Clinical trials: Lipid Metabolism, Inborn Errors
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.
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.
Lipoprotein Lipase Deficiency, Familial, Hyperlipoproteinemia Type I
Pilot Study To Assess CAT-2003 in Patients With Chylomicronemia
The purpose of this study is to assess safety and efficacy of CAT-2003 in patients with chylomicronemia. The study will evaluate the effects of CAT-2003 on fasting total and chylomicron triglyceride levels, as well as…
- Conditions
- Lipoprotein Lipase Deficiency, Familial, Hyperlipoproteinemia Type I, Chylomicronemia, Familial, Hypertriglyceridemia
- Trial name
- NCT02098278
- Testing
- CAT-2003
- Where
- 2 sites in Canada
- Volunteers
- 13 people
- Sponsor
- Catabasis Pharmaceuticals
Gaucher Disease
Expanded Access Trial of Plant Expressed Recombinant Glucocerebrosidase (prGCD) in Patients With Gaucher Disease
This is an open-label expanded access trial of prGCD in patients with Gaucher disease who require enzyme replacement therapy (ERT) and who have been treated with imiglucerase but for whom the dose has been reduced or discontinued…
- Trial name
- NCT00962260
- Testing
- Plant cell expressed recombinant glucocerebrosidase (prGCD)
- Where
- 15 sites in United States, Israel
- Sponsor
- Pfizer
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
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
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus 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
Dyslipidemias, High Cholesterol
Randomized Study to Evaluate the Effect of Obicetrapib on Top of Maximum Tolerated Lipid-Modifying Therapies
This study will be a placebo-controlled, double-blind, randomized, phase 3 study in participants with underlying heterozygous familial hypercholesterolemia (HeFH) and/or ASCVD to evaluate the efficacy, safety, and tolerability of…
- Conditions
- Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- BROADWAY (NCT05142722)
- Testing
- Obicetrapib
- Where
- 181 sites in United States, China and 6 more
- Volunteers
- 2,530 people
- Sponsor
- NewAmsterdam Pharma
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
Mitochondrial Diseases, Barth Syndrome
An Intermediate Size Expanded Access Protocol of Elamipretide
Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program.
- Trial name
- NCT04689360
- Testing
- elamipretide
- Sponsor
- Stealth BioTherapeutics Inc.
Hypercholesterolemia, Familial Hypercholesterolemia
Long Term Post Marketing Specified Drug Use Result Survey for Evolocumab in Japan
The purpose of this post-marketing survey is to obtain real-world information on the safety and effectiveness of evolocumab in Japan.
- Trial name
- NCT02808403
- Testing
- No intervention
- Where
- 138 sites in Japan
- Volunteers
- 6,000 people
- Sponsor
- Amgen
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Hypertriglyceridemia, Hyperlipoproteinemia Type IV
Effect of Rosuvastatin on Triglyceride Levels in Mexican Hypertriglyceridemic Patients
The primary purpose of this trial is to determine if the treatment with rosuvastatin 10 and 20mg/day during 8 weeks in hypertriglyceridemic patients will reduce their triglyceride levels.
- Conditions
- Hypertriglyceridemia, Hyperlipoproteinemia Type IV, Hyperlipoproteinemia Type V, Hyperlipoproteinemia Type IIb
- Trial name
- NCT00473655
- Testing
- rosuvastatin
- Where
- 3 sites in Mexico
- Volunteers
- 334 people
- Sponsor
- AstraZeneca
Familial Partial Lipodystrophy
The BROADEN Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Partial Lipodystrophy
The purpose of this study is to evaluate the efficacy and safety of volanesorsen given for 52 weeks in a randomized treatment (RT) period in participants with familial partial lipodystrophy (FPL).
- Trial name
- NCT02527343
- Testing
- volanesorsen
- Where
- 12 sites in United States, Belgium and 5 more
- Volunteers
- 40 people
- Sponsor
- Akcea Therapeutics
Hypercholesterolemia, Atherosclerotic Cardiovascular Disease
Evaluation of the Efficacy and Safety of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia and Statin Intolerant
The purpose of this study is to determine if bempedoic acid (ETC-1002) is effective and safe versus placebo in patients with elevated LDL cholesterol and who are statin-intolerant.
- Conditions
- Hypercholesterolemia, Atherosclerotic Cardiovascular Disease, Statin Adverse Reaction
- Trial name
- CLEAR Serenity (NCT02988115)
- Testing
- bempedoic acid
- Where
- 67 sites in United States, Canada
- Volunteers
- 345 people
- Sponsor
- Esperion Therapeutics, 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
Generalized Lipodystrophy
A Study of the Safety of Mibavademab in Pediatric and Adult Participants Switching From Metreleptin to Mibavademab for the Treatment of Generalized Lipodystrophy (GLD)
This study is researching an experimental drug called mibavademab. The study is focused on participants with GLD who have been on metreleptin treatment for at least 6 months with no change in dose for the last 3 months.
- Trial name
- NCT06548100
- Testing
- mibavademab
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Regeneron Pharmaceuticals