in phenylalanine and low in phenylalanine and tyrosine…
- Trial name
- NCT06941532
- Testing
- GMP Intervention Product
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- Nutricia UK Ltd
Friedreich Ataxia
A Study to Learn How BIIB141 (Omaveloxolone) Affects the Health of Participants With Friedrich's Ataxia Who Took it During Pregnancy and/or During Breastfeeding and About the Health of Their Babies
In this study, researchers will learn more about the safety of BIIB141, also known as omaveloxolone or SKYCLARYS. This is a drug available for doctors to prescribe for people with Friedrich's Ataxia, also known as FA.
- Trial name
- NCT06628687
- Testing
- Omaveloxolone
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Biogen
Phenylketonuria (PKU)
The Psychosocial Functioning of Adults With Phenylketonuria.
Current recommendations are to maintain Phe levels < 360 µmol/L throughout life (US consensus) or < 600 µmol/L from the age of 12 (European consensus).
- Trial name
- CoMet-PCU (NCT07406009)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
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
Wilson Disease, Generalized Epilepsy
Clinical Features and Outcome of Wilson's Disease With Generalized Epilepsy in Chinese Patients
Generalized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the…
- Trial name
- NCT04965571
- Testing
- genetic test
- Where
- China
- Volunteers
- 13 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Gaucher Disease, Fabry Disease
Therapeutic Exercise to Treat Neuropathic Pain
A quasi-experimental, prospective clinical trial with pre and post intervention measurements, whose porpuose is assess the efficacy of a therapeutic exercise protocol to treat neuropathic pain in Fabry Disease.
- Trial name
- Aps (NCT04050137)
- Testing
- Therapeutic Exercise
- Where
- Spain
- Volunteers
- 5 people
- Sponsor
- Universidad de Zaragoza