Clinical trials: Lipid Metabolism, Inborn Errors
Familial Chylomicronemia Syndrome, Lipoprotein Lipase Deficiency
The Approach Open Label Study: A Study of Volanesorsen (Formerly IONIS-APOCIIIRx) in Participants With Familial Chylomicronemia Syndrome
An open-label study of volanesorsen (ISIS 304801) administered subcutaneously to participants with FCS.
- Conditions
- Familial Chylomicronemia Syndrome, Lipoprotein Lipase Deficiency, Hyperlipoproteinemia Type 1
- Trial name
- NCT02658175
- Testing
- Volanesorsen
- Where
- 34 sites in United States, Brazil and 9 more
- Volunteers
- 68 people
- Sponsor
- Akcea Therapeutics
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
GM1 Gangliosidosis, GM1 Gangliosidosis, Type I
Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
PBGM01 is a gene therapy for GM1 gangliosidosis intended to deliver a functional copy of the GLB1 gene to the brain and peripheral tissues.
- Conditions
- GM1 Gangliosidosis, GM1 Gangliosidosis, Type I, GM1 Gangliosidosis, Type 2, Beta-Galactosidase-1 (GLB1) Deficiency
- Trial name
- Imagine-1 (NCT04713475)
- Testing
- PBGM01
- Where
- 7 sites in United States, Brazil and 2 more
- Volunteers
- 26 people
- Sponsor
- Gemma Biotherapeutics
Familial Hypercholesterolemia
A Prospective Cohort Study on Familial Hypercholesterolemia in Health Examination Population
To determine the prevalence and the prognosis in a corhort of patients with familial hypercholesterolemia (FH).
- Trial name
- NCT04958629
- Testing
- familial hypercholesterolemia
- Volunteers
- 318 people
- Sponsor
- Peking University Third Hospital
Fabry Disease
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene.
- Trial name
- NCT05698901
- Testing
- Agalsidase beta
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Mackay Memorial Hospital
Familial Hypercholesterolemia, Familial Hypercholesterolemia Due to Genetic Defect of Apolipoprotein B
Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia
ACCURATE will test the hypothesis that opportunistic genetic testing for Familial Hypercholesterolemia (FH) in patients admitted to hospital with an acute coronary syndrome will increase the diagnosis of FH and will impact…
- Conditions
- Familial Hypercholesterolemia, Familial Hypercholesterolemia Due to Genetic Defect of Apolipoprotein B, Familial Hypercholesterolemia Due to Heterozygous LDL Receptor Mutation, Familial Hypercholesterolemia - Heterozygous
- Trial name
- ACCURATE (NCT05218005)
- Testing
- Research-based genetic test for Familial Hypercholesterolemia
- Where
- 2 sites in Canada
- Volunteers
- 140 people
- Sponsor
- University of British Columbia
Hypercholesterolemia, Familial
Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
The aim of this study is to assess the safety and efficacy of varying doses of ISIS 301012 as add-on therapy in subjects with Homozygous Familial Hypercholesterolemia
- Trial name
- NCT00280995
- Testing
- ISIS 301012
- Where
- 6 sites in United States, Netherlands
- Volunteers
- 12 people
- Sponsor
- Kastle Therapeutics, LLC
Niemann-Pick Disease, Type C
N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Niemann-Pick type C disease (NPC).
- Trial name
- NCT03759639
- Testing
- IB1001
- Where
- 9 sites in United States, Germany and 3 more
- Volunteers
- 33 people
- Sponsor
- IntraBio Inc
Abetalipoproteinemia
Vitamin Replacement in Abetalipoproteinemia
This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms in these patients.
- Trial name
- NCT00004574
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Hypercholesterolemia, Hyperbilirubinemia
Study of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old
Reaching active aging makes it important to implement new methods affecting the biological age of a person. Biochemical parameters of a blood test are aging biomarkers that are ones of the most accessible for testing.
