Clinical trials: Metabolism, Inborn Errors
Hypophosphatasia, Bone Disease
Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09
The purpose of this study is to characterize the natural history of HPP in patients with Juvenile-onset HPP who served as historical controls in ENB-006-09.
- Trial name
- NCT02235493
- Testing
- Retrospective Case Only
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Hypnotic; Withdrawal State With Delirium, Neurological Disorder
Efficacy of BIS Monitoring in Deep Hypnotic State
Determining the efficacy of the BIS monitor in monitoring deep hypnotic states as well as intra- and post-operative outcomes in neurosurgery patients
- Conditions
- Hypnotic; Withdrawal State With Delirium, Neurological Disorder, Postoperative Delirium, Postoperative Confusion
- Trial name
- NCT06177847
- Testing
- BIS
- Volunteers
- 50 people
- Sponsor
- Universitas Indonesia
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Lipoprotein Lipase Deficiency
Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency
Lipoprotein lipase (LPL) is an enzyme that plays an important role in removing triglycerides (TG) (molecules that transport dietary fat) from the blood.
- Trial name
- AGL12 (NCT04227678)
- Testing
- Heparin, liquid meal
- Where
- Canada
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
Familial Hypercholesterolemia
Effect of Rapeseed Oil and Sunflower Oil
Familial hypercholesterolemia (FH), an inherited disorder of lipoprotein metabolism, is a risk for early cardiovascular disease (CVD).
- Trial name
- NCT00924274
- Testing
- rapeseed oil, sunflower oil
- Where
- Austria
- Volunteers
- 24 people
- Sponsor
- Medical University of Vienna
Hypophosphatasia
Natural History Study of Patients With Hypophosphatasia (HPP)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP)…
- Trial name
- NatHisHPP (NCT02237625)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Duke University
Niemann-Pick Disease Type C, GM2 Gangliosidosis
Long-Term Safety and Tolerability of Nizubaglustat in Participants With Rare Lysosomal Disorders
This is an open-label extension trial to evaluate the long-term safety and tolerability of nizubaglustat (AZ-3102) in participants with rare lysosomal disorders who have participated in a previous nizubaglustat trial and wish to…
- Conditions
- Niemann-Pick Disease Type C, GM2 Gangliosidosis, GM1 Gangliosidosis, Gaucher Disease Type 3
- Trial name
- HARBOR (NCT07885917)
- Testing
- AZ-3102
- Volunteers
- 218 people
- Sponsor
- Azafaros B.V.
Lactose Intolerance
A Bifido Bacteria to Improve Lactose Digestion and Tolerance
We want to determine if feeding a bifido bacteria that readily digests lactose and galactooligosacharides improves lactose digestion and tolerance through alteration of the microbiome.
- Trial name
- NCT05668468
- Testing
- Bifidobacterium adolescentis IVS-1 capsule
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Purdue University
Gout
Review of Safety Using Rilonacept in Preventing Gout Exacerbations (RE-SURGE)
The purpose of this clinical research study is to determine the safety and effectiveness of an experimental drug called rilonacept in subjects with gout who are on urate-lowering therapy.
- Trial name
- NCT00856206
- Testing
- Rilonacept
- Where
- 124 sites in United States, Germany and 4 more
- Volunteers
- 1,315 people
- Sponsor
- Regeneron Pharmaceuticals
Pompe Disease
Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes…
- Trial name
- Pompe_HrQol (NCT04724213)
- Testing
- Testing of reliability / validity of new questionnaire
- Where
- Switzerland
- Volunteers
- 101 people
- Sponsor
- University Children's Hospital, Zurich
Multiple Sclerosis, Optic Neuritis, Demyelinating Disease
Visual (Path)Ways in Multiple Sclerosis - Part II
Multiple sclerosis (MS) is an inflammatory demyelinating and degenerative disease of the central nervous system. The mechanisms of neuro-axonal loss remain incompletely elucidated.
