Clinical trials: Lipid Metabolism, Inborn Errors
Homozygous Familial Hypercholesterolemia
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to <18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and…
- Trial name
- SPRUCE (NCT07473843)
- Testing
- Zodasiran
- Where
- 3 sites in United States, Denmark and 1 more
- Volunteers
- 10 people
- Sponsor
- Arrowhead Pharmaceuticals
Heterozygous Familial Hypercholesterolemia (HeFH)
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
A phase 1/2, two-part trial consisting of an open label dose-escalation part and a randomized, double blind, placebo-controlled part to investigate safety, tolerability, pharmacokinetics, and efficacy with EDIT-401 gene editing…
- Trial name
- NCT07894887
- Testing
- Drug: EDIT-401
- Where
- 2 sites in Australia
- Volunteers
- 56 people
- Sponsor
- Editas Medicine, Inc.
Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors
Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders
Preventive measures are increasingly coming to the forefront of medicine. Many of these measures can be implemented as early as childhood and adolescence.
- Conditions
- Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Congenital Heart Disease, Inflammatory Bowel Disease (IBD)
- Trial name
- FAMELIPIDCHILD (NCT07716488)
- Testing
- blood test, questionaire
- Where
- Germany
- Volunteers
- 600 people
- Sponsor
- Alexandra Miriam Kiess
Krabbe Disease
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
This is a non-blinded, non-randomized dose escalation study of intravenous FBX-101 in which subjects will receive a single infusion of an adeno-associated virus gene therapy product, after more than 21 days of the HSCT (UCBT…
- Trial name
- REKLAIM (NCT05739643)
- Testing
- FBX-101
- Where
- 3 sites in United States
- Volunteers
- 9 people
- Sponsor
- Forge Biologics, Inc
Dyslipidemias, High Cholesterol
Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
This study will be a placebo-controlled, double-blind, randomized, phase 3 study to Evaluate the Efficacy, Safety, and Tolerability of Obicetrapib in Participants with a History of Heterozygous Familial Hypercholesterolemia…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROOKLYN (NCT05425745)
- Testing
- Obicetrapib
- Where
- 96 sites in United States, Canada and 8 more
- Volunteers
- 354 people
- Sponsor
- NewAmsterdam Pharma
Familial Chylomicronemia Syndrome
Olezarsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS)
The purpose of the Expanded Access Program is to provide pre-approval access of olezarsen to eligible patients with Familial Chylomicronemia Syndrome (FCS).
- Trial name
- NCT06360237
- Testing
- Olezarsen
- Where
- United States
- Sponsor
- Ionis Pharmaceuticals, Inc.
Cholesterol, HDL, Lipid Metabolism, Inborn Errors
Mendelian Reverse Cholesterol Transport Study
The purpose of this study is to investigate the use of radiolabeled particulate cholesterol administered intravenously in association with albumin, as a method to study reverse cholesterol transport (RCT) in people carrying…
- Conditions
- Cholesterol, HDL, Lipid Metabolism, Inborn Errors, Tangier Disease, LCAT Deficiency
- Trial name
- NCT01782027
- Testing
- 3H-cholesterol bound to albumin
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Lipid Metabolism, Inborn Errors, Heart Disease
Sitosterolemia Extension Study (0653-003)(COMPLETED)
This is an extension study for patients having unusually high absorption of non-cholesterol sterols, resulting in heart-related diseases.
- Trial name
- NCT00092807
- Testing
- MK0653, ezetimibe
- Volunteers
- 37 people
- Sponsor
- Organon and Co
Lipid Metabolism, Inborn Errors, Heart Disease
Sitosterolemia Extension Study (0653-004)(COMPLETED)
This is an extension study for patients having unusually high absorption of non-cholesterol sterols, resulting in heart-related diseases.
