Clinical trials: Inherited Metabolic Disorders
Lynch Syndrome
NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome
This study compares two colonoscopy techniques (with Narrow Band Imaging versus with indigo carmine chromoendoscopy) in patients having Lynch Syndrome
- Trial name
- LYNCH-CHROMO (NCT02570516)
- Testing
- Colonoscopy
- Where
- 7 sites in France
- Volunteers
- 141 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Tyrosinemia I
Study of NTBC for Tyrosinemia I
OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I. II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver…
- Trial name
- NCT00004443
- Testing
- NTBC
- Where
- 3 sites in United States, Canada
- Volunteers
- 20 people
- Sponsor
- University of Washington
Lynch Syndrome
Evaluation of ArTificial Intelligence System (Gi-Genius) for adenoMa dEtection in Lynch Syndrome.
The purpose of this study is to assess if artificial intelligence aid colonoscopy colonoscopy is superior to conventional colonoscopy for the detection of adenomas during surveillance colonoscopy in patients with Lynch syndrome.
- Trial name
- Timely (NCT04909671)
- Testing
- Gi Genius, Medtronic, White light standart colonoscopy
- Where
- 2 sites in Spain
- Volunteers
- 404 people
- Sponsor
- Hospital Clinic of Barcelona
Amyloidosis
Identification of Clinically Significant Markers of ATTRv in Pre-symptomatic Mutation Carriers.
The objective of this prospective observational study is to periodically monitor pre-symptomatic subjects carrying a mutation of Transthyretin (TTR), identified in the context of a family screening of affected proband, through…
- Trial name
- NCT05754099
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Glycogen Storage Disease Type II
Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
Primary Objective: To evaluate effect of 52-week treatment with Alglucosidase Alfa in the extension of survival and improvement of cardiomyopathy measured by Left Ventricular Mass Index in Chinese patients with infantile-onset…
- Trial name
- APOLLO-IOPD (NCT03687333)
- Testing
- ALGLUCOSIDASE ALFA (MYOZYME)
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Genzyme, a Sanofi Company
Cardiac Amyloidosis
Mitochondrial Function in Transthyretin Amyloidosis
Hereditary (familial) amyloidosis arising from the misfolding of a mutated or variant transthyretin, is the most frequent form of amyloid cardiomyopathy in the Caribbean basin.
- Trial name
- MIT-Amylose (NCT03328338)
- Where
- Martinique
- Volunteers
- 12 people
- Sponsor
- University Hospital Center of Martinique
Metabolic Disorder, Arginine; Hyperaminoaciduria
Evaluation of Arginine in Periodontal and Cardiovascular Disease
Asymmetric dimethylarginine (ADMA) plays a key role in endothelial function and may be a link for the known interaction of periodontitis and coronary heart disease (CHD).
- Trial name
- NCT03873948
- Testing
- Evaluation of arginine serum level
- Where
- Italy
- Volunteers
- 141 people, healthy volunteers welcome
- Sponsor
- University of Messina
Mucopolysaccharidosis II
Long-term Follow-Up for RGX-121
RGX-121-5101 is an observational long-term follow-up study to the RGX-121-101 or RGX-121-1102 studies where participants received RGX-121, a gene therapy intended to deliver a functional copy of the iduronate-2-sulfatase gene…
- Trial name
- NCT04597385
- Testing
- Long-term Follow-Up
- Where
- 4 sites in United States, Brazil
- Volunteers
- 27 people
- Sponsor
- REGENXBIO Inc.
Leber Hereditary Optic Neuropathy (LHON)
Leber Hereditary Optic Neuropathy (LHON) Historical Case Record Survey
The objective of this survey is to establish the clinical course of vision loss and recovery in patients with a genetically confirmed diagnosis of Leber Hereditary Optic Neuropathy (LHON).
- Trial name
- NCT01892943
- Where
- 8 sites in Belgium, Denmark and 3 more
- Volunteers
- 306 people
- Sponsor
- Santhera Pharmaceuticals
Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1
GSD VI and GSD IX Natural History
Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
- Conditions
- Glycogen Storage Disease VI, GLYCOGEN STORAGE DISEASE IXa1, GLYCOGEN STORAGE DISEASE IXa2, Glycogen Storage Disease IXB
- Trial name
- NCT04454216
- Testing
- No intervention
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Duke University
Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors
Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance
Background: High fructose intake increases blood lactate, triglyceride and uric acid concentrations. Uric acid may contribute to insulin resistance and dyslipidemia in the general population.
