Clinical trials: Brain Diseases, Metabolic, Inborn
Fabry Disease, Chronic Kidney Diseases
Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
The overall objective of this study is to investigate Fabry-associated renal organ involvement by using a novel magnetic resonance imaging (MRI) approach, focusing on changes in renal oxygen levels by blood oxygenation-level…
- Trial name
- FORTIFY (NCT06325488)
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Caroline Michaela Kistorp
Healthy Volunteers
A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together
The purpose of this study is to assess the drug-drug interaction (DDI) of repinatrabit with ethinyl estradiol/norethindrone or norethisterone (EE/NE), metformin, rosuvastatin, carbamazepine, and methotrexate in healthy…
- Trial name
- NCT07446400
- Testing
- Repinatrabit, EE/NE, Metformin
- Where
- Australia
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD).
- Conditions
- Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome
- Trial name
- NCT07478172
- Testing
- Whole-body Electrical Muscle Stimulation Exercise
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Missouri-Columbia
Tetrahydrobiopterin Deficiency
Retrospective Observational Safety Effectiveness With Kuvan in hpA
A retrospective study to collect the effectiveness and safety data of the past treatment with KUVAN in Chinese patients with HPA caused by BH4 deficiency.
- Trial name
- ROSEKA (NCT03864029)
- Testing
- KUVAN
- Where
- China
- Volunteers
- 26 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonurias, PKU
Evaluation of PKU Sphere in Italy
20 participants with PKU will build-up their dietary intake of PKU sphere over 2-16 weeks, depending on their level of metabolic control whilst doing so.
- Trial name
- NCT04679467
- Testing
- PKU sphere
- Where
- 4 sites in Italy
- Volunteers
- 13 people
- Sponsor
- Vitaflo International, Ltd
Wet Age-related Macular Degeneration
Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals
This is a prospective, randomized study that compares 8-week and 12-week follow-up intervals after the 4 monthly injections in the loading phase.
- Trial name
- NCT06875245
- Testing
- Faricimab Injection
- Where
- Czechia
- Volunteers
- 100 people
- Sponsor
- Faculty Hospital Kralovske Vinohrady
Fabry Disease
Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)
This is an open label switch over study to assess the safety and efficacy of PRX-102 (pegunigalsidase alfa). Patients treated with agalsidase alfa for at least 2 years and on a stable dose (>80% labelled dose/kg) for at least 6…
- Trial name
- NCT03018730
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 9 sites in Australia, Canada and 5 more
- Volunteers
- 22 people
- Sponsor
- Protalix
Wilsons Disease
sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis
The aim is to investigate macrophage activation markers and correlations to liver fibrosis in patients with Wilsons Disease. Researchers wish to investigate associations to neurologic and metabolic liver function.
- Trial name
- NCT02702765
- Testing
- Fibroscan, Ultrasound, Galactose
- Where
- Denmark
- Volunteers
- 33 people
- Sponsor
- University of Aarhus
Phenylketonuria
A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 Weeks
The primary objective of the study is to evaluate the effect of dosing regimens of multiple subcutaneous (SC) doses of rAvPAL-PEG to induce an early and sustained Phe reduction while decreasing the frequency and severity of…
- Trial name
- NCT01560286
- Testing
- BMN 165 (rAvPAL-PEG)
- Where
- 6 sites in United States
- Volunteers
- 24 people
- Sponsor
- BioMarin Pharmaceutical
Lafora Disease
Natural History and Functional Status Study of Patients With Lafora Disease
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for…
- Trial name
- NCT03876522
- Where
- 4 sites in United States, Italy and 1 more
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Friedreich Ataxia
Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia
The purpose of this protocol is to determine the efficacy of EGb 761 120 mg bid versus placebo in patients suffering from Friedreich Ataxia
- Trial name
- NCT00824512
- Testing
- EGb 761 120 mg
- Where
- France
- Volunteers
- 22 people
- Sponsor
- Ipsen
Late-onset Pompe Disease
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
This is a Phase 1, multicenter, open-label study to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of DNL952 in adult participants with late-onset Pompe disease.
- Trial name
- NCT07354724
- Testing
- DNL952
- Where
- 4 sites in United States
- Volunteers
- 32 people
- Sponsor
- Denali Therapeutics Inc.
Pyruvate Dehydrogenase Complex Deficiency Disease
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
Children and adults with pyruvate dehydrogenase complex deficiency (PDCD) are participating in a research study seeking to better understand the genetic causes, symptoms, usefulness of current treatments, and outcomes for these…
- Trial name
- NCT03056794
- Testing
- No intervention
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- University of Pittsburgh
Metachromatic Leukodystrophy (MLD)
Direct Lentiviral Injection Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to functionally correct the genetic defect.
- Trial name
- NCT03725670
- Testing
- Intrathecal and intravenous LV gene therapy
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Metachromatic Leukodystrophy
Single Patient Expanded Access Protocol: Metabolic Boost
This is a single patient expanded access protocol to investigate the effects of a second dose of facilitating cell-enhanced hematopoietic stem cell product.
- Trial name
- Boost (NCT02021266)
- Testing
- Enriched Hematopoetic Stem Cell Infusion
- Where
- United States
- Sponsor
- Talaris Therapeutics Inc.
Urea Cycle Disorders
Study to Evaluate 13 C Isotope Ratio Measurement for Urea Cycle Capacity Assessment
In this short-term study a method for the evaluation of the metabolic competency of the urea cycle in vivo will be assessed. In order to monitor the efficacy of new treatment options for patients with urea cycle disorders and to…
- Trial name
- NCT01002469
- Testing
- sodium [1-13C] acetate
- Where
- Germany
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
Fabry Disease
4D-310 in Adults With Fabry Disease and Cardiac Involvement
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration.
- Trial name
- NCT05629559
- Testing
- 4D-310
- Where
- 4 sites in Australia, Taiwan
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
Urea Cycle Disorders
Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical…
- Trial name
- NCT02311283
- Where
- United States
- Volunteers
- 87 people
- Sponsor
- University of South Florida
Phenylketonurias
Evaluation of PKU Sphere Liquid
PKU Sphere Liquid is a prospective, open-label, acceptability study to evaluate PKU sphere liquid in up to 15 participants aged 3 and above for the dietary management of PKU over 31 days.
- Trial name
- NCT05096988
- Testing
- PKU sphere liquid
- Where
- 3 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Vitaflo International, Ltd
Friedreich Ataxia, Cardiomyopathies
A Study to Investigate the Safety, Tolerability, and Pharmacokinetics of ATI-105 in Healthy Adults
The goal of this clinical trial is to learn how ATI-105 administered to healthy participants at works in the body at different doses and with or without food.
- Conditions
- Friedreich Ataxia, Cardiomyopathies, Central Nervous System Diseases, Neuromuscular Diseases
- Trial name
- NCT07869654
- Testing
- ATI-105
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Adjuvia Therapeutics, Inc.