Clinical trials: Metabolism, Inborn Errors
Familial Chylomicronemia
Study of ARO-APOC3 (Plozasiran) in Adults With Familial Chylomicronemia Syndrome (FCS)
The purpose of AROAPOC3-3001 is to evaluate the efficacy and safety of ARO-APOC3 (plozasiran) in adult participants with familial chylomicronemia syndrome (FCS).
- Trial name
- PALISADE (NCT05089084)
- Testing
- Plozasiran
- Where
- 58 sites in United States, Argentina and 19 more
- Volunteers
- 75 people
- Sponsor
- Arrowhead Pharmaceuticals
Non-alcoholic Fatty Liver Disease, Cholesterol Ester Storage Disease
Novel Association of Cholesterol Ester Storage Disease Due to Lysosomal Acid Lipase Deficiency and Non-Alcoholic Fatty Liver Disease: A Prospective Clinical Study
Non-alcoholic fatty liver disease (NAFLD) is a world-wide problem with a global prevalence estimated at 1.5 billion people. It is characterised by significant diversity and phenotypic heterogeneity.
- Trial name
- NCT01791452
- Where
- Israel
- Sponsor
- Assy Nimer
Observational Study
The Natural History of Sialidosis Type I
Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable.
- Trial name
- NCT06316752
- Testing
- Observational study
- Where
- Taiwan
- Volunteers
- 30 people
- Sponsor
- National Taiwan University Hospital
G6PD Deficiency, Carbohydrate Metabolism Disorder
Oxidative Stress, Carbohydrate Metabolism Disorders and G6PD Deficiency
The purpose of this study is to investigate the effects of alpha-lipoic acid supplementation on redox status, physiological and biochemical parameters in diabetic individuals with G6PD deficiency, after acute exercise.
- Conditions
- G6PD Deficiency, Carbohydrate Metabolism Disorder, Oxidative Stress
- Trial name
- NCT05571748
- Testing
- Alpha-lipoic acid
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Thessaly
Phenylketonuria
Immune Modulation During Palynziq® Treatment in Adults (IMPALA)
Study 165-401 is a Phase 4, open-label study designed to examine the concomitant use of methotrexate (MTX) to suppress immune responses to Palynziq and improve tolerability and efficacy in adults with PKU.
- Trial name
- NCT07477691
- Testing
- Pegvaliase, Methotrexate
- Where
- 12 sites in United States
- Volunteers
- 12 people
- Sponsor
- BioMarin Pharmaceutical
Cardiac Amyloidosis, Aortic Stenosis
The Role of Occult Cardiac Amyloid in the Elderly With Aortic Stenosis.
Aortic stenosis (AS) is the most common valvular heart disease. Once symptomatic with severe AS, outcome is poor unless the valve is replaced surgically or via transcatheter aortic valve replacement (TAVR).
- Trial name
- ATTRact-AS (NCT03029026)
- Testing
- Baseline assessment, Transthoracic echocardiography, 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy
- Where
- 2 sites in United Kingdom
- Volunteers
- 581 people
- Sponsor
- Queen Mary University of London
Cardiac Amyloidosis
Diagnosis of Cardiac Amyloidosis With 99mTc-PYP; Comparison Between Planar Imaging, SPECT/CT and Cardiac-dedicated CZT Camera
1. Patients will undergo clinical and laboratory assessment, as well as imaging tests, at the discretion of the attending cardiologist and will be referred at their discretion to perform cardiac mapping using 99mTc-PYP. 2.
- Trial name
- NCT04146415
- Testing
- Spect scan with mTc99-PYP
- Volunteers
- 30 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Neuronal Ceroid Lipofuscinosis
Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
The purpose of this Phase Ib study is to determine if "Human Central Nervous System Stem Cells"(HuCNS-SC) is safe to be transplanted in subjects with infantile and late infantile neuronal ceroid lipofuscinosis.
- Trial name
- NCT01238315
- Testing
- HuCNS-SC
- Where
- United States
- Sponsor
- StemCells, Inc.
Gaucher Disease, Type 3
MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)
Recent studies have has shown that magnetic resonance spectroscopy (MRS) can provide validated neuronal markers in patients with Type 1 GD (GD1) who are on stable therapy.
- Trial name
- NCT05586243
- Testing
- No intervention
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- University of Minnesota
Lactose Intolerant, Lactose Malabsorption
Proper Dietary Management, Follow-up, and Lactase Enzyme Supplementation for Lactose Intolerance
Lactose intolerance (LI) is considered the clinical syndrome caused by lactose malabsorption (LM). It is possible to identify four causes of lactase deficiency defining four different types of LM: primary (genetic), secondary…
- Conditions
- Lactose Intolerant, Lactose Malabsorption, Lactose Intolerance
- Trial name
- NCT06773650
- Testing
- Completion of online survey
- Where
- Italy
- Volunteers
- 385 people
- Sponsor
- European Institute of Oncology
Pompe Disease
Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease
The main purpose of this study was to determine the safety and tolerability of 3 different doses of duvoglustat (AT2220) in participants affected by Pompe disease.
