Clinical trials: Metabolism, Inborn Errors
MPS VI
Observational Study of Patients With Mucopolysaccharidosis (MPS) VI Who Previously Participated in ASB-00-02
There is limited information on the long-term effects of treating patients with MPS VI with Naglazyme® and limited data on the natural history of treated and untreated MPS VI patients.
- Trial name
- NCT01387854
- Where
- 7 sites in United States, Australia and 5 more
- Volunteers
- 59 people
- Sponsor
- BioMarin Pharmaceutical
Movement Disorders, Essential Tremor
ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
The proposed study is to evaluate the effectiveness of ExAblate Transcranial MRgFUS as a tool for creating a unilateral lesion in the Vim thalamus or the globus pallidus (GPi) in patients with treatment-refractory symptoms of…
- Conditions
- Movement Disorders, Essential Tremor, Holmes Tremor, Parkinson's Disease
- Trial name
- NCT02252380
- Testing
- Transcranial ExAblate System
- Where
- 2 sites in Canada
- Volunteers
- 10 people
- Sponsor
- InSightec
Gout, Chronic Kidney Diseases
Anakinra vs. Steroids for the Treatment of Gout Attacks in Patients With Renal Disease (ASGARD): A Feasibility Study
The aim of this study is to determine the feasibility of running a phase III double-blind, double-dummy randomised controlled trial comparing Depo-Medrone 120mg intramuscular injection vs.
- Trial name
- ASGARD (NCT02578394)
- Where
- United Kingdom
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Mid and South Essex NHS Foundation Trust
Osteoporosis
GRACE II (General Retrospective Analysis of Commercial Experience With AGN1 LOEP)
The study is designed as a retrospective, multicenter study for subjects previously treated with the AGN1 LOEP Kit in the proximal femur as part of standard hospital practice. This will be a non-randomized and non-blinded study.
- Trial name
- NCT07594639
- Testing
- AGN1 LOEP
- Where
- Belgium
- Volunteers
- 305 people
- Sponsor
- AgNovos Healthcare, LLC
Cardiac Amyloidosis, Aortic Stenosis
Aortic Stenosis and Cardiac Amyloidosis
The dual pathology of aortic stenosis (AS) and cardiac amyloidosis (CA) is increasingly recognized. Even tough efforts have been undertaken to bring cohorts together, the largest cohort of AS-ATTR to date is <50 patients.
- Trial name
- NCT06129331
- Testing
- Amyloid-specific treatment, No amyloid-specific treatment
- Where
- 2 sites in Austria, United Kingdom
- Volunteers
- 300 people
- Sponsor
- Medical University of Vienna
Coronary Vessels, Procedure PCI
AI Quantitative Coronary Angiography Versus Optical Coherent Tomography Guidance for Coronary Stent Implantation
This study is to establish the primary hypothesis thatAI -QCA guided PCI is non-inferior to Optical coherence tomography-guided Percutaneous coronary intervention regarding minimal Stent area by Final OCT and Procedural MACE
- Trial name
- FLASH (NCT05388357)
- Testing
- Intervention Procedure: PCI
- Where
- 13 sites in South Korea
- Volunteers
- 400 people
- Sponsor
- Asan Medical Center
Gout, Hyperuricemia
Renal PK Study of LC350189
This is a Phase 1, open-label, parallel-group, multiple-dose study designed to assess the effect of renal impairment on the PK and PD of LC350189.
- Trial name
- NCT04066712
- Testing
- LC350189 200 mg
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- LG Chem
Cardiac Amyloidosis, Pacemaker
Increased Pacemaker Lower Rate in ATTR Cardiac Amyloidosis
In cardiac amyloidosis, the heart muscle becomes thick and stiff, making it difficult to pump enough blood with each beat. The heart also often cannot increase its stroke volume, making patients with cardiac amyloidosis more…
- Trial name
- PACE-ATTR (NCT07413081)
- Testing
- Increasing the pacemaker lower rate, Standard setting
- Where
- 9 sites in Denmark, Sweden
- Volunteers
- 34 people
- Sponsor
- Region Skane
Congenital Adrenal Hyperplasia
Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia
This is a Phase 1, multicenter, open-label, single-dose study to evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of NBI-77860 in subjects with congenital adrenal hyperplasia (CAH).