- Conditions
- Hypercholesterolemia, Hyperbilirubinemia, Hyper IgE Syndrome, Hyper Beta Lipoproteinemia
- Trial name
- NCT04897113
- Testing
- plasma exchange with albumin, plasma exchange without albumin
- Where
- 2 sites in Russia
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- National Medical Research Center for Rehabilitation and Balneology
Acid Sphingomyelinase Deficiency (ASMD)
Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France
Primary Objective: To describe the lung, spleen and liver outcomes of olipudase alfa Secondary Objectives: To describe the patient's characteristics To describe conditions of olipudase alfa use To describe safety data related to…
- Trial name
- OPERA (NCT05359276)
- Testing
- Olipudase alfa
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Sanofi
Fabry Disease
Enzyme Replacement Therapy in Fabry Disease
Fabry disease is an X-linked rare metabolic disease, caused by a deficient activity of the hydrolase α-Galactosidase A, and characterized by a progressive and systematic deposition of glycosphingolipids in many organs.
- Trial name
- NCT00149318
- Testing
- Biochemical analyses.
- Where
- Italy
- Volunteers
- 2 people
- Sponsor
- Mario Negri Institute for Pharmacological Research
Hypobetalipoproteinemias
Study of the Absorption of Vitamin E Water-soluble Form (Pegylated) in the Familial Hypocholesterolemia With Chylomicron Retention
To evaluate the kinetics of intestinal absorption of vitamin E water-soluble form from the classical lipid-soluble form in a population of patients with intestinal malabsorption (hypocholesterolemias family by retention of…
- Trial name
- VEDROP (NCT01457690)
- Testing
- Tocofersolan, tocopherol alpha, Tocofersolan and tocopherol alpha
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Bio-equivalence Study, Fed Conditions
Fed Bioequivalence Study of CBZ Formulations
Controlled release Carbamazepine (CBZ) is a antiepileptic, antineuralgic and mood stabilizer drug. The CR formulation of CBZ is slowly absorbed and the elimination half life varies with time due to metabolism autoinduction.
- Trial name
- NCT02132897
- Testing
- Auration CR Tablets 400 Single Dose-Tegretol CR 400 Single Dose, Tegretol CR 400 Single Dose-Auration CR 400 Single Dose
- Where
- Uruguay
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Center for Clinical Pharmacology Research Bdbeq S.A.
Familial Hypercholesterolaemia
Computerized Decision Support for Identification and Management of Familial Hypercholesterolemia
The goal of this clinical trial is to learn if a computer alert can aid clinicians in identifying patients with a genetic type of high cholesterol, called Familial Hypercholesterolemia.
- Trial name
- FH-ALERT (NCT06743659)
- Testing
- Alert-based computerized decision support
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- Brigham and Women's Hospital
Gaucher Disease, Thrombocytopathy
Thrombocytopathy in Gaucher Disease Patients
In Gaucher disease type I bleeding is a common presenting symptom, that may manifest itself as frequent nose bleeds, easy bruising but can also cause substantial bleeding after surgical or dental procedures and may occur in…
- Trial name
- NCT01344096
- Where
- 2 sites in Israel
- Volunteers
- 70 people
- Sponsor
- Rabin Medical Center
Primary Hypercholesterolemia, Mixed Hyperlipidemia
Lipid Efficacy Study (0524B-022)(COMPLETED)
This is a 12-week clinical trial in patients with primary hypercholesterolemia or mixed hyperlipidemia, studying the effects of coadministered MK0524B on lipids. There will be 6 scheduled clinic visits, and 7 treatment arms.
- Trial name
- NCT00269217
- Testing
- niacin (+) laropiprant (+) simvastatin, Comparator: niacin (+) laropiprant, Comparator: simvastatin
- Volunteers
- 1,400 people
- Sponsor
- Merck Sharp & Dohme LLC
Type 2 Gaucher Disease
Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher Disease
This study will use an experimental method of delivering the enzyme glucocerebrosidase directly into the brain of a patient with Gaucher disease to treat disease symptoms.
- Trial name
- NCT00244582
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease
The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on…
- Trial name
- NCT01196871
- Testing
- Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 20 people
- Sponsor
- Amicus Therapeutics
Gaucher Disease, Gaucher Disease Type 1
Study of Velaglucerase Beta ERT in Children With Gaucher Disease
This is a Phase 3, multicenter, open-label, single-arm study to evaluate the safety, efficacy, PK, PD, and immunogenicity of velaglucerase beta in untreated children with GD1 or GD3 for 39 weeks.
- Conditions
- Gaucher Disease, Gaucher Disease Type 1, Gaucher Disease Type 3
- Trial name
- NCT07847411
- Testing
- Velaglucerase beta
- Where
- China
- Volunteers
- 10 people
- Sponsor
- CANbridge Life Sciences Ltd.
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