- Trial name
- NCT00688597
- Testing
- Duvoglustat
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Amicus Therapeutics
Hypophosphatasia (HPP)
Registry of Patients With Hypophosphatasia
In this prospective, observational, long term registry patients of all ages with a diagnosis of hypophosphatasia (HPP) are followed at participating sites in multiple countries.
- Trial name
- NCT02306720
- Where
- 66 sites in United States, Australia and 10 more
- Volunteers
- 1,571 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
MELAS Syndrome, Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)
A Study to Assess TTI-0102 vs Placebo in MELAS Patients
This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of…
- Trial name
- NCT06644534
- Testing
- TTI-0102
- Where
- 2 sites in France, Netherlands
- Volunteers
- 9 people
- Sponsor
- Thiogenesis Therapeutics, Inc.
Late Infantile Metachromatic Leukodystrophy
Long-term Metazym Treatment of Patients With Late Infantile Metachromatic Leukodystrophy (MLD)
This is a single center, open-label study of patients with late infantile MLD. All patients were previous treated 26 weeks in the phase I trial (EudraCT number: 2006-005341-11, NCT00418561).
- Trial name
- NCT00633139
- Testing
- Recombinant human Arylsulfatase A (rhASA)
- Where
- Denmark
- Volunteers
- 13 people
- Sponsor
- Shire
Jansky-Bielschowsky Disease, Batten Disease
An Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 190 in Patients With CLN2 Disease
The Phase 1/2 study (190-201) evaluated the efficacy and safety of a 300 mg dose of BMN 190 administered every other week (qow) to patients with CLN2.
- Conditions
- Jansky-Bielschowsky Disease, Batten Disease, Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2, CLN2 Disease
- Trial name
- NCT02485899
- Testing
- BMN 190, Intracerebroventricular (ICV) access device
- Where
- 4 sites in United States, Germany and 2 more
- Volunteers
- 23 people
- Sponsor
- BioMarin Pharmaceutical
Batten Disease
An Open-label Safety, Pharmacokinetic, and Efficacy Study of Miglustat for the Treatment of Subjects With Batten Ceroid Lipofuscinosis, Neuronal 3 (CLN3) Disease
This is an open label study in approximately 6 subjects in 2 centers to assess the safety, PK, and efficacy of the maximum tolerable dose (MTD) of oral miglustat (100 mg once daily [QD] to 200 mg 3 times daily [TID]) in subjects…
- Trial name
- NCT05174039
- Testing
- Miglustat 100 milligrams (mg) Oral Capsule
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Beyond Batten Disease Foundation
Fabry Disease
Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients
The goal of this clinical trial is to test dapagliflizone in Fabry patients. The main questions it aims to answer are: Has 10 mg/d of dapagliflozin a positive effect on kidney functions of Fabry patients.
- Trial name
- NCT05710367
- Testing
- Dapagliflozin 10mg Tab
- Volunteers
- 46 people
- Sponsor
- Albina Nowak, MD
Safety and Pharmacokinetics in Healthy Volunteer Subjects
A Phase 1 Open-Label Study to Evaluate the Metabolism and Excretion of CC-223 and the Effect of Food on the Pharmacokinetics of CC-223 in Healthy Male Adult Subjects
Part 1: To characterize the biotransformation and excretion of CC-223 following a single 20-mg oral dose of CC-223 capsule containing a microtracer of [14C]-CC-223 solution in healthy male subjects; and to evaluate the…
- Trial name
- AME/FE (NCT01611467)
- Testing
- CC-223
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Celgene
Pompe Disease Infantile-Onset, Glycogen Storage Disease Type II
Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously Enrolled in Genzyme Sponsored Enzyme Replacement Therapy (ERT) Studies
This extension study was to monitor the long-term safety and efficacy of rhGAA treatment in patients with infantile-onset Pompe disease who were previously treated with rhGAA derived from the Synpac cell line
- Trial name
- NCT00763932
- Testing
- Myozyme
- Where
- 8 sites in United States, France and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Primary Hypercholesterolemia, Mixed Hyperlipemia
Study of SHR-1209 in the Treatment of Hypercholesterolemia and Hyperlipidemia Ⅲ Stage
The study is ongoing to evaluate the efficacy and safety of SHR-1209 in patients with hypercholesterolemia and hyperlipemia.
- Trial name
- NCT04849000
- Testing
- SHR-1209
- Where
- China
- Volunteers
- 709 people
- Sponsor
- Jiangsu HengRui Medicine Co., Ltd.
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