Clinical trials: Metabolism, Inborn Errors
Transthyretin Amyloidosis, ATTR-CM
Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
The MaesTTRo study aims to enroll a global cohort of patients with transthyretin (ATTR) amyloidosis to longitudinally observe the natural course of the disease and describe real-world treatment patterns and outcomes.
- Conditions
- Transthyretin Amyloidosis, ATTR-CM, ATTRv-PN, ATTR
- Trial name
- MaesTTRo (NCT06465810)
- Testing
- Treatment of transthyretin (ATTR) amyloidosis in observational study setting
- Where
- 89 sites in United States, Canada and 4 more
- Volunteers
- 1,850 people
- Sponsor
- AstraZeneca
Healthy
Comparative Study to Evaluate KADIAN and Avinza in Healthy Adults
The primary objective of this study was to compare the single-dose relative bioavailability of Alpharma Branded Products Division (Kadian®) and Ligand® Pharmaceuticals Inc.
- Trial name
- NCT00782548
- Testing
- KADIAN (morphine sulfate sustained-release) capsules, Avinza (morphine sulfate sustained-release) capsules
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Actavis Inc.
Hypoalphalipoproteinemia
Short-term Effect of Extended-release Niacin on Endothelial Function.
Individuals with reduced plasma concentration of high-density lipoprotein (HDL) cholesterol are more susceptible to oxidative stress and often present reduced endothelial function, which has been mainly related to this…
- Trial name
- NCT01942291
- Testing
- Niacin
- Where
- Brazil
- Volunteers
- 18 people
- Sponsor
- University of Campinas, Brazil
Adrenoleukodystrophy
Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
OBJECTIVES: I. Evaluate the clinical efficacy of combination glyceryl trierucate and glyceryl trioleate (Lorenzo's Oil) therapy in boys with X-linked adrenoleukodystrophy. II.
- Trial name
- NCT00004418
- Testing
- glyceryl trierucate/glyceryl trioleate
- Where
- 2 sites in United States
- Volunteers
- 126 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Gouty Arthritis (GA)
A Bioequivalence Study of Two Different Dosage Form of Genakumab
The purpose of this study is to investigate whether Genakumab Injection is bioequivalent to Genakumab for Injection.
- Trial name
- NCT06451848
- Testing
- Genakumab Injection (T, Solution for injection), Genakumab for Injection (R, Powder for solution for injection)
- Where
- China
- Volunteers
- 178 people, healthy volunteers welcome
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Homozygous Familial Hypercholesterolemia (HoFH)
A Study to Evaluate the Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia
The purpose of the study is to evaluate the safety of Rosuvastatin in Children and Adolescents with Homozygous Familial Hypercholesterolemia.
- Trial name
- NCT02434497
- Testing
- Rosuvastatin 20mg
- Where
- 6 sites in Belgium, Canada and 4 more
- Volunteers
- 9 people
- Sponsor
- AstraZeneca
Danon Disease
Natural History of Danon Disease
This is a multicenter, international, non-interventional, natural history study designed to collect longitudinal retrospective clinical information on patients with Danon disease (DD).
