Clinical trials: Metabolism, Inborn Errors
Healthy Volunteers
A Study to Compare the Relative Bioavailability of Two Iberdomide (CC-220) Formulations and to Assess The Effect Of Food on the Drug Levels of Iberdomide in Healthy Adult Participants
The purpose of this study is to evaluate the relative bioavailability for the new iberdomide powder for reconstitution formulation relative to the reference capsule formulation and to assess the effect of food on the…
- Trial name
- NCT05899738
- Testing
- Iberdomide
- Where
- United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Bristol-Myers Squibb
Batten Disease, CLN6
Natural History of Neuronal Ceroid Lipofuscinosis, Batten's CLN6 Diseae
CLN6 is a rare, neurodegenerative disease that causes progressive loss of acquired skills with motor delay, visual loss, seizures and ataxia.
- Trial name
- Batten'sCLN6 (NCT03285425)
- Testing
- Natural history
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Emily de los Reyes
Hereditary Hemochromatosis
Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis (HH)
The purpose of this study was to evaluate the efficacy and safety of deferasirox film coated tablet (FCT) versus phlebotomy for the management of iron overload in adults with Hereditary Hemochromatosis (HH) at risk of…
- Trial name
- NCT03203850
- Testing
- Deferasirox FCT, Phlebotomy
- Where
- 11 sites in Belgium, France and 5 more
- Volunteers
- 45 people
- Sponsor
- Novartis Pharmaceuticals
Cytomegalovirus Retinitis, HIV Infections
The Safety and Effectiveness of Ganciclovir in the Prevention of Cytomegalovirus (CMV) of the Eyes and Disease of the Stomach and Intestines in Patients With HIV
To evaluate the safety and efficacy of oral ganciclovir for prophylaxis against cytomegalovirus (CMV) retinal and gastrointestinal mucosal disease in HIV-infected patients with severe immunosuppression.
- Conditions
- Cytomegalovirus Retinitis, HIV Infections, Gastrointestinal Diseases
- Trial name
- NCT00001034
- Testing
- Ganciclovir
- Where
- 17 sites in United States
- Volunteers
- 850 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Gout, Hyperuricemia
A Study to Assess Efficay and Safety of LC350189 Different Doses in Gout Patients With Hyperuricemia
The aim of this 12-week randomized multicenter double-blind parallel group placebo-controlled dose finding study is to assess the efficacy and safety of three different doses of LC350189 in subjects with hyperuricemia and a…
- Trial name
- NCT03934099
- Testing
- LC350189 formulated capsule
- Where
- 34 sites in United States
- Volunteers
- 156 people
- Sponsor
- LG Chem
GSD1
Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)
The primary objective of the study is to determine the safety of single doses of DTX401, including the incidence of dose-limiting toxicities (DLTs) at each dose level.
- Trial name
- NCT03517085
- Testing
- DTX401, steroid regimen
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Amyloid Cardiomyopathy
Genistein in trAnSthyretin recePtor Amyloid caRdiomyopathy
This Phase 1b/2a study aims to investigate the safety and efficacy of genistein in patients with Transthyretin (TTR) Amyloidosis.
- Trial name
- GASPAR (NCT06634108)
- Testing
- Genistein
- Where
- Canada
- Volunteers
- 20 people
- Sponsor
- London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Parkinson's Disease, Gaucher's Disease
Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease
The investigators are interested in determining if the investigators are able to detect changes in brain chemistry using Magnetic Resonance Spectroscopy (MRS) in individuals with Parkinson's disease (PD), those with Gaucher's…
- Trial name
- NCT01427517
- Testing
- N-acetylcysteine
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Minnesota
Fabry Disease
Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
A longitudinal pilot study will be conducted to determine if there are additional testing modalities that are effective in broadly phenotyping subclinical dysfunction in patients with Fabry disease.
- Trial name
- VDFP (NCT05699265)
- Testing
- Measures of arterial stiffness and endothelial function, Ambulatory blood pressure monitoring, Cardiopulmonary exercise testing (CPET)
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Propionic Acidemia
AAVrh10-PCCA Gene Therapy for Propionic Acidemia
Propionic acidemia is a genetic metabolic disorder characterized by metabolic acidosis, ketosis, vomiting, lethargy, cognitive impairment, and risk of death.
