Clinical trials: Metabolism, Inborn Errors
MELAS Syndrome
Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome
The purpose of this study is to assesses the clinical efficacy of oral supplementation with glutamine over 3 years.
- Trial name
- NCT05255328
- Testing
- Glutamine oral supplement
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Hospital Universitario 12 de Octubre
Urea Cycle Disorder
Functional Evaluation in Patients With Urea Cycle Disorders (UCD) During a Driving Task
This study is being done to understand how the brain works while people with urea cycle disorder (UCD) perform driving tasks that range from easy to difficult and to look at how that compares to traditional tests of thinking and…
- Trial name
- NCT07701694
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- St. Jude Children's Research Hospital
Collagen Degeneration
Type I Collagen Fragments in the GCF and Saliva During OTM
Investigate the levels of type I Collagen fragments ICTP and CTX in GCF and saliva during initial leveling and alignment of the teeth in a sample of adolescents undergoing orthodontic treatment.
- Trial name
- NCT05020431
- Testing
- Biological measuring of collagen fragments biomarker during orthodontic tooth movement
- Where
- Egypt
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Alexandria University
Primary Hyperoxaluria
Phase 2/3 Oxabact Study
The purpose of this study is to determine if Oxalobacter formigenes is effective at lowering urinary oxalate levels in patients with primary hyperoxaluria.
- Trial name
- NCT01037231
- Testing
- Oxalobacter formigenes
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 36 people
- Sponsor
- OxThera
Hypophosphatasia
Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP)
This Clinical Trial is being conducted to study Hypophosphatasia (HPP), a bone disorder caused by gene mutations or changes. These gene mutations cause low levels of an enzyme needed to harden bone.
- Trial name
- NCT00894075
- Testing
- ENB-0040
- Sponsor
- Alexion Pharmaceuticals, Inc.
Congenital Adrenal Hyperplasia, Exercise Capacity
Exercise Capacity, Physical Fitness, and Physical Activity Levels in Children With CAH
Congenital Adrenal Hyperplesia (CAH) is a group of automosal recessive disorders that develop due to a deficiency of one of the five enyzmes necessary for cortisol synthesis in the adrenal cortex.
- Conditions
- Congenital Adrenal Hyperplasia, Exercise Capacity, Physical Activity, Quality of Life
- Trial name
- NCT06449456
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Body Mass Index Quantitative Trait Locus 5 Disorder, Tangier Disease
Effect of High Protein Diet on Adiponectin and Inflammation Among Overweight and Obese Children
The investigators aimed to determine the effects of HP diet on adiponectin and inflammatory factors among overweight and obese children.
- Trial name
- NCT01886495
- Testing
- nutrition intervention
- Where
- Iran
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Isfahan University of Medical Sciences
Smith-Lemli-Opitz Syndrome
Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
This study will evaluate the safety and effectiveness of simvastatin in treating children with Smith-Lemli-Opitz syndrome (SLOS).
- Trial name
- NCT00064792
- Testing
- Simvastatin Susp., OraPlus
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Forbes Porter, M.D.
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II
Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
The study quantitates behavioral challenges in mucopolysaccharidosis type I-III and parental coping strategies
- Conditions
- Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type III, Behavior Disorders
- Trial name
- NCT03161171
- Testing
- This is an observational study
- Where
- Germany
- Volunteers
- 34 people
- Sponsor
- University Hospital Heidelberg
MPS IIIA, Sanfilippo Syndrome
Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
Open-label, clinical trial of scAAV9.U1a.hSGSH injected intravenously through a peripheral limb vein
- Conditions
- MPS IIIA, Sanfilippo Syndrome, Sanfilippo A, Mucopolysaccharidosis III
- Trial name
- NCT04088734
- Testing
- ABO-102
- Where
- 3 sites in United States, Australia and 1 more
- Volunteers
- 5 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) of atumelnant treatment in pediatric participants with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT07159841
- Testing
- Atumelnant
- Where
- 51 sites in United States, Argentina and 11 more
- Volunteers
- 153 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
VITELLIFORM LESIONS
Radiomic Analysis in OCT Imaging of Acquired Vitelliform Lesions.
Vitelliform lesions (VLs) are subretinal accumulations of yellowish material on fundoscopy that correspond to hyperautofluorescent material on fundus autofluorescence (FAF) and hyperreflective subretinal material on structural…
- Trial name
- NCT07074041
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- Federico II University
Mucopolysaccharidosis I (MPS I)
Mucopolysaccharidosis I (MPS I) Registry
The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I.
- Trial name
- NCT00144794
- Where
- 141 sites in United States, Argentina and 35 more
- Volunteers
- 1,406 people
- Sponsor
- Genzyme, a Sanofi Company
Glycogen Storage Disease
Neurocognitive Function and Neuroimaging Features in Patients With Glycogen Storage Diseases
The goal of this observational study is to learn about cognitive function and brain imaging findings in people with glycogen storage disease (GSD).
- Trial name
- NEURO-GSD (NCT07908212)
- Where
- China
- Volunteers
- 318 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Cardiac Amyloidosis
Hybrid Florbetaben PET/MRI for Imaging of Cardiac Amyloidosis
Exploration of prognostic parameters in 18F-Florbetaben PET/MRI in patients with cardiac amyloidosis. The clinical endpoints are defined as occurence of major adverse cardiac events (MACE) in amyloidosis patients.
- Trial name
- NCT07154381
- Where
- Germany
- Volunteers
- 25 people
- Sponsor
- University Hospital, Essen
Hemochromatosis
Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy
In this project we plan to evaluate the effectiveness of erythrocytapheresis against phlebotomy, both regarding the impact on the reduction in iron overload as well as reduction in patient "burden".
- Trial name
- NCT00202436
- Testing
- Phlebotomy, Erythrocytapheresis
- Where
- Netherlands
- Volunteers
- 40 people
- Sponsor
- Sanquin Research & Blood Bank Divisions
Phenylketonurias
Early Dietary Treated Patients With Phenylketonuria Can Achieve Normal Growth and Mental Development.
The study aim is to follow up body growth(body weight by kg, length by cm, head circumference, abdominal circumference, and body mass index ) and mental development of infants on phenylalanine restricted diet in comparison with…
- Trial name
- NCT04302194
- Testing
- phenylalanine restricted diet
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Assiut University
Classic Galactosemia
AT-007 in Adult Subjects With Classic Galactosemia (CG)
This study is a 12-month open-label extension (OLE) study of AT-007 in adult subjects with CG who previously participated in Study AT-007-1001 Part D and/or Part D Extension.
- Trial name
- NCT05418829
- Testing
- AT-007
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Applied Therapeutics, Inc.
Intercritical Gout
Efficacy and Safety of Colchicine for the Prevention of Gout Flares During the Initiation of Allopurinol
The purpose of this study is to determine if once-daily treatment with colchicine, compared to placebo, is effective in preventing gout flares in patients who are initiating therapy with allopurinol.
- Trial name
- NCT01451645
- Testing
- Colchicine (Colcrys®), allopurinol
- Where
- 37 sites in United States
- Volunteers
- 82 people
- Sponsor
- Regeneron Pharmaceuticals
Gout
Pegylated Recombinant Mammalian Uricase (PEG-uricase) as Treatment for Refractory Gout
The purpose of this study is to determine whether PEG-uricase (a chemically modified recombinant mammalian enzyme that degrades uric acid) is effective in controlling hyperuricemia in patients with chronic gout, who cannot…
- Trial name
- NCT00111657
- Testing
- Pegloticase
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- John Sundy
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