- Trial name
- NCT00092820
- Testing
- MK0653, ezetimibe
- Volunteers
- 58 people
- Sponsor
- Organon and Co
Hypercholesterolemia, Familial, Lipid Metabolism, Inborn Errors
Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
The purpose of this study is to provide an investigational drug to patients with a specific type of hypercholesterolemia (high cholesterol) or sitosterolemia (unusually high absorption of non-cholesterol sterols) in a treatment…
- Trial name
- NCT00092833
- Testing
- Comparator: ezetimibe
- Volunteers
- 49 people
- Sponsor
- Organon and Co
Lipid Metabolism, Inborn Errors, Heart Disease
An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)
This is a 6-month study with patients who have the rare disease, sitosterolemia which may result in heart-related diseases. These patients have unusually high absorption of non-cholesterol sterols, resulting in heart-related…
- Trial name
- NCT00092898
- Testing
- MK0653, ezetimibe
- Volunteers
- 30 people
- Sponsor
- Organon and Co
Lipoprotein Lipase Deficiency, Inborn Error of Lipid Metabolism
Biomarker for Homozygous Familial Hypercholesterolemia (BioHoFH)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Homozygous familial Hypercholesterolemia from blood
- Conditions
- Lipoprotein Lipase Deficiency, Inborn Error of Lipid Metabolism, Corneal Arcus
- Trial name
- BioHoFH (NCT03198897)
- Where
- 4 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Familial Chylomicronemia
Volanesorsen Early Access Program for Patients With Familial Chylomicronemia Syndrome (FCS)
The purpose of this program is to provide expanded access to volanesorsen for up to 100 Patients with Familial Chylomicronemia Syndrome (FCS).
- Trial name
- NCT03544060
- Testing
- Volanesorsen
- Sponsor
- Akcea Therapeutics
Lysosomal Storage Diseases, Gaucher Disease
Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease
International, multicenter, epidemiological study to demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the…
- Conditions
- Lysosomal Storage Diseases, Gaucher Disease, Sphingolipidoses
- Trial name
- LYSO-PROOF (NCT02416661)
- Where
- 8 sites in Albania, Greece and 5 more
- Volunteers
- 299 people
- Sponsor
- CENTOGENE GmbH Rostock
Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD)
Natural History Study of Children With Metachromatic Leukodystrophy
The purpose of this study is evaluate the natural course of disease progression related to gross motor function in children with metachromatic leukodystrophy (MLD).
- Conditions
- Lipid Metabolism Disorders, Metachromatic Leukodystrophy (MLD), Nervous System Diseases, Brain Diseases
- Trial name
- NCT01963650
- Where
- 14 sites in United States, Argentina and 8 more
- Volunteers
- 1 people
- Sponsor
- Shire
Familial Chylomicronemia Syndrome, Lipoprotein Lipase Deficiency
Phase 2 Study of AKCEA-ANGPTL3-LRx (ISIS 703802) in Participants With Familial Chylomicronemia Syndrome (FCS)
This is a single center, open-label study to evaluate the efficacy of AKCEA-ANGPTL3-LRx for reduction of triglyceride (TG) levels in participants with FCS.
- Conditions
- Familial Chylomicronemia Syndrome, Lipoprotein Lipase Deficiency, Hyperlipoproteinemia Type 1
- Trial name
- NCT03360747
- Testing
- AKCEA-ANGPTL3-LRx
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Akcea Therapeutics
Farber Disease, Farber's Disease
Farber Disease Natural History Study
The primary objective of this study is to establish the natural history of Farber disease (acid ceramidase deficiency) through the collection and analysis of retrospective and prospective data on patients diagnosed with Farber…
- Conditions
- Farber Disease, Farber's Disease, Farber Lipogranulomatosis, Acid Ceramidase Deficiency
- Trial name
- NCT03233841
- Where
- 15 sites in United States, Argentina and 7 more
- Volunteers
- 45 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Lysosomal Acid Lipase Deficiency
Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency
This study evaluated the safety and efficacy of sebelipase alfa in a broad population of participants with lysosomal acid lipase deficiency (LAL-D).
- Trial name
- NCT02112994
- Testing
- Sebelipase Alfa
- Where
- 19 sites in United States, Australia and 13 more
- Volunteers
- 31 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Mevalonic Aciduria, Mevalonate Kinase Deficiency
Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
Participants wanted for study of mevalonate kinase deficiency (MKD), mevalonic aciduria, or hyperimmunoglobulinemia with periodic fever syndrome (HIDS).
- Conditions
- Mevalonic Aciduria, Mevalonate Kinase Deficiency, Immune System Diseases, Periodic Fever Syndromes, Hereditary
- Trial name
- NCT00260299
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University