Clinical trials: Metabolism, Inborn Errors
Leukemia, Lymphoma
CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant
CD34+ stem cell selection in children, adolescents and young adults receiving partially matched family donor or matched unrelated adult donor allogeneic bone marrow or peripheral blood stem cell transplant will be safe and well…
- Conditions
- Leukemia, Lymphoma, Bone Marrow Failure, Immunodeficiencies
- Trial name
- NCT01049854
- Testing
- Full Intensity with TBI, Full Intensity, Reduced Intensity
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- New York Medical College
Metastatic Colorectal Cancer, Metastatic Gastroesophageal Adenocarcinoma
Safety of Trifluridine/Tipiracil in Patients With Dihydropyrimidine Dehydrogenase Deficiency Diagnosed With Metastatic Colorectal or Gastroesophageal Cancer
The goal of this clinical trial is to test the safety of the trifluridine/tipiracil as replacement of fluoropyrimidines based chemotherapy as first line metastatic colorectal or gastroesophageal cancer regimens in patients with…
- Conditions
- Metastatic Colorectal Cancer, Metastatic Gastroesophageal Adenocarcinoma, DPD Deficiency
- Trial name
- TRIFLUOX-DP (NCT06245356)
- Testing
- Lonsurf, Oxaliplatin, Panitumumab
- Where
- 21 sites in France
- Volunteers
- 73 people
- Sponsor
- UNICANCER
Amyloid Cardiomyopathy, Transthyretin Amyloid Cardiomyopathy
Artificial Intelligence to Assist the Echocardiographic Identification of Transthyretin Cardiac Amyloidosis
The goal of this study is to develop an algorithm using artificial intelligence (AI) to assist identification of potential ATTR-CM cases using routine transthoracic echocardiography.
- Conditions
- Amyloid Cardiomyopathy, Transthyretin Amyloid Cardiomyopathy, Transthyretin Cardiac Amyloidosis
- Trial name
- AI-ATTR-ECHO (NCT06328075)
- Testing
- non interventional study
- Where
- France
- Volunteers
- 15,000 people
- Sponsor
- Algalarrondo Vincent
Phenylketonuria
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
This Phase 3 study will evaluate the safety, effectiveness, tolerability, and how the body processes JNT-517 in children, adolescents, and adults with phenylketonuria.
- Trial name
- NCT06971731
- Testing
- JNT-517
- Where
- 26 sites in United States, Australia and 8 more
- Volunteers
- 120 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Phenylketonuria
Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)
SYNB1934-CP-003 was designed as a 3-part, adaptive study consisting of a dose-escalating, open-label period (DEP; Part 1) of up to 15 weeks, followed by a 4-week, double-blind, placebo-controlled, randomized withdrawal period…
- Trial name
- SYNPHENY-3 (NCT05764239)
- Testing
- SYNB1934v1
- Where
- 21 sites in United States, Canada and 2 more
- Volunteers
- 35 people
- Sponsor
- Synlogic
Arginase I Deficiency, Hyperargininemia
A Study of AEB1102 (Pegzilarginase) in Patients With Arginase 1 Deficiency
The purpose of this study is to determine the safety, tolerability, and efficacy of long-term intravenous and subcutaneous administration of pegzilarginase for the treatment of pediatric and adult patients with ARG1-D who…
- Trial name
- NCT03378531
- Testing
- AEB1102
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 14 people
- Sponsor
- Immedica Pharma AB
Systemic Amyloidosis, ATTR Amyloidosis
Hungarian National Systemic Amyloidosis Registry
This registry is an observational, multicenter, retrospective and prospective, non-pharmacological study designed to collect and analyze data from patients with systemic amyloidosis treated in inpatient and outpatient cardiology…
- Conditions
- Systemic Amyloidosis, ATTR Amyloidosis, AL Amyloidosis, Amyloid Cardiomyopathy
- Trial name
- AMYREG (NCT07689331)
- Where
- 12 sites in Hungary
- Volunteers
- 300 people
- Sponsor
- Semmelweis University
Familial Hypercholesterolemia
Brazilian Cardioprotective Diet, Phytosterols and Krill Oil in Patients With Familial Hypercholesterolemia
The main objective of this pilot study is to evaluate the effects of the Brazilian Cardioprotective Diet (DICA Br) supplemented or not with phytosterols and/or krill oil in patients with a probable or definitive diagnosis of…
- Trial name
- DICA-HF (NCT05695937)
- Testing
- phytosterol, krill oil
- Where
- 9 sites in Brazil
- Volunteers
- 58 people
- Sponsor
- Hospital do Coracao
Allogeneic Stem Cell Transplantation
Study Comparing Valganciclovir Versus Ganciclovir in Patients Following Allogeneic Stem Cell Transplantation
The objective of this study is to assess the efficacy and safety of oral valganciclovir versus intravenous ganciclovir in patients following allogenic stem cell transplantation.
