Clinical trials: Metabolism, Inborn Errors
DNA Virus Infection, Herpesviridae Infections
Prophylaxis With Ganciclovir Improves Graft Survival in Renal Allograft Recipients
Study Phase: IV Study Type: Open-label, multicenter, randomised clinical trial with two arms stratified for an intensified immunosuppressive regimen in patients at high risk for acute rejection.
- Conditions
- DNA Virus Infection, Herpesviridae Infections, Cytomegalovirus Infection
- Trial name
- NCT00373165
- Testing
- Ganciclovir
- Volunteers
- 150 people
- Sponsor
- Lower Saxony Center for Nephrology
Gout, Hyperuricemia
Post-Authorisation Safety Study of Lesinurad
Non-interventional population-based prospective cohort study in multiple databases comparing patients with gout who initiate lesinurad in combination with an existing xanthine oxidase inhibitor (XOI) (lesinurad+XOI cohort) to a…
- Trial name
- SATURATES (NCT04072471)
- Testing
- Zurampic®, Control group: xanthine oxidase inhibitor monotherapy
- Sponsor
- AstraZeneca
Cardiac Amyloidosis
Echocardiographic Characterization of Cardiac Amyloidosis
This is a mono-center observational ambispective study in which patients with cardiac amyloidosis evaluated at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS (Rome, Italy) will be enrolled.
- Trial name
- Echo-AMY (NCT05760287)
- Where
- Italy
- Volunteers
- 255 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Type II Gaucher Disease
An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease
This exploratory trial is to prove the tolerability and safety of VGN-R08b to treat infants with type II Gaucher disease.
- Trial name
- NCT06272149
- Testing
- VGN-R08b
- Where
- China
- Volunteers
- 6 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Fructose Intolerance
Investigation of Supplemental L-alanine in the Management of Dietary Fructose Intolerance
Over the past few decades, fructose consumption has risen significantly in the United States1. This sugar is increasingly being used as a sweetener in a variety of foods1.
- Trial name
- NCT04022434
- Testing
- Placedo, Alanine
- Where
- United States
- Volunteers
- 65 people
- Sponsor
- Augusta University
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
GM2 Gangliosidosis, Niemann-Pick Type C Disease
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study…
- Trial name
- PRISMA (NCT07399704)
- Testing
- AZ-3102
- Where
- 3 sites in Brazil
- Volunteers
- 21 people
- Sponsor
- Azafaros B.V.
Beta-thalassemia, Myelodysplastic Syndromes
Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias
The purpose of this study is to determine the effects of the oral iron chelator Deferasirox on liver iron content after one year of treatment in patients with iron overload from repeated blood transfusions.
- Conditions
- Beta-thalassemia, Myelodysplastic Syndromes, Fanconi Syndrome, Anemia, Diamond-Blackfan
- Trial name
- NCT00061763
- Testing
- Deferasirox
- Where
- 6 sites in United States
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
Mucolipidosis Type IV
Mucolipidosis Type IV Natural History Study
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the…
- Trial name
- NCT05782387
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
Glycogen Storage Disease Type 2, Dystrophia Myotonica
An MRI Study on Muscular Diseases -Pompe Disease and Dystrophia Myotonica-
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
- Trial name
- NCT02708784
- Where
- 2 sites in Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Inherited Metabolic Disorders, Undiagnosed Diseases
Caregiving Networks Across Disease Context and the Life Course
Background: In the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others.
- Conditions
- Inherited Metabolic Disorders, Undiagnosed Diseases, Batten's Disease, Tay Sachs
- Trial name
- NCT05007990
- Where
- United States
- Volunteers
- 2,800 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Coronary Arteriosclerosis, Hypoalphalipoproteinemias
High-Density Lipoprotein (HDL) Treatment Study
A low level of plasma high-density lipoprotein (HDL) cholesterol, "the good cholesterol", is the most common lipid abnormality observed in patients with a premature atherosclerotic cardiovascular disease.
- Conditions
- Coronary Arteriosclerosis, Hypoalphalipoproteinemias, Genetic Diseases, Inborn
- Trial name
- NCT00458055
- Testing
- Atorvastatin; Fenofibrate; Niacin
- Where
- Canada
- Volunteers
- 19 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
- Trial name
- FLY (NCT06328608)
- Testing
- PRX-102 1 mg/kg every two weeks
- Where
- 12 sites in United States, Austria and 4 more
- Volunteers
- 22 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Gaucher Disease
Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
Primary Objective: Evaluate the efficacy and safety of eliglustat in Chinese pediatric patients (≥12 to <18 years old) with Gaucher disease type 1 and type 3.
- Trial name
- NCT06523517
- Testing
- Eliglustat Tartrate Capsules
- Where
- China
- Volunteers
- 5 people
- Sponsor
- Peking Union Medical College Hospital
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Awareness, Anesthesia, Recall Phenomenon
Awareness in Old Aged Patients During Laryngoscopy and Intubation Using Isolated Forearm Technique
Awareness during general anesthesia - that has an incidence between 0.1% and 0.9% of cases and may be more in elderly - remains a concern for anesthesiologists.
- Conditions
- Awareness, Anesthesia, Recall Phenomenon, Inhalation; Gas
- Trial name
- NCT05019560
- Testing
- Sevoflurane, TIVA
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Ain Shams University
TTR-mediated Amyloidosis, Amyloidosis, Hereditary
APOLLO: The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis
The purpose of this study is to evaluate the safety and efficacy of patisiran (ALN-TTR02) in patients with transthyretin (TTR) mediated amyloidosis.
- Conditions
- TTR-mediated Amyloidosis, Amyloidosis, Hereditary, Amyloid Neuropathies, Familial, Familial Amyloid Polyneuropathies
- Trial name
- NCT01960348
- Testing
- patisiran (ALN-TTR02), Sterile Normal Saline (0.9% NaCl)
- Where
- 52 sites in United States, Argentina and 19 more
- Volunteers
- 225 people
- Sponsor
- Alnylam Pharmaceuticals
Cardiac Amyloidosis, Transthyretin Amyloidosis
ATTRACT-52: Primary Care Cardiac Amyloidosis Screening in Ordu, Turkey
Cardiac amyloidosis is a progressive infiltrative cardiomyopathy, most commonly related to transthyretin (ATTR) misfolding. Although considered rare, emerging data suggest higher prevalence in specific regions, including the…
- Trial name
- ATTRACT-52 (NCT07238426)
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people
- Sponsor
- Kotyora Family Medicine Health Management and Education Association
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