Clinical trials: Brain Disorder, Metabolic
Friedreich's Ataxia
A First in Human Study of RT001 in Patients With Friedreich's Ataxia
The purpose of this study is to evaluate the safety, tolerability and pharmacokinetics of RT001 in patients with Friedreich's ataxia.
- Trial name
- NCT02445794
- Testing
- Low dose cohort, High dose cohort
- Where
- 2 sites in United States
- Volunteers
- 19 people
- Sponsor
- Biojiva LLC
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
Wilson's Disease
Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
A randomised, open-label study evaluating the pharmacokinetics, safety, and tolerability of a new once daily dose of 900mg of TETA 4HCL by comparing it against the current marketed Cuprior® formulation (450mg trientine base…
- Trial name
- NCT06128954
- Testing
- 900mg TETA 4HCl Once Daily Formulation, 900mg TETA 4HCl Cuprior®
- Where
- United Kingdom
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Orphalan
Alzheimer's Disease (AD), Neurodegenerative Disease
A Biomarker-chip Assay in Preserved Red Blood Cells for the Diagnosis of Alzheimer's Disease
The ADCHIP study (ST0067) is a non-interventional, monocentric, prospective study conducted by Amoneta Diagnostics and the Leenaards Memory Center (Lausanne, Switzerland).
- Conditions
- Alzheimer's Disease (AD), Neurodegenerative Disease, Dementia, Frontotemporal Dementia (FTD)
- Trial name
- ADCHIP (NCT07307872)
- Where
- Switzerland
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Amoneta Diagnostics SAS
Healthy Volunteers, OTC Deficiency
Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
The objective of this clinical study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single and multiple ascending doses of CMP-CPS-001 administered as a subcutaneous injection in adult healthy…
- Trial name
- NCT06247670
- Testing
- CMP-CPS-001
- Where
- 2 sites in Australia, Netherlands
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- CAMP4 Therapeutics Corporation
Hepatic Encephalopathy
Safety and Tolerability Study of Rifaximin in Participants With a History of Hepatic Encephalopathy
This study will look at the safety of a drug used in participants who have had hepatic encephalopathy (HE) in the past.
- Trial name
- NCT00686920
- Testing
- Rifaximin
- Where
- 35 sites in United States, Canada
- Volunteers
- 322 people
- Sponsor
- Bausch Health Americas, Inc.
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
PKU, Phenylketonurias
Market Research - Acceptability Study for a New PKU 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
- NCT04318509
- Testing
- GMPOWER
- Where
- 2 sites in United Kingdom
- Volunteers
- 8 people
- Sponsor
- Dr. Schär AG / SPA
Parkinson Disease, Amyotrophic Lateral Sclerosis
Study of AMDX-2011P as a Retinal Tracer in Subjects With Neurodegenerative Diseases Associated With Amyloidogenic Proteinopathy
The purpose of this research study is to assess safety and tolerability of a single intravenous (given through a vein) dose of the investigational retinal tracer AMDX-2011P in patients with neurodegenerative diseases (Parkinson's…
- Trial name
- PROBE (NCT05542576)
- Testing
- AMDX2011P
- Where
- 2 sites in United States
- Volunteers
- 13 people
- Sponsor
- Amydis Inc.
Alzheimer's Disease
Effects of Triglycerides on Age-Related Cognitive Function Decline in Older Subjects
This is a single centre, 2 part study in older subjects. Part 1 (Pharmacokinetic [PK] Assessment) is a double blind, randomized, placebo-controlled 4-period crossover study investigating the PK profile of four different doses of…
- Trial name
- NCT01702480
- Testing
- GSK2981710
- Where
- United Kingdom
- Volunteers
- 116 people
- Sponsor
- GlaxoSmithKline
Wilsons Disease
A Clinical Study on the Treatment of Wilson Disease With ATP7B mRNA/LNP (DSL101)
This study adopted an open, single-arm, non-randomized, dose-escalation research design, aiming to evaluate the safety, tolerability, preliminary efficacy, pharmacokinetic and immunogenicity characteristics of single and multiple…
- Trial name
- NCT07240896
- Testing
- Group 1: DSL101 Low dose, Group 2: DSL101 Medium dose, Group 3: DSL101 High dose
- Where
- China
- Volunteers
- 18 people
- Sponsor
- DSciLab Co., Ltd.
Friedreich Ataxia
Single Ascending Dose Study of CTI-1601 Versus Placebo in Subjects With Friedreich's Ataxia
To evaluate the safety and tolerability of single ascending doses of CTI-1601 in participants with Friedreich's ataxia
- Trial name
- NCT04176991
- Testing
- CTI-1601
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Larimar Therapeutics, Inc.
Phenylketonuria
A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria
The primary purpose of this study is to assess the safety and tolerability of AG-181 in subjects with Phenylketonuria (PKU).
- Trial name
- NCT07241234
- Testing
- AG-181
- Where
- 5 sites in United States, Poland
- Volunteers
- 20 people
- Sponsor
- Agios Pharmaceuticals, Inc.
X-Linked Adrenoleukodystrophy
A Study to Prospectively Assess Disease Progression in Male Children With X-ALD
This is a non-interventional, multi-center study that follows general principles of periodic assessment of X-ALD patients in routine practice.
- Trial name
- NCT03278899
- Where
- 3 sites in United States
- Volunteers
- 100 people
- Sponsor
- NeuroVia, Inc.
Sphingomyelin Lipidosis
Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)
The objective of this program is to provide access to enzyme replacement therapy (ERT) with olipudase alfa for certain patients with ASMD, a severe, life threatening disease, that could not participate in the olipudase clinical…
- Trial name
- NCT04877132
- Testing
- olipudase alfa (GZ402665)
- Sponsor
- Sanofi
Fabry Disease
Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
Study to compare the efficacy and safety of migalastat and enzyme replacement therapy (ERT) in male and female participants with Fabry disease who are currently receiving ERT and who have an alpha galactosidase-A (α Gal-A)…
- Trial name
- NCT01218659
- Testing
- migalastat hydrochloride, agalsidase
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 68 people
- Sponsor
- Amicus Therapeutics
Arginase I Deficiency, Hyperargininemia
A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency
A Phase 1/2 Open-label Study in Patients with Arginase I Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous AEB1102.
- Trial name
- NCT02488044
- Testing
- AEB1102
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 16 people
- Sponsor
- Aeglea Biotherapeutics
Ataxia-Telangiectasia (A-T)
Expanded Access Program (EAP) of Levacetylleucine for Ataxia-Telangiectasia (A-T)
This expanded access program provides investigational levacetylleucine to patients with Ataxia-Telangiectasia who are not eligible for clinical trials and have no satisfactory alternative therapies.
- Trial name
- NCT07380165
- Testing
- Levacetylleucine
- Sponsor
- IntraBio Inc
Fabry Disease
Fabry Outcome Survey (FOS)
The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease.
- Trial name
- FOS (NCT03289065)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Shire
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.