Clinical trials: Inborn Errors of Metabolism
Fabry Disease, Proteinuria
The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study
The primary hypothesis is that titration of ACE inhibitor and Angiotensin Receptor Blockers (ARBs)to reduce urine protein excretion to < 500 mg per day in Fabry Patients receiving agalsidase beta therapy at 1 mg/kg every two…
- Trial name
- FAACET (NCT00446862)
- Testing
- enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
- Where
- 6 sites in United States, Slovenia
- Volunteers
- 36 people
- Sponsor
- University of Alabama at Birmingham
Gaucher Disease, HCV
Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.
This prospective open label study is designed to screen all available Gaucher disease patients [either on enzyme replacement therapy (ERT) or not] for hepatitis C virus (HCV) infection.
- Trial name
- NCT03721627
- Testing
- Ledipasvir/Sofosbuvir
- Where
- Egypt
- Volunteers
- 10 people
- Sponsor
- Mansoura University Children Hospital
Homocystinuria
Study of Homocysteine Metabolism in Homocystinuria
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate…
- Trial name
- NCT00004356
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Lysosomal Acid Lipase Deficiency, Obesity
Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have assessed LAL activity in morbid obesity.
- Conditions
- Lysosomal Acid Lipase Deficiency, Obesity, Ketogenic Dieting, Ketosis
- Trial name
- NCT03564002
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Of Perugia
Lactose Intolerance
Effect of B.Bifidum 900791 Intake in Adult With Hypolactasia and Lactose Intolerance
Lactase is high in the newborn intestine, allowing him to digest the high amounts of lactose present in breastmilk. From weaning, lactase is genetically programmed to decrease, reaching residual levels in the adult.
- Trial name
- NCT03952988
- Testing
- Probiotic ice cream
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Chile
Primary Hyperoxaluria, Primary Hyperoxaluria Type 1 (PH1)
A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1
The purpose of this study is to evaluate the efficacy, safety, pharmacokinetics (PK), and pharmacodynamics (PD) of lumasiran in infants and young children with confirmed primary hyperoxaluria type 1 (PH1).
- Trial name
- ILLUMINATE-B (NCT03905694)
- Testing
- Lumasiran
- Where
- 9 sites in United States, France and 3 more
- Volunteers
- 18 people
- Sponsor
- Alnylam Pharmaceuticals
Fabry Disease
Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease
This study aimed to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease.
- Trial name
- MODIFY (NCT03425539)
- Testing
- Lucerastat
- Where
- 49 sites in United States, Australia and 12 more
- Volunteers
- 118 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Metabolism, Inborn Errors, Granulomatous Disease, Chronic
Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders
OBJECTIVES: I. Determine the safety of total body irradiation and fludarabine followed by allogeneic peripheral blood stem cell or bone marrow transplantation in combination with cyclosporine and mycophenolate mofetil for…
- Trial name
- NCT00010361
- Testing
- cyclosporine, fludarabine, mycophenolate mofetil
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Fred Hutchinson Cancer Center
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
The overall objective of this drug trial is to determine whether the treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG, Carglumic acid) in propionic acidemia (PA), methylmalonic acidemia (MMA), late-onset CPS1…
- Conditions
- Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
- Trial name
- STO (NCT01599286)
- Testing
- Carbaglu
- Where
- 9 sites in United States
- Volunteers
- 35 people
- Sponsor
- Mendel Tuchman
Fabry Disease
Real World Evidence Study of Danish Fabry Patients
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely…
- Trial name
- RWE-FABRY (NCT06303466)
- Where
- Denmark
- Volunteers
- 115 people
- Sponsor
- Caroline Michaela Kistorp
Cardiovascular Diseases, Atherosclerotic Cardiovascular Disease
A Real-World Study of Long-Term Adherence and Persistence to Inclisiran, Evolocumab, and Alirocumab
This study aims to evaluate the long-term adherence and persistence to inclisiran and anti-proprotein convertase subtilisin/kexin type 9 (PCSK9) monoclonal antibodies (mAbs) in real-world clinical practice.