- Trial name
- CONVINCE (NCT01185223)
- Testing
- Valganciclovir, Ganciclovir
- Where
- 17 sites in Austria, Germany and 1 more
- Volunteers
- 212 people
- Sponsor
- Pierrel Research Europe GmbH
Prematurity, Lactose Intolerance
Lactase Enzyme Supplementation for Growth and Feeding Tolerance in Preterm Infants
Preterm infants commonly experience feeding intolerance, which can delay advancement of enteral feeding and impair early growth.
- Conditions
- Prematurity, Lactose Intolerance, Feeding Intolerance
- Trial name
- NCT07494123
- Testing
- Lactase Enzyme Supplementation
- Where
- Egypt
- Volunteers
- 124 people
- Sponsor
- Cairo University
Pseudotumor Cerebri, Cystinosis
The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
This study will examine whether the tendency to have thrombosis, or the formation of blood clots inside blood vessels, has a role in the development of pseudotumor cerebri (PTC).
- Trial name
- NCT00071903
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Phenylketonuria
Sapropterin in Individuals With Phenylketonuria
Investigators at Washington University will examine the effects of sapropterin (Kuvan) on brain and cognition in individuals with phenylketonuria (PKU) using neuropsychological and neuroimaging procedures.
- Trial name
- NCT00730080
- Testing
- Sapropterin (Kuvan)
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Diffuse Intrinsic Pontine Glioma (DIPG), Brain Stem Glioma
Brain Stem Gliomas Treated With Adoptive Cellular Therapy During Focal Radiotherapy Recovery Alone or With Dose-intensified Temozolomide (Phase I)
The standard of care for children with DIPG includes focal radiotherapy (RT) but outcomes have remained dismal despite this treatment.
- Trial name
- BRAVO (NCT03396575)
- Testing
- TTRNA-DC vaccines with GM-CSF, TTRNA-xALT, Cyclophosphamide + Fludarabine Lymphodepletive Conditioning
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Florida
Familial Hypercholesterolemia
Familial Hypercholesterolemia Interpretive Comment - Nudging to Detection.
Familial hypercholesterolemia is the most common inherited disease of the lipid metabolism, however it remains underdiagnosed. Only 15 % of 30.000 possible patients have been found in Denmark.
- Trial name
- FIND (NCT05614219)
- Testing
- Biochemistry interpretive comment on elevated LDL-C levels
- Where
- 2 sites in Denmark
- Volunteers
- 2,000 people
- Sponsor
- Odense University Hospital
Gitelman Syndrome
A Translational Approach to Gitelman Syndrome
This study will test the response to a single dose of thiazide diuretic as a diagnostic test for Gitelman syndrome. Individuals with hypokalemic alkalosis will be enrolled.
- Trial name
- NCT00822107
- Testing
- Hydrochlorothiazide
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Oregon Health and Science University
Gout
Safety and Efficacy Study of PEG-uricase in the Treatment of Hyperuricemic Patients With Symptomatic Gout
These are two replicate studies to evaluate the safety and efficacy of PEG (polyethylene glycol)-uricase in controlling the uric acid level in symptomatic gout patients with high uric acid levels who are unable to take standard…
- Trial name
- NCT00325195
- Testing
- pegloticase
- Where
- 56 sites in United States, Canada and 1 more
- Volunteers
- 225 people
- Sponsor
- Savient Pharmaceuticals
Non-Dystrophic Myotonia
Treatment of Myotonia - Lamotrigine Versus Namuscla
In this clinical study, the aim is to investigate whether there is a difference in treatment of myotonia using two drugs. A difference there can justify the significantly higher cost when treated by Namuscla versus Lamotrigine.
- Trial name
- NCT05639257
- Testing
- Lamotrigine, Namuscla
- Where
- Denmark
- Volunteers
- 32 people
- Sponsor
- Grete Andersen, MD
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENERGYC Study
This a randomized placebo controlled, double-blind phase II study to explore the pharmacokinetics, safety and efficacy of sonlicromanol in children (from birth to 17 years) with genetically confirmed mitochondrial disease of…
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, MELAS, Subacute Necrotizing Encephalomyelopathy
- Trial name
- NCT04846036
- Testing
- Sonlicromanol
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Khondrion BV
Arginase I Deficiency, Hyperargininemia
A Study of Safety of Weekly Subcutaneous Pegzilarginase in Subjects With Arginase 1 Deficiency
This is an open-label, multicenter study to evaluate the safety of weekly SC administration of pegzilarginase over 12 months in subjects with ARG1-D.
- Trial name
- NCT05676853
- Testing
- Pegzilarginase
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- Aeglea Biotherapeutics
Organic, Including Symptomatic, Mental Disorders, Substance Use
Exploring the Comorbidity Between Mental Disorders and General Medical Conditions
Mental disorders have been shown to be associated with a number of general medical conditions (also referred to as somatic or physical conditions).
- Conditions
- Organic, Including Symptomatic, Mental Disorders, Substance Use, Schizophrenia, Mood [Affective] Disorders
- Trial name
- COMO-GMC (NCT03847753)
- Testing
- Organic Disorders, Substance Use Disorders, Schizophrenia Disorders
- Volunteers
- 5,940,299 people
- Sponsor
- University of Aarhus
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