- Trial name
- VWIMS - II (NCT06776224)
- Testing
- Measurement of retinal vascular density and visual cognition
- Where
- France
- Volunteers
- 64 people
- Sponsor
- University Hospital, Lille
Gaucher Disease, Thrombocytopathy
Thrombocytopathy in Gaucher Disease Patients
In Gaucher disease type I bleeding is a common presenting symptom, that may manifest itself as frequent nose bleeds, easy bruising but can also cause substantial bleeding after surgical or dental procedures and may occur in…
- Trial name
- NCT01344096
- Where
- 2 sites in Israel
- Volunteers
- 70 people
- Sponsor
- Rabin Medical Center
Hypercholesterolemia, Atherosclerotic Cardiovascular Disease
Evaluation of Long-Term Efficacy of Bempedoic Acid (ETC-1002) in Patients With Hyperlipidemia at High Cardiovascular Risk
The purpose of this study is to see if bemedoic acid (ETC-1002) is effective versus placebo in patients with high cardiovascular risk and elevated LDL cholesterol not adequately controlled by their current therapy.
- Trial name
- CLEAR Wisdom (NCT02991118)
- Testing
- bempedoic acid
- Where
- 2 sites in United States
- Volunteers
- 779 people
- Sponsor
- Esperion Therapeutics, Inc.
Cardiovascular Diseases, Heart Diseases
Genomic Dissection of a QTL Affecting the Lipid Profile
To search for the genetic cause of the metabolic syndrome, a lipid disorder that poses a major risk for coronary heart disease.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Obesity, Hyperlipidemia, Familial Combined
- Trial name
- NCT00064688
- Sponsor
- Medical College of Wisconsin
Cancers
Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal)
The purpose of this study is to safely remove ovarian tissue in pre-pubertal pediatric patients, who are at risk for infertility from their medical treatment, for freezing for future restoration of fertility and hormone function.
- Trial name
- NCT05299710
- Testing
- Laparoscopic surgery
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- Erin Rowell
X-linked Hypophosphatemia
Anti-FGF23 (Burosumab) in Adult Patients With XLH
X-linked hypophosphatemia (XLH) rare genetic disorder due by inactivating mutations in the PHEX gene leading to increased levels in FGF-23.
- Trial name
- BurGER (NCT04695860)
- Testing
- Burosumab
- Where
- Germany
- Volunteers
- 36 people
- Sponsor
- Wuerzburg University Hospital
Lactose Intolerance
Lactose Intolerance in Infants With Gastrointestinal Disturbances
This study enrolled thirty infants who presented by GIT symptoms and their CoMiSS was ≥ 12. The patients were assessed upon presentation, after 2 weeks of receiving lactose free diet regimen and 2 weeks after rechallenging them…
- Trial name
- NCT06789068
- Testing
- lactose free regimen
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Ain Shams University
Postoperative Complication, Recovery, Physiological
Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery
The recovery of transit after surgery is an important parameter in postoperative evaluation. It generally reflects simple postoperative outcomes and allows the patient to return home.
- Trial name
- FLATQUAL (NCT06675097)
- Where
- 2 sites in France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Angers
Alkaptonuria
Suitability of Nitisinone in Alkaptonuria 2
This is a proposal to develop the orphan designated drug, nitisinone, for the treatment of a rare Mendelian disease, Alkaptonuria (AKU).
- Trial name
- SONIA 2 (NCT01916382)
- Testing
- Nitisinone
- Where
- United Kingdom
- Volunteers
- 140 people
- Sponsor
- University of Liverpool
Niemann-Pick Disease, Type C
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
A pivotal, randomized, double-blind, placebo controlled, multi-center therapeutic study for patients age 4 and older with a confirmed diagnosis of Niemann Pick disease type C (NPC).
- Trial name
- NCT05163288
- Testing
- N-Acetyl-L-Leucine
- Where
- 14 sites in United States, Australia and 6 more
- Volunteers
- 53 people
- Sponsor
- IntraBio Inc
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