Clinical trials: Metabolism, Inborn Errors
Fabry Disease
Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy
FD is pan-ethnic. Its reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Indeed, recently, in addition with affected males FD developing a "classic" phenotype, " cardiac variant " and…
- Trial name
- FABRY (NCT03230149)
- Testing
- Measurements of the alpha-GAL enzyme activity
- Where
- France
- Volunteers
- 379 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Transthyretin-Related (ATTR) Familial Amyloid Polyneuropathy
Efficacy and Safety of Acoramidis (AG10) in Subjects with Transthyretin Amyloid Polyneurophathy (ATTRibute-PN)
Phase 3 efficacy and safety of acoramidis in subjects with symptomatic Transthyretin Amyloid Polyneuropathy (ATTR-PN)
- Trial name
- NCT04882735
- Testing
- Acoramidis
- Sponsor
- Eidos Therapeutics, a BridgeBio company
Mucopolysaccharidosis Type IVA
Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA
The purpose of this study is to find out more about some of the unusual chemicals (called oligosaccharides) that can occur naturally as a result of processes in the body.
- Trial name
- NCT01733615
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Emory University
Hyperlipidemia, Familial Combined, Coronary Disease
Understanding the Genetic Basis of Familial Combined Hyperlipidemia in Mexican Individuals
Familial combined hyperlipidemia (FCHL) is an inherited disorder characterized by elevated levels of cholesterol and triglycerides; it often occurs in Mexican individuals with coronary heart disease (CHD).
- Trial name
- NCT00365235
- Where
- Mexico
- Volunteers
- 998 people, healthy volunteers welcome
- Sponsor
- University of California, Los Angeles
Fibrodysplasia Ossificans Progressiva, FOP
A Study to Investigate the Safety, Pharmacokinetics (PK), and Efficacy of Garetosmab in Children and Adolescents With Fibrodysplasia Ossificans Progressiva (FOP)
This study is researching an experimental drug called garetosmab, referred to as "study drug". The study is focused on children and adolescent participants with FOP.
- Trial name
- OPTIMA-2 (NCT07559513)
- Testing
- garetosmab
- Volunteers
- 18 people
- Sponsor
- Regeneron Pharmaceuticals
Primary Hyperoxaluria Type 1 (PH1)
Phase 1/2 Study of ABO-101 in Primary Hyperoxaluria Type 1 (redePHine)
The goal of the redePHine study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of ABO-101 in participants with primary hyperoxaluria type 1 (PH1). The trial will consist of 2 Study Periods.
- Trial name
- NCT06839235
- Testing
- ABO-101
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 23 people
- Sponsor
- Arbor Biotechnologies
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
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
Morquio's Disease
Morquio's Syndrome: a Case Study
OBJECTIVES: Relating about the benefits proportionated by the physiotherapeutic treatment for the patients that have the Morquio's syndrome.
- Trial name
- NCT00609440
- Testing
- physiotherapeutic treatment
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Clínica de Hidroterapia e Recuperacao Funcional
Wilson Disease
Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
The primary objective of the study is to determine the relevance and appropriateness of outcome assessments, including biomarkers, within the Wilson disease population to inform study design and endpoint selection for future…
- Trial name
- NCT04531189
- Where
- 6 sites in United States, Germany
- Volunteers
- 16 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
SEDC, Hypochondrogenesis
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
There are relatively few data available on type II collagen disorders, and evidence is lacking on the disease course in relation to symptoms and development of complications, the level of actual disease burden over time as well…
- Conditions
- SEDC, Hypochondrogenesis, Semd, Strudwick Type, Kniest Dysplasia
- Trial name
- ROCKET (NCT05408715)
- Testing
- Natural History Study
- Where
- 2 sites in France, Spain
- Volunteers
- 60 people
- Sponsor
- Innoskel
Albinism
Trial of L-DOPA as a Treatment to Improve Vision in Albinism
This project will evaluate the effect of two doses of levodopa (L-DOPA) in a randomized, placebo-controlled, double-masked clinical trial to see if vision can be improved in individuals with albinism.
- Trial name
- NCT01176435
- Testing
- Levodopa
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- University of Minnesota
Gout, Hyperuricemia
Safety, Tolerability, and Pharmacokinetic Characteristics of SSS11 in Patients With Gout and Hyperuricemia
This is a safety, tolerability, pharmacokinetics, and preliminary pharmacological study of multiple administration, dose escalation, randomized double-blind, placebo-controlled.The main purpose of this experiment is to evaluate…
- Trial name
- NCT06629376
- Testing
- Pegylated Recombinant Candida Utilis Uricase for Injection
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Shenyang Sunshine Pharmaceutical Co., LTD.
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
COPD, Tetrahydrobiopterin Deficiency
O2 Transport and Utilization in Health and Lung Disease
Skeletal muscle dysfunction is a frequent and clinically relevant systemic manifestation of Chronic Pulmonary Obstructive Disease (COPD), which is still poorly understood.
- Conditions
- COPD, Tetrahydrobiopterin Deficiency, Oxidative Stress
- Trial name
- NCT04014712
- Testing
- Tetrahydrobiopterin
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Massachusetts, Amherst
Fabry Disease
Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
A longitudinal pilot study will be conducted to determine if there are additional testing modalities that are effective in broadly phenotyping subclinical dysfunction in patients with Fabry disease.
- Trial name
- VDFP (NCT05699265)
- Testing
- Measures of arterial stiffness and endothelial function, Ambulatory blood pressure monitoring, Cardiopulmonary exercise testing (CPET)
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Achondroplasia
Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)
This is a long-term, multi-center, observational study in children 2.5 to <17 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications, assessments of health-related quality of life…
- Trial name
- NCT04035811
- Where
- 32 sites in United States, Argentina and 9 more
- Volunteers
- 271 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Heterozygous or Homozygous Familial Hypercholesterolemia
Long-term Safety and Tolerability of Inclisiran in Participants With HeFH or HoFH Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20, or ORION-19 Studies
The purpose of this open-label, single arm, multicenter extension study is to evaluate the long-term safety and tolerability of inclisiran in participants with HeFH or HoFH who have completed the ORION-16 (CKJX839C12301)…
- Trial name
- V-PEDS-OLE (NCT05682378)
- Testing
- Inclisiran
- Where
- 52 sites in United States, Argentina and 24 more
- Volunteers
- 195 people
- Sponsor
- Novartis Pharmaceuticals
Gout, Gouty Arthritis
Pharmacist-Led Treat-to-Target Urate Lowering Therapy in Patients With Gout
This study will compare two different approaches to manage medications that lower uric acid levels. This study will be conducted at five VA medical centers across the United States and will take 4-5 years to complete.
- Trial name
- Pham-UP (NCT06887452)
- Testing
- Pharmacist-Led
- Where
- 5 sites in United States
- Volunteers
- 310 people
- Sponsor
- VA Office of Research and Development
Fabry Disease, Endothelial Dysfunction
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
This study aims to gain a deeper understanding of endothelial dysfunction in patients with Fabry disease through a prospective study of the retinal microvasculature and to identify an objective, non-invasive marker to assess…
- Conditions
- Fabry Disease, Endothelial Dysfunction, Microvasculature
- Trial name
- VASCinFABRY (NCT06758648)
- Testing
- Dynamic retinal vessel analysis (DVA), Biochemistry and immune phenotyping, Questionnaires (Patient reported outcomes)
- Where
- Germany
- Volunteers
- 63 people
- Sponsor
- Technical University of Munich
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.