Clinical trials: Metabolism, Inborn Errors
Cerebrotendinous Xanthomatoses
A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)
This study is designed to demonstrate the beneficial effect of CDCA in the treatment of CTX-associated diarrhea in approximately 10 participants aged 2-75 years old with newly diagnosed CTX or suspected CTX who have never…
- Trial name
- NCT06260748
- Testing
- Chenodeoxycholic acid
- Where
- Israel
- Sponsor
- Leadiant Biosciences, Inc.
Fabry Disease
A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not…
- Trial name
- NCT01839526
- Testing
- Iohexol
- Where
- 22 sites in United States, Argentina and 12 more
- Volunteers
- 39 people
- Sponsor
- Genzyme, a Sanofi Company
Gout and Hyperuricemia
SAVE-Care (Sodium Glucose Cotransporter-2 Inhibitors [SGLT2i] As Novel Gout Care) Trial
SAVE-Care (Sodium Glucose Cotransporter-2 inhibitors [SGLT2i] As Novel Gout Care) Trial is a double-blind randomized placebo-controlled trial (RCT) designed to assess the effect of empagliflozin on serum urate [SU] levels of gout…
- Trial name
- SAVE-Care (NCT06674109)
- Testing
- Empagliflozin 10 mg
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Massachusetts General Hospital
Fabry Disease
Alpha-Galactosidase A Replacement Therapy for Fabry Disease
This study will determine the safety of the drug Replagal or treating patients with Fabry disease, an inherited metabolic disorder.
- Trial name
- NCT00048906
- Testing
- DRX005B
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Progeria
Clinical Studies of Progeria
This study will examine children with Hutchinson-Gilford Progeria syndrome, a genetic disease that causes many changes to the body over time, including heart disease, bone changes, hair loss, and joint and skin changes.
- Trial name
- NCT00094393
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Gas and Bloating, Diarrhea
Radicle GI Health RDH™: A Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
A Randomized, Double-Blind, Placebo-Controlled Direct-to-Consumer Study Assessing the Impact of Health and Wellness Products on Gastrointestinal (GI) Health and Related Health Outcomes
- Conditions
- Gas and Bloating, Diarrhea, Constipation
- Trial name
- NCT07230821
- Testing
- GI Health Active Product 1
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Radicle Science
Familial Hypercholesterolemia
Genetic Causes of Hypercholesterolaemia in the Emirati Population
The scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease.
- Trial name
- NCT03597958
- Testing
- Next generation sequencing (NGS)
- Where
- United Arab Emirates
- Volunteers
- 1,000 people
- Sponsor
- Imperial College London Diabetes Centre
MPS III B, Mucopolysaccharidosis Type IIIB
A Treatment Study of Mucopolysaccharidosis Type IIIB
The study's primary objectives are to evaluate the safety and tolerability of AX 250 administered to subjects with MPS IIIB via an ICV reservoir and catheter and to evaluate the impact of AX 250 on cognitive function in patients…
- Trial name
- MPS IIIB (NCT02754076)
- Testing
- AX 250
- Where
- 7 sites in United States, Colombia and 5 more
- Volunteers
- 23 people
- Sponsor
- Allievex Corporation
Transthyretin (TTR) Amyloid Cardiomyopathy
Safety and Efficacy of Tafamidis in Patients With Transthyretin Cardiomyopathy
This Phase 3 study will investigate the efficacy, safety and tolerability of an oral daily dose of 20 mg or 80 mg tafamidis meglumine capsules compared to placebo in subjects with either transthyretin genetic variants or…
- Trial name
- ATTR-ACT (NCT01994889)
- Testing
- Tafamidis
- Where
- 80 sites in United States, Belgium and 11 more
- Volunteers
- 441 people
- Sponsor
- Pfizer
Amyloidosis Cardiac
Ultrasound Therapy In Cardiac Amyloidosis
This is a prospective pilot clinical study of subjects with cardiac amyloidosis and control subjects without amyloidosis where we plan to evaluate changes in myocardial blood flow, systolic and diastolic function before and after…
- Trial name
- UTICA (NCT04667494)
- Testing
- Sonotherapy
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Lysosomal Storage Disease
The Classification and Cause of Leukodystrophies of Unknown Cause
Leukodystrophy is a disease of the white matter of the brain. White matter is the portion of the brain responsible for conducting electrical impulses from one area of the brain to the other.