- Conditions
- Cardiovascular Diseases, Atherosclerotic Cardiovascular Disease, Hypercholesterolemia, Familial
- Trial name
- VICTORION-LEAP (NCT07543731)
- Where
- Switzerland
- Volunteers
- 5,995 people
- Sponsor
- Novartis Pharmaceuticals
Neimann-Pick Disease
Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
Niemann-Pick disease type C (NPC) is a lethal, autosomal recessive, lysosomal storage disorder characterized by neurodegeneration in early childhood and death in adolescence.
- Trial name
- NCT02124083
- Testing
- Vorinostat
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Alzheimer's Disease, Brain Neoplasm
PET Scan of Brain Metabolism in Relation to Age and Disease
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients.
- Conditions
- Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
- Trial name
- NCT00001972
- Testing
- 15 O Water
- Where
- United States
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Metabolic Syndrome, Familial Hypertriglyceridemia
Effects of FXR Activation on Hepatic Lipid and Glucose Metabolism
The purpose of this study is to determine whether chenodeoxycholic acid decreases de novo hepatic lipogenesis, hepatic fat content, hepatic triglyceride production and plasma triglyceride concentrations and improves hepatic…
- Conditions
- Metabolic Syndrome, Familial Hypertriglyceridemia, Familial Combined Hyperlipidemia
- Trial name
- NCT00465751
- Testing
- chenodeoxycholic acid
- Where
- Switzerland
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- University Hospital, Basel, Switzerland
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
The purpose of the study is to collect preliminary data on whether the drug adalimumab (also called Humira) can decrease pain and stiffness, improve quality of life, and is safe in people with mucopolysaccharidosis type I, II, or…
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI
- Trial name
- NCT02437253
- Testing
- Adalimumab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
MPS IIIB (Sanfilippo B Syndrome)
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).
- Trial name
- NCT02090179
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Wilson's Disease
The Individual Therapy for Patients With Wilson's Disease
Based on the genotype characteristics and genotype-phenotype-treatment prognosis data of Chinese WD patients, this study intends to further optimize the treatment regimen of Chinese WD patients and formulate individualized…
- Trial name
- NCT03957720
- Testing
- DMPS, Penicillamine, DMSA
- Where
- China
- Volunteers
- 400 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Amyloid Cardiomyopathy
Swiss Cardiac Amyloidosis REgistry (Swiss-CARE)
Cardiac transthyretin amyloidosis (ATTR), caused by ventricular depositions of misfolded transthyretin, results in an infiltrative cardiomyopathy, progressing from pronounced myocardial wall thickening, diastolic and systolic…
- Trial name
- B-CARE (NCT04776824)
- Where
- 7 sites in Switzerland
- Volunteers
- 300 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Cardiac Amyloidosis, Spinal Stenosis
Prevalence of Cardiac Amyloidosis Among Patients With a History of Lumbar Spinal Stenosis.
The study investigates the prevalence of cardiac amyloidosis among patients with a history of lumbar spinal stenosis within the last ten years in the region of central Denmark.
- Trial name
- CASS-I (NCT05701410)
- Testing
- DPD scintigraphy
- Where
- Denmark
- Volunteers
- 200 people
- Sponsor
- Steen Hvitfeldt Poulsen
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
The purpose of this Phase 2, open-label, sequential dose cohort study is to evaluate the safety, efficacy, and pharmacokinetics (PK) of atumelnant (CRN04894) in participants with classic congenital adrenal hyperplasia (CAH)…
- Trial name
- NCT05907291
- Testing
- atumelnant (CRN04894)
- Where
- 27 sites in United States, Argentina and 5 more
- Volunteers
- 38 people
- Sponsor
- Crinetics Pharmaceuticals Inc.