- Trial name
- NCT07643844
- Testing
- AAVrh10-PCCA low dose, AAVrh10-PCCA middle dose, AAVrh10-PCCA high dose
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
The study quantitates behavioral challenges in mucopolysaccharidosis type I-III and parental coping strategies
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type III, Behavior Disorders
- Trial name
- NCT03161171
- Testing
- This is an observational study
- Where
- Germany
- Volunteers
- 34 people
- Sponsor
- University Hospital Heidelberg
Hereditary Tyrosinemia, Type I
Bioequivalence Study of Two Nitisinone Formulations Compared to Orfadin
The purpose of this study is to determine whether Nitisinone 10 mg Tablets (Test Product 1 (TP1)) and Nitisinone 10 mg Tablets High Compritol (Test Product 2 (TP2)) are bioequivalent to the reference product Orfadin 10 mg…
- Trial name
- NCT02750709
- Testing
- Nitisinone, Nitisinone 10 mg Tablet High Compritol, Orfadin
- Where
- South Africa
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Malaria
Innate and Acquired Resistance to Plasmodium Falciparum Malaria in Mali
This study, sponsored by NIAID and the University of Bamako, Mali, will identify genetic and other factors that may protect against severe malaria in some children.
- Trial name
- NCT00669084
- Where
- Mali
- Volunteers
- 1,718 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Primary Hyperoxaluria Type 1, PH1
Study of YOLT-203 in Children and Adults With Primary Hyperoxaluria Type 1 (PH1)
This study will be conducted to evaluate the efficacy and safety of YOLT-203 in children and adults with Primary Hyperoxaluria Type 1.
- Trial name
- NCT07587021
- Testing
- YOLT-203
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- YolTech Therapeutics Co., Ltd
Primary Hyperoxaluria Type I
Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate
In this study the investigators will prospectively analyze the reduction of urinary oxalate excretion under the treatment with PLP in dosages of 5mg/kg/day up to 20 mg/kg/day and serum level response relationship with PLP as an…
- Trial name
- PHOX-B6-Pilot (NCT01281878)
- Testing
- Vitamin B 6
- Where
- Germany
- Volunteers
- 12 people
- Sponsor
- University of Cologne
Amyloidosis, AL Amyloidosis
BE.Amycon Biobank & Data Registry UZ Leuven
The goal of this study is to collect and store human body material (HBM) of patients with amyloidosis in a biobank "BE.Amycon biobank" for future research and to collect clinical data of patients with amyloidosis in a database…
- Conditions
- Amyloidosis, AL Amyloidosis, Amyloidosis Cardiac
- Trial name
- NCT07172243
- Where
- 2 sites in Belgium
- Volunteers
- 505 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Muscular Dystrophies
The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies
The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue.
- Trial name
- NCT00674843
- Testing
- Far Infrared Radiation
- Where
- Canada
- Volunteers
- 4 people
- Sponsor
- GAAD Medical Research Institute Inc.
Niemann-Pick Disease, Type C
Safety and Tolerability Study of VTS-270 in Pediatric Participants With Niemann-Pick Type C (NPC) Disease
This is a Phase-2, multicenter, multiple dose, open-label, 2-part evaluation study which will primarily assess the safety and tolerability of VTS-270 (2-hydroxypropyl beta-cyclodextrin [HP-β-CD]) in pediatric participants with…
- Trial name
- NCT03687476
- Testing
- VTS-270
- Sponsor
- Vtesse, LLC, a Mallinckrodt Pharmaceuticals Company
Leukemia, Myeloid, Acute, Leukemia, B-cell
Precision Exercise in Children With Malignant Hemopathies
In the early years of life and during adolescence, physical activity is crucial for good development of motor skills. It is even more so for those children and young people who are forced to undergo anti-cancer therapies and…
- Conditions
- Leukemia, Myeloid, Acute, Leukemia, B-cell, Leukemia, T Cell, Lymphoma, Hodgkin
- Trial name
- SportTherapy (NCT04090268)
- Testing
- Sport Therapy
- Where
- Italy
- Volunteers
- 380 people, healthy volunteers welcome
- Sponsor
- University of Milano Bicocca
Hyperlipoproteinemia Type II, Homozygous Familial Hypercholesterolemia
Efficacy and Tolerability of Anacetrapib Added to Ongoing Lipid-Lowering Therapy in Adult Participants With Homozygous Familial Hypercholesterolemia (HoFH) (MK-0859-042)
This study will evaluate the safety and effect of anacetrapib on low-density lipoprotein-cholesterol (LDL-C) when added to ongoing lipid-lowering therapy.
- Trial name
- NCT01841684
- Testing
- Anacetrapib
- Volunteers
- 2 people
- Sponsor
- Merck Sharp & Dohme LLC
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