Clinical trials: Metabolism, Inborn Errors
Mucopolysaccharidosis
The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
Mucopolysaccharidosis (MPS) causes chronic, progressive systemic disorders due to enzyme deficiency. Musculoskeletal manifestations of MPS include bone and vertebral deformities, restricted joint function and ROM (range of…
- Trial name
- NCT05006222
- Testing
- Enzyme Replacement Agent
- Where
- Turkey (Türkiye)
- Volunteers
- 12 people
- Sponsor
- Hasan Kalyoncu University
X-linked Adrenoleukodystrophy
Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy
X-linked adrenoleukodystrophy (ALD) is a genetic disorder affecting the brain and adrenal glands. Approximately one third of boys who are at risk will develop cerebral disease.
- Trial name
- NCT02233257
- Testing
- Lorenzo's Oil
- Where
- United States
- Sponsor
- University of Minnesota
Tay-Sachs Disease, Sandhoff Disease
A Multinational, Randomized, Double-blind, Placebo-controlled Study to Assess the Efficacy, Pharmacodynamics, Pharmacokinetics, and Safety of Venglustat in Late-onset GM2
Primary Objectives: Primary population (adult participants with late-onset GM2 gangliosidosis): To assess the efficacy and pharmacodynamics (PD) of daily oral dosing of venglustat when administered over a 104-week period…
- Trial name
- AMETHIST (NCT04221451)
- Testing
- venglustat GZ402671
- Where
- 23 sites in United States, Argentina and 11 more
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Genzyme, a Sanofi Company
Anemia (Iron-Loading), Beta-Thalassemia
Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis
To determine whether deferoxamine prevented the complications of transfusional iron overload.
- Conditions
- Anemia (Iron-Loading), Beta-Thalassemia, Hematologic Diseases, Hemoglobinopathies
- Trial name
- NCT00000595
- Testing
- deferoxamine
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Severe Dystonia, Wilson's Disease
WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
Dystonia in Wilson's disease represent a major issue. The persistence of disabling motor symptoms despite medical treatments justifies conducting a study on deep brain stimulation (DBS) in Wilson's disease (WD).
- Trial name
- WILSTIM DBS (NCT02552628)
- Testing
- Medtronic, Activa® PC "on", Medtronic, Activa® PC "off"
- Where
- 3 sites in France
- Volunteers
- 5 people
- Sponsor
- Hospices Civils de Lyon
Cardiac Amyloidosis, Amyloidosis in Transthyretin (TTR)
Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy
Cardiac amyloidosis are related to the accumulation of fibrillar proteins in the extracellular leading to disruption of the cardiac tissue architecture.
- Conditions
- Cardiac Amyloidosis, Amyloidosis in Transthyretin (TTR), Hypertrophic Cardiomyopathy (HCM)
- Trial name
- Amylo (NCT01623245)
- Where
- France
- Volunteers
- 294 people
- Sponsor
- Thibaud Damy
Hutchinson-Gilford Progeria Syndrome
A Study Observing Disease Progression in a Patient With Hutchinson-Gilford Progeria Syndrome (HGPS)
This study is a prospective, non-interventional, single-patient observational study following one patient with Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that causes rapid, premature aging, over a 3-year period…
- Trial name
- progeria (NCT07839351)
- Where
- South Korea
- Volunteers
- 1 people
- Sponsor
- Bundang CHA Hospital
To Determine Bioequivalence Under Fed Conditions
Bioavailability Study of Tramadol/APAP Tablets Under Fed Conditions
To compare the relative bioavailability of Kali and Ortho-McNeil's products
- Trial name
- NCT00652821
- Testing
- Tramadol/ APAP, Ultracet
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Par Pharmaceutical, Inc.
