Clinical trials: Genetic Syndrome
Hiv Infection
X-linked Biological Response to HIV Sensing: the ANRS EP 53 Study
Short title : X-linked biological response to HIV sensing: the ANRS EP 53 study. Main outcome : To demonstrate that HIV-infected women carry the TLR7 c.32A>T SNP at a higher frequency than uninfected women, arguing in favor of a…
- Trial name
- X LIBRIS (NCT01952587)
- Testing
- A peripheral blood sample
- Where
- France
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- ANRS, Emerging Infectious Diseases
Developmental Delay Disorder, Genetic Disease
Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
Environment which children live and grown is very important for the all development stages. In Turkey there is no measurement for home environment evaluation so our aim is to investigate the Psychometric Properties of the Turkish…
- Conditions
- Developmental Delay Disorder, Genetic Disease, Metabolic Disease, Congenital Disorders
- Trial name
- NCT04556487
- Testing
- evaluation
- Where
- Turkey (Türkiye)
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Fabry Disease
A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects
GR181413A/AT1001 (migalastat hydrochloride) is a low molecular weight iminosugar, an analog of the terminal galactose group that is cleaved from the substrate GL-3.
- Trial name
- NCT01853852
- Testing
- GR181413A/AT1001 solution, GR181413A/AT1001 capsule, Potable water
- Where
- Australia
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Duchenne Muscular Dystrophy (DMD)
A Remote Study Using Technology to Assess Outcomes in DMD
Every year, 100 boys are born in the UK with a rare muscle disease called Duchenne muscular dystrophy. These boys cannot make an important muscle protein called dystrophin.
- Trial name
- TODDLER (NCT07423026)
- Where
- United Kingdom
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Wilson's Disease
A Registered Cohort Study on Wilson's Disease
The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of…
- Trial name
- NCT04012658
- Testing
- No intervention
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Cystic Fibrosis
Nasal Epithelial Cells/Blood Lymphocyte Markers for Cystic Fibrosis (CF)/CF Pulmonary Exacerbations
Study Hypothesis: We hypothesize that cellular markers from nasal epithelial cells and blood lymphocytes can serve as potential biomarkers reflect the underlying inflammatory state of the lung and will be helpful in determining…
- Trial name
- NCT00381628
- Testing
- epithelial cells and blood lymphocyte extraction
- Where
- United States
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Thyroid Eye Disease
A Study of AMG 732 in Healthy Participants and Participants With Thyroid Eye Disease
The primary objective of Part A of this study is to investigate the safety and tolerability of AMG 732 after single subcutaneous (SC) doses.
- Trial name
- NCT06401044
- Testing
- AMG 732
- Where
- 44 sites in United States, Australia and 10 more
- Volunteers
- 94 people, healthy volunteers welcome
- Sponsor
- Amgen
Healthy Volunteers
Evaluation Of The Potential Effect That The Administration Of Food Or Antacid Medication May Have In The Oral Absorption Of Dacomitinib (PF-00299804)
Evaluation of the potential effect that the administration of food or antacid medication may have in the oral absorption of dacomitinib relative to the administration of dacomitinib in absence of food or antacid medication
- Trial name
- NCT01702506
- Testing
- dacomitinib fasted, dacomitinib fed, dacomitinib+antacid
- Where
- Belgium
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Pfizer
Hyperlipemia, Mixed
Study to Evaluate the Safety and PK of UI018
This Study is to evaluate the safety and pharmacokinetics of a fixed dose combination formulation and co-administration.
- Trial name
- NCT05085184
- Testing
- administration of UI018, co-administration of UIC201806 and UIC201602
- Where
- South Korea
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Korea United Pharm. Inc.
