Clinical trials: Metabolism, Inborn Errors
Cystinosis
Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
The purpose of this study is to gather information about the effectiveness (how well it works to treat cystinosis) and safety of a new form of cysteamine bitartrate called RP103, compared to the already-approved drug cystinosis…
- Trial name
- NCT01733316
- Testing
- RP103, Cystagon®
- Where
- 14 sites in United States, Belgium and 4 more
- Volunteers
- 41 people
- Sponsor
- Amgen
Familial Hypercholesterolemia
Effect of Omega-3 Fatty Acid on Endothelial Function
Background Familial hypercholesterolemia (FH) is an inherited disease in which the level of bad cholesterol (LDL-cholesterol) is increased, leading to an increase in coronary heart disease even if adequately treated with…
- Trial name
- NCT01813006
- Testing
- Omega-3
- Where
- Norway
- Volunteers
- 34 people
- Sponsor
- Nordlandssykehuset HF
Fabry Disease
Screening of Fabry Disease in Patients With GI Symptoms
Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular…
- Trial name
- GiFD (NCT04184986)
- Testing
- dry blood test
- Where
- Czechia
- Volunteers
- 200 people
- Sponsor
- General University Hospital, Prague
Intra-abdominal Fat, Metabolic Syndrome
Habitual Diet and Avocado Trial
The Habitual Diet and Avocado Trial will evaluate the effects of providing one avocado per day for recommended consumption over a 6 month period in a cohort of approximately 1000 free-living participants with increased waist…
- Conditions
- Intra-abdominal Fat, Metabolic Syndrome, High Cholesterol, Triglycerides High
- Trial name
- HAT (NCT03528031)
- Testing
- Intervention Daily Avocado
- Where
- 4 sites in United States
- Volunteers
- 1,008 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
CPPD - Calcium Pyrophosphate Deposition Disease, Gout
The Orienting Study
This study at IRCCS Galeazzi - Sant'Ambrogio Hospital involves patients with gout, CPPD, and osteoarthritis as a control group. Patients will receive routine care with regular clinical, laboratory, and imaging assessments every…
- Trial name
- ORIENTING (NCT07504146)
- Where
- Italy
- Volunteers
- 450 people
- Sponsor
- I.R.C.C.S Ospedale Galeazzi-Sant'Ambrogio
Hypertriglyceridemia, Familial
Safety Evaluation of Gene Therapy Drug in the Treatment of Primary Hypertriglyceridemic Patients With Recurrent Pancreatitis
The study will evaluate safety and tolerance of intravenous delivery of GC304 gene therapy drug as a treatment of primary hypertriglyceridemic patients with previous onset of acute pancreatitis.
- Trial name
- NCT05860569
- Testing
- GC304
- Where
- China
- Volunteers
- 7 people
- Sponsor
- GeneCradle Inc
Mucopolysaccharidoses
Longitudinal Study of Bone Disease in Children with Mucopolysaccharidoses (MPS) I, II, and VI
Approximately 85% of individuals with Mucopolysaccharidosis (MPS) type I, II, or VI report weekly pain and 50-60% have significant limitations in their activities of daily living due to MPS related musculoskeletal disease despite…
- Trial name
- NCT01521429
- Where
- 3 sites in United States
- Volunteers
- 55 people
- Sponsor
- Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Fabry Disease
Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease
The purpose of this study is to compare the safety and effectiveness of various doses of Replagal in patients with cardiomyopathy due to Fabry disease.
- Trial name
- NCT00864851
- Testing
- Replagal
- Where
- 12 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Shire
Cardiac Amyloidosis
Fast Cardiac Bone SPECT-CZT in Transthyretin Cardiac Amyloidosis
Transthyretin cardiac amyloidosis (ATTR-CA) is traditionally diagnosed using planar bone scintigraphy with a Perugini visual score ≥ 2.