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome
Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Background: Neurocognitive disorders affect how the brain uses oxygen. They may affect mental development in children. These disorders can be studied with imaging scans that use radiation; however, these methods are not ideal for…
- Conditions
- Juvenile Neuronal Ceroid Lipofuscinosis, Smith-Lemli-Opitz Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type C1
- Trial name
- NCT05642221
- Where
- United States
- Volunteers
- 73 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hepato-splenomegaly, Dysostosis Multiplex
Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
- Conditions
- Hepato-splenomegaly, Dysostosis Multiplex, Seizures, Mental Retardation
- Trial name
- BioGM1/BioGM2 (NCT02298647)
- Where
- 5 sites in Egypt, Germany and 2 more
- Sponsor
- CENTOGENE GmbH Rostock
Lactose Intolerance
Lactobreath: A Study to Diagnose Lactose Intolerance Using Breath Markers
Food intolerances affect many people and can cause discomfort and dietary challenges. One common cause is difficulty digesting certain carbohydrates called FODMAPs.
- Trial name
- Lactobreath (NCT06177938)
- Testing
- Lactose solution/Glucose solution
- Where
- Switzerland
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- ETH Zurich
Sanfilippo Syndrome, Mucopolysaccharidosis (MPS)
An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
This extension study will allow participants to continue receiving treatment with HGT-1410 and to initiate treatment in patients who received no-treatment in Study HGT-SAN-093, and will evaluate the long-term safety and efficacy…
- Trial name
- NCT02350816
- Testing
- HGT-1410
- Where
- 8 sites in United States, France and 5 more
- Volunteers
- 17 people
- Sponsor
- Shire
Cerebral Amyloid Angiopathy, CAA - Cerebral Amyloid Angiopathy
Enpowering Progression Risk of Cerebral Amyloid Angiopathy
Cerebral amyloid angiopathy (CAA) is a microangiopathy characterized by the progressive deposition of β-amyloid in cerebral vessel walls, contributing to intracerebral hemorrhages, cognitive decline, and other clinical…
- Trial name
- PRIORITY (NCT06960538)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Phenylketonuria, Mild Hyperphenylalaninemia
Neurocognitive Outcomes in Mild Hyperphenylalaninemia (MHP)MHP Study
Phenylketonuria (PKU) is a genetic disorder known to cause severe reduction in intelligence and deficits in cognitive function; it is associated with an elevated level of Phenylalanine (Phe) in blood.
- Trial name
- NCT01924026
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- The Hospital for Sick Children
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
Rheumatoid Arthritis, Osteoarthritis
Rheumatology Informatics System for Effectiveness
The RISE Registry is an enhanced version of the ACR's Rheumatology Clinical Registry (RCR) and allows for a simplified entry process, while establishing a best-in-class resource to manage your patient population and improve…
- Conditions
- Rheumatoid Arthritis, Osteoarthritis, Gout
- Trial name
- RISE (NCT02230943)
- Where
- United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- American College of Rheumatology
Fabry Disease
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.
- Trial name
- NCT06270316
- Testing
- AMT-191
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- UniQure Biopharma B.V.
Genetic Hemochromatosis
Respiratory Variations For Assessing Blood Withdrawal
OBJECTIVES: To investigate whether respiratory variations of the inferior vena cava (ΔIVC) and internal jugular vein (ΔIJV) diameters during standardized breathing (ΔIVCST and ΔIJVST) increase after a therapeutic bleeding in…
- Trial name
- ReVAs (NCT03066414)
- Testing
- echography
- Where
- France
- Volunteers
- 27 people
- Sponsor
- University Hospital, Lille
Gaucher Disease Type 1
A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease
Gaucher disease (GD) is caused by mutations in the GBA1 gene, which leads to a lack or reduction of GCase activity. The consequences of this deficiency are generally attributed to the accumulation of the GCase substrate…
- Trial name
- GD (NCT06818838)
- Testing
- LY-M001
- Where
- 3 sites in China
- Volunteers
- 12 people
- Sponsor
- Lingyi Biotech Co., Ltd.
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