- Trial name
- NCT00001671
- Where
- 5 sites in United States, France and 2 more
- Volunteers
- 400 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Progeria
Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria
This is a phase I/II dose-escalation trial of everolimus in combination with lonafarnib in Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (henceforth "progeria").
- Trial name
- NCT02579044
- Testing
- Everolimus and lonafarnib
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Boston Children's Hospital
Hypophosphatasia (HPP)
Evaluation of Bone Architecture and Bone Strength in Adults With Hypophosphatasia (HPP)
The study aims to evaluate the bone architecture and bone strength in adults with Hypophosphatasia (HPP).
- Trial name
- BABS (NCT04181164)
- Testing
- Microindentation, High resolution peripheral quantitative computed tomography (HRpQCT), Biochemical analysis of different bone markers.
- Where
- Denmark
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hvidovre University Hospital
Congenital Disorder of Glycosylation
Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation
Researchers are trying to assess whether the use of simple sugars given as a daily dietary supplement can improve the health of children with congenital disorders of glycosylation (CDG).
- Trial name
- NCT04198987
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Mayo Clinic
Familial Hypercholesterolemia
Child-Parent Familial Hypercholesterolemia Screening
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease.
- Trial name
- NCT04529967
- Testing
- no interventions
- Where
- 6 sites in China
- Volunteers
- 15,000 people
- Sponsor
- Children's Hospital of Fudan University
Healthy, Lipodystrophy, Familial Partial
Lipodystrophy and Fat Metabolism During Exercise
Mandibular dysplasia with deafness and progeroid features (MDP) syndrome is a rare genetic metabolic disorder that causes lipodystrophy: the inability of the body to store subcutaneous adipose tissue (fat under the skin).
- Trial name
- FAT (NCT04056000)
- Testing
- Caffeine, High-carbohdyrate breakfast, 60-minutes of steady state exercise
- Where
- United Kingdom
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Exeter
Wilson Disease
The Clinical Study of Botulinum Toxin Type A Injection in the Treatment of Wilson Disease
In order to expand the treatment of Wilson disease and improve the quality of life of patients with Wilson's disease, the clinical effect of botulinum toxin type A injection on Wilson's disease was discussed.
- Trial name
- WD (NCT06762509)
- Testing
- Botulinum toxin type A
- Where
- China
- Volunteers
- 60 people
- Sponsor
- The First Affiliated Hospital of Anhui University of Traditional Chinese Medicine
Hyperuricemia
ALLN-346 Single Ascending Dose (SAD) Study in Healthy Volunteers
The purpose of this study is to evaluate the safety of ALLN-346 in healthy volunteers, in this first in human, single ascending dose study. ALLN-346 is an enzyme that degrades urate in the gastrointestinal tract.
- Trial name
- SAD (NCT04236219)
- Testing
- ALLN-346
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Allena Pharmaceuticals
Danon Disease
Danon Disease Natural History Study
The goal of this international observational study is to learn about the natural history of Danon disease in male patients (≥8 years of age) and female patients (8 to 50 years of age).
- Trial name
- NCT06214507
- Testing
- No intervention
- Where
- 16 sites in United States, Australia and 5 more
- Volunteers
- 60 people
- Sponsor
- Rocket Pharmaceuticals Inc.
Wilson Disease
Natural History of Wilson Disease
The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD).
- Trial name
- NCT03334292
- Where
- 6 sites in United States, Germany and 1 more
- Volunteers
- 300 people
- Sponsor
- Yale University
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