Clinical trials: Brain Disorder, Metabolic
Acute Liver Failure, Fulminant Hepatic Failure
TReatment for ImmUne Mediated PathopHysiology
TReatment for ImmUne Mediated PathopHysiology (TRIUMPH) is a multi-center, three arm, randomized, controlled trial of immunosuppressive therapy for children with acute liver failure.
- Conditions
- Acute Liver Failure, Fulminant Hepatic Failure, Hepatic Encephalopathy, Acute Liver Injury
- Trial name
- TRIUMPH (NCT04862221)
- Testing
- High-dose methylprednisolone, Equine anti-thymocyte globulin, Prednisolone
- Where
- 17 sites in United States
- Volunteers
- 44 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type II Gaucher Disease
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
- Trial name
- NCT06272149
- Testing
- VGN-R08b
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
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
GM2 Gangliosidosis, Niemann-Pick Type C Disease
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study…
- Trial name
- PRISMA (NCT07399704)
- Testing
- AZ-3102
- Where
- 3 sites in Brazil
- Volunteers
- 21 people
- Sponsor
- Azafaros B.V.
Mucolipidosis Type IV
Mucolipidosis Type IV Natural History Study
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the…
- Trial name
- NCT05782387
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
Epilepsy
Use of the Atkins Diet for Children With Intractable Epilepsy: A Comparison of Daily Carbohydrate Limits
This study is designed to further investigate the use of a modified Atkins diet for children with intractable, daily seizures. It is a follow-up to a study recently completed by our institution.
- Trial name
- NCT00181090
- Testing
- Modified Atkins diet
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Johns Hopkins University
Friedreich Ataxia
A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia
The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).
- Trial name
- MOVE-FA (NCT04577352)
- Testing
- Vatiquinone
- Where
- 14 sites in United States, Australia and 7 more
- Volunteers
- 146 people
- Sponsor
- PTC Therapeutics
Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
- Trial name
- FLY (NCT06328608)
- Testing
- PRX-102 1 mg/kg every two weeks
- Where
- 12 sites in United States, Austria and 4 more
- Volunteers
- 22 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Gaucher Disease
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
- Trial name
- NCT06523517
- Testing
- Eliglustat Tartrate Capsules
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Peking Union Medical College Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Diabetes Mellitus, Type 1, Behavior, Health
Game-based Pediatric Diabetes Education
The goal of this study is to evaluate the impact of a mobile app video game called Digital Vaccine for Type 1 Diabetes (DVx-T1D)™, proposed as a low-risk, non-invasive, digital therapeutic candidate for behavior change in…
- Trial name
- DVx-T1D (NCT06264258)
- Testing
- DVx-T1D™ app
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Carnegie Mellon University
Pompe Disease
Alglucosidase Alfa Pompe Safety Sub-Registry
To collect uniform and meaningful data on patients with Pompe disease who experience anaphylaxis, severe allergic reactions, and/or signals of severe cutaneous and/or systemic immune complex-mediated reactions following treatment…
- Trial name
- NCT01710813
- Testing
- alglucosidase alfa
- Where
- 18 sites in United States, Belgium and 4 more
- Volunteers
- 110 people
- Sponsor
- Genzyme, a Sanofi Company
Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors
Longitudinal Study of Urea Cycle Disorders
Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma.
- Conditions
- Brain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
- Trial name
- NCT00237315
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 1,500 people
- Sponsor
- Andrea Gropman
Upper Extremity Impairments, Cerebral Palsy (CP)
Obi Medical Robot: Evaluating Effectiveness Related to Usability
This mixed-methods usability study evaluates the effectiveness of the Obi Gen 3 robotic feeding device in meeting user needs among providers, caregivers, and patients.
- Conditions
- Upper Extremity Impairments, Cerebral Palsy (CP), ALS - Amyotrophic Lateral Sclerosis, Rett Syndrome
- Trial name
- NCT07151950
- Testing
- One-week trial of Obi Medical device, which provides robotic assistance with feeding to persons with upper extremity impairments who are unable to self-feed in the traditional manner using utensils
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Desin LLC
Thrombocytopenia, Metachromatic Leukodystrophy
Stem Cell Transplantation (SCT) for Genetic Diseases
OBJECTIVES: I. Ascertain whether stem cell transplantation (SCT) is an effective method by which missing or dysfunctional enzymes can be replaced in patients with various inborn errors of metabolism. II.
- Conditions
- Thrombocytopenia, Metachromatic Leukodystrophy, Fanconi's Anemia, Thalassemia Major
- Trial name
- NCT00004378
- Testing
- Stem Cell Transplantation
- Where
- United States
- Sponsor
- National Center for Research Resources (NCRR)
Phenylketonuria (PKU)
Iron Supplements Effect on b-Phe Levels in PKU Patients During 3 Years Study
This clinical trial study aims to Evaluate whether iron supplementation for 3 months may help reduce Phe blood concentration in PKU patients by enhancing the hydroxylation of Phe to tyrosine (Tyr).
- Trial name
- ISPEK (NCT06792240)
- Testing
- iron supplementation, control group
- Where
- Italy
- Volunteers
- 84 people
- Sponsor
- ASST Santi Paolo e Carlo
Friedreich's Ataxia
Long-Term Efficacy Study of Vatiquinone for the Treatment of Friedreich's Ataxia (FA)
The purpose of this study is to confirm the treatment effects of vatiquinone on the key measures of FA disease progression.
- Trial name
- PROVE-FA (NCT07681713)
- Testing
- Vatiquinone
- Where
- 9 sites in United States, Belgium and 4 more
- Volunteers
- 120 people
- Sponsor
- PTC Therapeutics
Behavioral Variant Frontotemporal Dementia (bvFTD)
Safety and Efficacy Study Evaluating TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD)
The purpose of this study is to demonstrate the safety and efficacy of TRx0237 in the treatment of patients with behavioral variant frontotemporal dementia (bvFTD).
- Trial name
- NCT01626378
- Testing
- TRx0237
- Where
- 67 sites in United States, Australia and 10 more
- Volunteers
- 220 people
- Sponsor
- TauRx Therapeutics Ltd
Neonatal Jaundice
Reliability of Transcutaneous Bilirubin Measurement According to the Skin Colour of Newborns
Neonatal jaundice is a physiological process characterized by a yellow coloration of the skin and mucous membranes linked to an increase in a pigment: bilirubin.
- Trial name
- BILICOLOR (NCT07315126)
- Testing
- Skin color assessment
- Where
- France
- Volunteers
- 510 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Niemann-Pick Diseases, Acid Sphingomyelinase Deficiency
A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
US, multicenter, cohort, open label observational study with primary data collection. Ancillary protocol-specified procedures to address the study objectives (eg, assessment of ADA) may be considered outside the standard of care…
- Trial name
- NCT06192576
- Testing
- Olipudase alfa
- Where
- 6 sites in United States
- Volunteers
- 10 people
- Sponsor
- Sanofi
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