- Trial name
- NCT02349503
- Testing
- NBI-77860
- Where
- 2 sites in United States
- Sponsor
- Neurocrine Biosciences
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Acute Gout
Apremilast Therapy for Acute Gouty Arthritis
The purpose of the study is to learn about a possible new medicine, apremilast, for treating acute gout and compare how it works to indomethacin, a medication that has been used to treat gout for over 50 years.
- Trial name
- NCT00997581
- Testing
- apremilast, indomethacin SR
- Where
- United States
- Sponsor
- Dartmouth-Hitchcock Medical Center
Pompe Disease
The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease
The purpose of the study is to determine if respiratory muscle strength training will be beneficial for inspiratory and expiratory muscle strength in adults and children with Pompe disease.
- Trial name
- NCT01701154
- Testing
- respiratory muscle strength training
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Duke University
Glycogen Storage Disease Type II
Respiratory Muscle Training in L-Onset Pompe Disease (LOPD)
This study is being done to test the effects of respiratory muscle training (RMT) in patients with late-onset Pompe Disease (LOPD) who have weakness of their breathing muscles.
- Trial name
- NCT02801539
- Testing
- RMT therapy using modified RMT device
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Phenylketonurias
Evaluation of Low Phenylalanine Formulas
Ajinomoto Cambrooke has developed a PKU protein substitute that is a proprietary blend of purified Glycomacropeptide (GMP) and essential amino acids, under the brand name Glytactin®.
- Trial name
- NCT06332105
- Testing
- Glytactin, L-AA
- Where
- 2 sites in United Kingdom
- Volunteers
- 19 people
- Sponsor
- Ajinomoto Co., Inc.
Familial Hypercholesterolemia - Heterozygous
Study to Evaluate Efficacy and Safety of Inclisiran in Children With Heterozygous Familial Hypercholesterolemia
This is a pivotal phase III study designed to evaluate safety, tolerability, and efficacy of inclisiran in children (aged 6 to <12 years) with heterozygous familial hypercholesterolemia (HeFH) and elevated low density lipoprotein…
- Trial name
- ORION-20 (NCT06597019)
- Testing
- Inclisiran
- Where
- 66 sites in United States, Argentina and 21 more
- Volunteers
- 60 people
- Sponsor
- Novartis Pharmaceuticals
Primary Hyperoxaluria
Phenotyping of Primary Hyperoxaluria
985 / 5000 Résultats de traduction Primary hyperoxaluria is a rare autosomal recessive disease with an estimated prevalence of around 1 to 3 cases per million population.
- Trial name
- PHENO-HOPLA (NCT05107830)
- Where
- France
- Volunteers
- 186 people
- Sponsor
- University Hospital, Strasbourg, France
Familial Amyloid Polyneuropathy, ATTR-PN
An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy
This study is designed to determine the long-term safety and tolerability of Fx-1006A as well as the effects of Fx-1006A on clinical outcomes in patients with ATTR-PN.
- Trial name
- NCT00791492
- Testing
- Fx-1006A
- Where
- 11 sites in Argentina, Brazil and 4 more
- Volunteers
- 86 people
- Sponsor
- Pfizer
Phenylketonuria
The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot Study
Newborn screening and early treatment prevent the most severe manifestations of phenylketonuria (PKU). However, executive functioning deficits, attention deficit disorder, slow processing speed, and visual-motor problems commonly…
- Trial name
- NCT01917344
- Testing
- MRI
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Boston Children's Hospital
Phenylketonuria, Inborn Errors of Metabolism
Evaluation of PKU Explore
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Explore, a renovated Phe free protein substitute for the dietary management of PKU in children from 6 months to 5 years.
- Trial name
- PKU Explore (NCT03168399)
- Testing
- PKU Explore
- Where
- 3 sites in United Kingdom
- Volunteers
- 22 people
- Sponsor
- Vitaflo International, Ltd
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.