- Trial name
- NCT05548855
- Testing
- Heart Transplant, Cardiac Assistive Device
- Where
- 15 sites in Czechia, France and 3 more
- Volunteers
- 59 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Cystinosis, Native Kidney
Cystinosis and Mitochondrial Metabolism
Cystinosis is a monogenic autosomal recessive lysosomal storage disease with complete penetrance, caused by a biallelic mutation in the CTNS gene (17p13.2) encoding cystinosin, a ubiquitous membrane protein whose role is to clear…
- Trial name
- CYSTI-MITO (NCT07319091)
- Testing
- Mitochondrial metabolism
- Where
- 9 sites in France
- Volunteers
- 25 people
- Sponsor
- Hospices Civils de Lyon
Phenylketonuria
Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
For individuals with Phenylketonuria (PKU), the investigators hypothesize that glycomacropeptide will provide an acceptable form of low-phenylalanine dietary protein that will improve dietary compliance, blood phenylalanine…
- Trial name
- PKU (NCT01428258)
- Testing
- GMP Diet/GMP Medical Foods, AA Diet/AA Medical Foods
- Where
- 2 sites in United States
- Volunteers
- 32 people
- Sponsor
- University of Wisconsin, Madison
Inherited Mitochondrial Disease
A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical…
- Trial name
- NCT05218655
- Testing
- Vatiquinone
- Where
- 26 sites in United States, France and 5 more
- Volunteers
- 101 people
- Sponsor
- PTC Therapeutics
Phenylketonuria, Behavior and Behavior Mechanisms
Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders
This observational study seeks to establish evidence: 1. that physiologic changes, unrelated to effect on the Phenylalanine Hydroxylase (PAH) enzyme, occur in Phenylketonuria (PKU) patients who are treated with sapropterin…
- Conditions
- Phenylketonuria, Behavior and Behavior Mechanisms, PAH Gene Expression
- Trial name
- IST (NCT01274026)
- Testing
- sapropterin dihydrochloride
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Tulane University School of Medicine
Gaucher's Disease
A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers
The primary objective of the study is to evaluate dose proportionality and pharmacokinetics for three different dose levels of eliglustat after single and repeated administration.
- Trial name
- NCT06188325
- Testing
- Eliglustat
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Sanofi
Diamond Blackfan Anemia, Dyskeratosis Congenita
Cancer in Inherited Bone Marrow Failure Syndromes
Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these disorders.
- Conditions
- Diamond Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman Diamond Syndrome
- Trial name
- NCT00027274
- Where
- 2 sites in United States
- Volunteers
- 4,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Multiple Acyl-CoA Dehydrogenase Deficiency
Natural History of MADD
The objective of this study is to conduct a longitudinal, observational investigation to determine the natural history of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD), delineate the spectrum of its clinical features and…
- Trial name
- NCT07734090
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Gaucher Disease, Type 1
Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy
Ambroxol hydrochloride, an over-the-counter antitussive available in many markets , was identified as an interesting pharmacological chaperone.
- Trial name
- NCT03950050
- Testing
- Ambroxol
- Where
- Israel
- Volunteers
- 40 people
- Sponsor
- Shaare Zedek Medical Center
Mild Cognitive Impairment, Dementia
COMPARATIVE EFFECTIVENESS OF MCI and DEMENTIA TREATMENTS IN A COMMUNITY-BASED DEMENTIA PRACTICE
This retrospective study is a more extensive, confirmatory analysis of the cognitive and functional outcomes initially seen in 2 groups of MCI/dementia patients in Springfield, MA and compares specialized dementia care and a…
- Conditions
- Mild Cognitive Impairment, Dementia, Hypoxia, Hyperhomocysteinemia
- Trial name
- NCT02860338
- Volunteers
- 900 people
- Sponsor
- Clionsky Neuro Systems Inc.
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Phenylketonuria
GMP Drink for PKU Study
This study will evaluate the safety, gastrointestinal (GI) tolerance, acceptability and compliance of a Glycomacropeptide-based protein substitute for patients with Phenylketonuria (PKU).
- Trial name
- NCT02915510
- Testing
- Glycomacropeptide-based protein substitute
- Where
- 5 sites in United Kingdom
- Volunteers
- 40 people
- Sponsor
- Nutricia UK Ltd
Cytomegalovirus Retinitis, HIV Infections
A Randomized, Controlled Study of Intravenous Ganciclovir Therapy for Peripheral Cytomegalovirus Retinitis in Patients With AIDS
To provide information about the usefulness and safety of giving injections of ganciclovir (DHPG) for treating peripheral cytomegalovirus (CMV) retinitis.
- Trial name
- NCT00000688
- Testing
- Ganciclovir
- Where
- 22 sites in United States
- Volunteers
- 180 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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
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