- Conditions
- Hereditary Fructose Intolerance, Fructose Metabolism, Inborn Errors, Glucose Metabolism Disorders
- Trial name
- NCT02979106
- Testing
- Test meal
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- University of Lausanne
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy
HELIOS-B: A Study to Evaluate Vutrisiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy
This study will evaluate the efficacy and safety of vutrisiran 25 mg administered subcutaneously (SC) once every 3 months (q3M) compared to placebo in participants with ATTR amyloidosis with cardiomyopathy.
- Trial name
- NCT04153149
- Testing
- Vutrisiran, Sterile Normal Saline (0.9% NaCl)
- Where
- 119 sites in United States, Argentina and 30 more
- Volunteers
- 655 people
- Sponsor
- Alnylam Pharmaceuticals
Cystic Fibrosis, Anemia, Iron-Deficiency
Does a Daily Iron Tablet Improve Anemia in Cystic Fibrosis
This study questions whether low-dose ferrous sulfate taken by mouth daily for 6 weeks increases hemoglobin concentration in adult subjects with cystic fibrosis and hypoferremic anemia.
- Trial name
- NCT01755455
- Testing
- Ferrous sulfate 325mg
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Dartmouth-Hitchcock Medical Center
Fabry Disease
Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase…
- Trial name
- BRIGHT (NCT03180840)
- Testing
- Pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Protalix
Cardiovascular Risk Factor, Cholesterol; Lipidosis
Meta-analysis of the Portfolio Dietary Pattern and Cardiometabolic Risk
The European Association for the Study of Diabetes (EASD) guidelines have not made any specific recommendations regarding the Portfolio diet, a dietary pattern that includes nuts, viscous fibre, plant protein, and plant sterols.
- Trial name
- NCT03534414
- Testing
- Portfolio Dietary Pattern, NCEP Based Diet
- Where
- Canada
- Volunteers
- 1 people
- Sponsor
- University of Toronto
Gout, Coronary Atheroma
The Correlation Between Sodium Urate (MSU) Deposition and Coronary Atherosclerosis in Patients With Foot Gout
This observational study aims to evaluate the association between sodium urate deposition volume and coronary atherosclerotic plaques in patients with foot gout using dual-energy CT (DECT) and coronary CTA.
- Trial name
- NCT07784049
- Testing
- DECT;CCTA
- Where
- China
- Volunteers
- 200 people
- Sponsor
- The Affiliated Hospital of Qingdao University
Li-Fraumeni Syndrome, Hereditary Cancer Syndromes
Biomarker Monitoring in TP53 Mutation Carriers
Purpose This study is an 'N-of-one' observational study focusing on individuals with a hereditary predisposition to cancer due to a genetic mutation in the TP53 gene.
- Conditions
- Li-Fraumeni Syndrome, Hereditary Cancer Syndromes, TP53 Gene Germline Mutation Carrier
- Trial name
- NCT02289326
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Scripps Health
Elective Colonoscopy
Efficacy and Safety of mAnnitol in Bowel Preparation During Elective Colonoscopy and Comparison With Moviprep®
The purpose of this dose finding/comparative efficacy study is to first single out the most appropriate dose of mannitol for bowel preparation (phase II) and, subsequently, demonstrate the non-inferiority of the efficacy of…
- Trial name
- SATISFACTION (NCT04759885)
- Testing
- Phase II: NTC015 low dose, Phase II: NTC015 medium dose, Phase II: NTC015 high dose
- Where
- 35 sites in France, Germany and 2 more
- Volunteers
- 886 people
- Sponsor
- NTC srl
Gestational Diabetes, Diabetes
The DNA Methylation of ARHGEF11 in Macrosomia
Background Macrosomia at birth is associated with subsequent susceptibility to obesity, abnormal glucose metabolism, hypertension and dyslipidaemia.
- Conditions
- Gestational Diabetes, Diabetes, Macrosomia, Fetal
- Trial name
- NCT03165643
- Testing
- OGTT
- Volunteers
- 239 people
- Sponsor
- Peking University First Hospital
Diabetes, Chronic Kidney Diseases
Benchtop NMR Spectroscopy for Assessment of Clinical Human Pathologies (BRANCH-P STUDY)
This research programme seeks to combine the resources of NHS primary care, with the leading spectroscopic work in low-magnetic fields of the Wilson Group (Nottingham Trent University) to demonstrate the potential for benchtop…
- Conditions
- Diabetes, Chronic Kidney Diseases, Cancer, Bowel Disease
- Trial name
- BRANCH-P (NCT05473325)
- Where
- United Kingdom
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Willows Health