- Trial name
- PeakAmyL (NCT07605741)
- Testing
- bone scintigraphy
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Central Hospital, Nancy, France
Gaucher Disease
Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease
The purpose of this study is to learn more about Gaucher disease. The information we collect from medical histories and a blood sample from people with Gaucher disease may help us pinpoint certain things that are different…
- Trial name
- NCT00351156
- Testing
- Blood sample
- Where
- 7 sites in United States
- Volunteers
- 50 people
- Sponsor
- Amicus Therapeutics
Heart Failure NYHA Class II, Heart Failure NYHA Class III
CMR T1 Mapping for Diagnosis of Cardiac Amyloidosis
The study aims to test the diagnostic accuracy of T1 mapping for the diagnosis of cardiac amyloidosis prospectively. The hypothesis is that T1 mapping in older patients with symptomatic heart failure, increased LV wall thickness…
- Conditions
- Heart Failure NYHA Class II, Heart Failure NYHA Class III, Heart Failure NYHA Class IV, Heart Failure With Preserved Ejection Fraction
- Trial name
- CMR for CA (NCT04862273)
- Testing
- Native T1 CMR, Web-based ATTR probability estimator (Pfizer, New York), 99mTc-DPD scintigraphy
- Where
- Germany
- Volunteers
- 112 people
- Sponsor
- University of Leipzig
Aortic Valve Stenosis, Cardiac Amyloidosis
Targeted Testing for ATTR Among Aortic Stenosis Patients-Pilot
Our ultimate goal is to design a multi-center randomized trial to test the hypothesis that targeted testing for transthyretin cardiac amyloid (ATTR) will improve survival and health status among aortic stenosis patients who…
- Trial name
- NCT04363294
- Testing
- PYP scan
- Sponsor
- University of Texas Southwestern Medical Center
Congenital Adrenal Hyperplasia (CAH)
Fertility And Sexual Function In CAH: CALLIOPE
This is a multicenter study designed to assess the effects of groundbreaking CAH therapies on a spectrum of clinical and biochemical outcomes, with a special emphasis on reproductive and sexual health.
- Trial name
- CALLIOPE (NCT07099456)
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- University of Roma La Sapienza
Blood Pressure, Gout
The Blood Pressure Effects of Febuxostat in Patients Previously Treated With Allopurinol: A Pilot Study
Hyperuricemia (high uric acid level) has been correlated to hypertension (high blood pressure) and overall cardiovascular disease risk in several studies.
- Trial name
- NCT01701622
- Testing
- febuxostat
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Mississippi Medical Center
Leukemia, Inborn Errors of Metabolism
Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC
The goal of this protocol is to expand access for patients who lack a fully HLA (Human leukocyte antigen) matched sibling donor and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT).
- Conditions
- Leukemia, Inborn Errors of Metabolism, Bone Marrow Failure Syndromes, Immunodeficiencies
- Trial name
- ExpMACs (NCT02356653)
- Testing
- Transplant of stem cells with CD3+/CD19+ depletion (CliniMACs)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Children's Hospital of Philadelphia
MPS I, MPS IV
Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis
Hardly any imaging studies specifically addressing the articular and periarticular structures in MPS patients are available at this point.
- Trial name
- NCT02067650
- Where
- Canada
- Volunteers
- 18 people
- Sponsor
- Children's Hospital of Eastern Ontario
Hypercholesterolemia, Familial
Study of ISIS 301012 (Mipomersen) in Heterozygous 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 (mipomersen) as add-on therapy in subjects with Heterozygous Familial Hypercholesterolemia
- Trial name
- NCT00281008
- Where
- 8 sites in United States, Netherlands
- Volunteers
- 44 people
- Sponsor
- Kastle Therapeutics, LLC
Porphyria
Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria
OBJECTIVES: I. Evaluate the efficacy and safety of heme arginate in the treatment of 20 patients with acute attacks of porphyria. II.
- Trial name
- NCT00004789
- Testing
- heme arginate, tin mesoporphyrin
- Volunteers
- 59 people
- Sponsor
- National Center for Research Resources (NCRR)
Arthritis, Gouty
Celebrex In Acute Gouty Arthritis Study
This is a multicenter, double-blind, double-dummy, randomized, active-controlled study that will include an 8-day treatment period followed by a 1-week follow-up period in patients experiencing symptoms of an acute exacerbation…
- Trial name
- NCT00549549
- Testing
- Indomethacin, Celecoxib
- Where
- 81 sites in United States, Canada and 10 more
- Volunteers
- 402 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Fabry Disease
An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration.
- Trial name
- NCT04519749
- Testing
- 4D-310
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
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