Clinical trials: Brain Diseases, Metabolic, Inborn
Hepatocellular Carcinoma (HCC)
Triple Recipient Strategy Using Split, Domino, and Auxiliary Techniques
The investigators report a case of the simultaneous use of split liver transplantation (SLT), domino liver transplantation (DLT) and auxiliary liver transplantation (ALT) to achieve "one donor for three recipients".
- Trial name
- NCT06683820
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Rare Diseases, Fabry Disease
MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study
This study evaluates adherence to the oral chaperone therapy migalastat in patients with Fabry disease.
- Conditions
- Rare Diseases, Fabry Disease, Adherence, Medication, Quality of Life
- Trial name
- MALTA-FABRY (NCT03683966)
- Where
- Germany
- Volunteers
- 30 people
- Sponsor
- Wuerzburg University Hospital
Urea Cycle Disorders
Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients
Urea cycle disorders (UCDs) are dramatic congenital inherited metabolic disorders. There is no cure. Many novel therapeutic approaches are currently being developed, which hopefully will change the current situation.
- Trial name
- NCT05671666
- Testing
- Urea cycle flux study
- Where
- Switzerland
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Age-related Macular Degeneration
Prophylactic Ranibizumab for Exudative Age-related Macular Degeneration
This study will determine whether quarterly injections of Ranibizumab may prevent eyes with dry age-related macular degeneration from progressing to wet age-related macular degeneration (AMD).
- Trial name
- PREVENT (NCT02140151)
- Testing
- Ranibizumab 0.5mg
- Where
- 4 sites in United States
- Volunteers
- 108 people
- Sponsor
- Southern California Desert Retina Consultants, MC
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
Friedreich Ataxia
Study to Evaluate Multiple Ascending Dose and Multi-Dose of DT-216 in Adult Patients With Friedreich Ataxia
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetic, and pharmacodynamic effects of multiple doses of intravenous DT-216 in adult patients with Friedrich Ataxia.
- Trial name
- NCT05573698
- Testing
- DT-216
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Design Therapeutics, Inc.
Wilson Disease
Description of Renal Involvement in Wilson's Disease
Wilson's disease (WD) is a rare genetic disorder that leads to copper accumulation in various tissues, including the liver, nervous system, heart, and kidneys.
- Trial name
- WILKID (NCT07075393)
- Testing
- full renal workup
- Where
- France
- Volunteers
- 150 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Gaucher Disease, Hepatitis C
Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C
Study objectives: Investigate the anti-HCV response in patients with Gaucher disease(GD) Define the potential role of high levels of Glucocerebroside in the immune system Study hypothesis: High levels of Glucocerebroside can be…
- Trial name
- NCT01274208
- Where
- 2 sites in Israel
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Epilepsy, Metabolic Acidosis
Use of Sodium Bicarbonate in Patients Treated With Topiramate
Effect of oral sodium bicarbonate therapy on renal tubular acidosis in epilepsy patients taking topiramate.
- Conditions
- Epilepsy, Metabolic Acidosis, Tubular Acidosis; Renal
- Trial name
- NCT03354507
- Testing
- Sodium bicarbonate
- Where
- Canada
- Volunteers
- 40 people
- Sponsor
- McMaster Children's Hospital
Homocystinuria
Proof of Concept Creatine Supplementation for Homocystinuria Study
Homocystinuria is a rare and inherited metabolic disorder, people with this condition don't have an enzyme needed to break down an amino acid called homocysteine.
- Trial name
- NCT06495567
- Testing
- Creatine, Dietary methionine tracer and protein intake
- Where
- Canada
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Phenylketonuria (PKU)
PANDA: PKU Amino Acid Evaluation
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- PANDA (NCT04086511)
- Where
- 2 sites in Belgium, United Kingdom
- Volunteers
- 37 people
- Sponsor
- Nutricia Research
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
A Phase 2b Study of Zagociguat in Patients With MELAS
PRIZM is a Phase 2b randomized, double-blind, placebo-controlled, 3-treatment, 2-period, crossover study evaluating the efficacy and safety of oral zagociguat 15 and 30 mg vs.
- Trial name
- PRIZM (NCT06402123)
- Testing
- zagociguat 15mg, zagociguat 30mg
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 43 people
- Sponsor
- Tisento Therapeutics
Friedreich Ataxia, Cardiomyopathy, Secondary
Gene Therapy for Cardiomyopathy Associated With Friedreich's Ataxia
This is a Phase 1/2, open-label, dose-ascending, multicenter study of the safety and efficacy of LX2006 for participants who have Friedreich's Ataxia with evidence of cardiomyopathy.
- Trial name
- NCT05445323
- Testing
- Low dose LX2006, Mid Dose LX2006, High Dose LX2006
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Lexeo Therapeutics
Fabry Disease
Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease
Evaluate the safety and efficacy of Fabagal® developed by ISU ABXIS Co., Ltd., which has similar efficacy to active comparator (Agalsidase beta).
- Trial name
- NCT06081062
- Testing
- Fabagal® (Agalsidase beta), Active comparator (Agalsidase beta)
- Where
- 3 sites in Philippines, South Korea
- Volunteers
- 24 people
- Sponsor
- ISU Abxis Co., Ltd.
Gangliosidoses, GM2, Sandhoff Disease
Pyrimethamine as a Treatment for Late-Onset GM2-gangliosidosis (Tay-Sachs and Sandhoff Disease)
The objectives of this clinical trial are to assess the safety and tolerability, as well as efficacy, of a stepwise dosing regimen of pyrimethamine, starting at 25 mg/day, given as a single dose daily for 4 weeks in patients…
- Conditions
- Gangliosidoses, GM2, Sandhoff Disease, Tay-Sachs Disease
- Trial name
- NCT01102686
- Testing
- Pyrimethamine, Leucovorin
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- The Hospital for Sick Children
Gaucher Disease Type I
A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Disease Type I
This is a prospective single-center, open, single-arm, single-dose intravenous infusion study to evaluate the safety and initial efficacy, pharmacodynamic characteristics, immunogenicity, biodistribution, and viral shedding of…
- Trial name
- LY-M001 (NCT06162338)
- Testing
- LY-M001 Injection
- Where
- China
- Volunteers
- 3 people
- Sponsor
- He Huang
Pompe Disease (Late-onset)
Pompe Gene Therapy- Screening for Eligibility
The purpose of this study is to determine eligibility for the future clinical trial of gene therapy in adults with late-onset Pompe disease.
- Trial name
- NCT03285126
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- Duke University
Gut Microbiome, Gastrointestinal Microbiome
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Disease
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records.
- Conditions
- Gut Microbiome, Gastrointestinal Microbiome, Autism, Autism Spectrum Disorder
- Trial name
- NCT04031469
- Testing
- There is no intervention in this study
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- ProgenaBiome
Phenylketonuria (PKU)
PKU EASY Microtabs Plus - Acceptability and Tolerance
PEMP-AT is a prospective, single-arm, open-label, 1-week acceptability study to evaluate PKU EASY Microtabs Plus for the dietary management of participants with phenylketonuria (PKU).
- Trial name
- PEMP-AT (NCT06694662)
- Testing
- PKU EASY Microtabs Plus
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Galen Limited
Pompe's Disease
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the…
- Trial name
- DEPIPOMP1 (NCT02904395)
- Testing
- observational (no intervention)
- Volunteers
- 3,413 people
- Sponsor
- Centre Hospitalier de Cayenne
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