Clinical trials: Brain Diseases, Metabolic, Inborn
Fabry Disease
Characterisation of Heart Involvement in Fabry Disease With T1 Mapping
Fabry disease is a rare lysosomal storage disorder characterised by a genetic deficiency in the α-galactosidase enzyme. This deficiency leads to a progressive accumulation of a fatty substance, called glycosphingolipids within a…
- Trial name
- T1 (NCT04708301)
- Testing
- T1 mapping
- Where
- United Kingdom
- Volunteers
- 200 people
- Sponsor
- Manchester University NHS Foundation Trust
Gaucher Disease Type 3
A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
A phase I/II clinical study to evaluate the tolerance, safety and efficacy of VGN-R08b intracerebroventricular injection in patients with type III Gaucher's disease
- Trial name
- NCT07603050
- Testing
- VGN-R08b
- Volunteers
- 12 people
- Sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
Multiple Sclerosis, Optic Neuritis, Demyelinating Disease
Visual (Path)Ways in Multiple Sclerosis - Part II
Multiple sclerosis (MS) is an inflammatory demyelinating and degenerative disease of the central nervous system. The mechanisms of neuro-axonal loss remain incompletely elucidated.
- Trial name
- VWIMS - II (NCT06776224)
- Testing
- Measurement of retinal vascular density and visual cognition
- Where
- France
- Volunteers
- 64 people
- Sponsor
- University Hospital, Lille
Adrenoleukodystrophy
Early Diagnosis Of Childhood Cerebral ALD
The goal of this single institution study is to evaluate boys with adrenoleukodystrophy (ALD) diagnosed early in life, and to prospectively monitor them to determine parameters that will facilitate earlier detection of the…
- Trial name
- NCT02948062
- Where
- United States
- Sponsor
- Masonic Cancer Center, University of Minnesota
Phenylketonuria (PKU)
PKU Microtablets Case Studies
Phenylalanine (Phe) free protein substitutes are typically presented in ready to drink liquid or powder format and are made up with water to a set volume.
- Trial name
- NCT07671859
- Testing
- PKU Microtablet protein substitute
- Where
- United Kingdom
- Volunteers
- 20 people
- Sponsor
- Nutricia UK Ltd
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Fabry Disease
Real World Evidence Study of Danish Fabry Patients
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely…
- Trial name
- RWE-FABRY (NCT06303466)
- Where
- Denmark
- Volunteers
- 115 people
- Sponsor
- Caroline Michaela Kistorp
Ataxia-Telangiectasia
Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
This study aims to investigate the link between the Ataxia Telangiectasia Mutated (ATM) gene and metformin response. This link has been identified from large studies of the human genome, and this study aims to confirm this link…
- Trial name
- RAMP (NCT02733679)
- Testing
- Metformin, Pioglitazone
- Where
- United Kingdom
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- NHS Tayside
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
Phenylketonuria (PKU)
A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)
The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years.
- Trial name
- NCT07672756
- Testing
- PL54
- Where
- China
- Volunteers
- 48 people
- Sponsor
- Chongqing Peg-Bio Biopharm Co., Ltd.
Pompe Disease, Glycogen Storage Disease Type II (GSD II)
Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients.
Primary Objective: To evaluate the safety and tolerability of neoGAA in treatment naïve and alglucosidase alfa treated late-onset Pompe disease patients.
- Conditions
- Pompe Disease, Glycogen Storage Disease Type II (GSD II), Acid Maltase Deficiency
- Trial name
- NCT01898364
- Testing
- GZ402666
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 24 people
- Sponsor
- Genzyme, a Sanofi Company
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
Natural History of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)
This is a prospective longitudinal natural history study with a retrospective cross-sectional arm aimed at determining the natural history of sphingosine phosphate lyase insufficiency syndrome (SPLIS), a recently recognized…
- Trial name
- SPLIS-HIS (NCT06669949)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of California, San Francisco
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENEREXT Study
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202.
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS)
- Trial name
- NCT04604548
- Testing
- Oral administration of 100 mg KH176 twice daily
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 11 people
- Sponsor
- Khondrion BV
Cardiomyopathies, Amyloidosis Cardiac
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging…
- Conditions
- Cardiomyopathies, Amyloidosis Cardiac, Fabry Disease, Arrhythmogenic Cardiomyopathy
- Trial name
- CMPMIRNA (NCT06813443)
- Where
- 3 sites in Italy
- Volunteers
- 700 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Neurologic Diseases, Hemiparesis
NuroSleeve Powered Brace & Stimulation System to Restore Arm Function
The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one…
- Conditions
- Neurologic Diseases, Hemiparesis, Quadriplegia, Muscular Dystrophies
- Trial name
- NCT04798378
- Testing
- Neurosleeve
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Phenylketonurias
Safety and Efficacy Study of NGGT002 in PKU Adult Subjects
This is a single-center, open-label, non-randomized, dose escalation study to evaluate the safety, tolerability and efficacy of NGGT002 in adult Phenylketonuria (PKU) subjects.
- Trial name
- NCT06061614
- Testing
- NGGT002 Injection
- Where
- China
- Volunteers
- 15 people
- Sponsor
- The First Affiliated Hospital of Bengbu Medical University
Wilson Disease
Real World Evidence Study in Subjects With Wilson's Disease
This non-interventional Real-World Evidence (RWE) study aims to describe non-ceruloplasmin copper values obtained using a new NCC Speciation assay by taking a small (up to 10mLs) volume of additional blood from patients with…
- Trial name
- REASON (NCT05783687)
- Testing
- NCC-Sp Assay
- Where
- 9 sites in United States
- Volunteers
- 50 people
- Sponsor
- Orphalan
X-linked Adrenoleukodystrophy
Quality of Life in Women With X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids.
- Trial name
- X-ALD_QoL (NCT04675749)
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Leipzig University Medical Center
Glycogen Storage Disease Type II, Pompe Disease (Late-onset)
Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease
The goal of this multicentre, randomized and controlled cross-over trial is to evaluate the efficacy of a programme of Inspiratory Muscle Training in subjects with Late On-set Pompe Disease (LOPD).
- Trial name
- LOPD01 (NCT05951790)
- Testing
- Inspiratory Muscle Training (IMT), Inspiratory Muscle Training (IMT) + Air Stacking
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Don Carlo Gnocchi ETS
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