Fed
Bioequivalence Study of Lisinopril and Hydrochlorothiazide Tablets (20+25) mg Under Fed Conditions
This is a randomized, open Label, balanced, two-treatment, two-period, two-sequence, single dose, cross over pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01827878
- Testing
- Lisinopril and Hydrochlorothiazide Tablets (20+25) mg, Zestoretic® 20/25 lisinopril/hydrochlorothiazide Tablets
- Where
- India
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Retinitis Pigmentosa
TES for the Treatment of RP
Retinitis pigmentosa (RP) is a progressive degenerative disease of the retina, which often leads to blindness. 1 in 4000 people in the UK are affected by RP yet there is no established therapy for treating or delaying its…
- Trial name
- TESOLAUK (NCT01847365)
- Testing
- Transcorneal electrical stimulation
- Where
- 2 sites in United Kingdom
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- University of Oxford
Brugada Syndrome
AnalyST & Brugada Syndrome - Feasibility Study
Brugada syndrome is characterized by a ST shift on the surface ECG, and a specific morphology of the Twave. This ECG abnormality is called a type 1-ECG, and is variable in time.
- Trial name
- NCT02052765
- Testing
- ECG continuous recording (Analyze ST)
- Where
- France
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Abbott Medical Devices
Cerebral Autosomal Dominant Ateriopathy With Subcortical Infarcts and Leukoencephalopathy
Registry for CADASIL
This study is being done in order to create a registry (list) of people interested in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) research.
- Trial name
- NCT05567744
- Testing
- Registry
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
Gaucher Disease
Omics Gaucher Study: Multiomic Approach
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
- Trial name
- OmicsGaucher (NCT05526664)
- Testing
- Genetic testing and Omics analysis
- Where
- Germany
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- CENTOGENE GmbH Rostock
Overweight and Obesity, Diabetes Mellitus, Type 2
Looking for Personalized Nutrition for Obesity/Type 2 Diabetes Mellitus Prevention
The objectives of this trial are to assess the effects of interactions between genetic factors and diet with various macronutrient intake on the metabolic disorders, obesity and type 2 diabetes risk, prevention, development and…
- Conditions
- Overweight and Obesity, Diabetes Mellitus, Type 2, Metabolic Syndrome, Genetic Predisposition
- Trial name
- NCT03792685
- Testing
- Normo-carbohydrate meal intake, High-carbohydrate meal intake, High-fat meal intake
- Where
- Poland
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Medical University of Bialystok
Amyloid Cardiomyopathy, Wild Type ATTR Amyloidosis
Association Between Lifetime Physical Activity and Exercise and the Development of Wild-type Transthyretin Amyloid Cardiomyopathy
The aim of this study is to investigate the association between increased lifetime physical activity and the development of wild-type transthyretin amyloid cardiomyopathy.
- Trial name
- NCT06261216
- Testing
- Interview
- Where
- Austria
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Barth Syndrome
Heart and Muscle Metabolism in Barth Syndrome
Barth syndrome (BTHS) is an X-linked disorder caused by abnormal cardiolipin metabolism and is characterized by skeletal and cardiomyopathy and high mortality rates.
- Trial name
- NCT01625663
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Duke University
Resistance, APC
Effect of Resistance Training in Water Combined With Land on Starting and Turning ,12-weeks Resistance Training
Resistance training has been widely used in various sports and is a common practice aimed at improving competition performance, especially in swimming.
- Trial name
- NCT05051826
- Testing
- Resistance training that combines water and land
- Where
- China
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Universiti Putra Malaysia
Muscular Dystrophies
A Study to Assess the Feasibility of Non-invasive Dried Blood Sampling
This is a Phase I, open-label, single-dose, 1-period study to compare EDG-5506 concentrations measured from venous and capillary blood sampling in healthy adult subjects.
- Trial name
- NCT05492734
- Testing
- EDG-5506
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Edgewise Therapeutics, Inc.
To Determine Bioequivalence Under Fed Conditions
Bioequivalence Study of Doxycycline Monohydrate Tablets Under Fed Conditions
The purpose of this study is to compare the single-dose bioequivalence of Par and Oclassen doxycycline monohydrate 100 mg.
- Trial name
- NCT01380496
- Testing
- doxycycline monohydrate
- Where
- Canada
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Par Pharmaceutical, Inc.
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