Clinical trials: Genetic Disorders
Maple Syrup Urine Disease
Neurocognitive Outcomes and Quality of Life in Adults With Maple Syrup Urine Disease (MSUD)
Maple Syrup Urine Disease (MSUD) is a disorder of protein metabolism that leads to neurological differences. It is an exciting time where people diagnosed with MSUD are living longer.
- Trial name
- NCT04828863
- Testing
- Neurocognitive testing
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Sickle Cell Disease
A GBT021601 ADME Microtracer Study in Healthy Volunteers
An Open-label Study of GBT021601 in 8 to 10 healthy male or female participants to evaluate the absorption, distribution, metabolism, and excretion (ADME) of GBT021601.
- Trial name
- NCT05718687
- Testing
- GBT021601
- Where
- Netherlands
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Pfizer
Fabry Disease
Migalastat Food Effect Study
A 5-period crossover study to evaluate the effect of meal type and timing on migalastat HCl pharmacokinetics in healthy male and female subjects.
- Trial name
- NCT01489995
- Testing
- A (migalastat), B (migalastat), C (migalastat)
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Lactose Intolerance
β-galactosidase Producing Probiotic Strains to Improve Lactose Digestion
The purpose of this study is to assess that two β-galactosidase Producing Probiotic Strains help improve lactose digestion in subjects with lactose maldigestion.
- Trial name
- NCT02518295
- Testing
- Positive control, Probiotic S. thermophilus, Probiotic B. longum
- Where
- Switzerland
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Société des Produits Nestlé (SPN)
Fetal Structural Anomalies
Prenatal Genetic Diagnosis by Genomic Sequencing
This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified…
- Trial name
- PrenatalSEQ (NCT03936101)
- Testing
- Prenatal Genomic Sequencing
- Where
- 5 sites in United States
- Volunteers
- 1,097 people, healthy volunteers welcome
- Sponsor
- Columbia University
Biospecimen Donation, Brain Injury
University of Central Florida CereBank
Millions of persons are affected by brain diseases. The CereBank will be used to support research studies aimed at improving the diagnosis and treatment of brain diseases.
- Conditions
- Biospecimen Donation, Brain Injury, Brain Diseases
- Trial name
- NCT06876857
- Where
- United States
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Amyotrophic Lateral Sclerosis, Brainstem Stroke
Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit
This project adds to non-invasive BCIs for communication for adults with severe speech and physical impairments due to neurodegenerative diseases.
- Conditions
- Amyotrophic Lateral Sclerosis, Brainstem Stroke, Muscular Dystrophies, Parkinson's Disease and Parkinsonism
- Trial name
- BCI-FIT (NCT04468919)
- Testing
- BCI-FIT multi-modal access, BCI-FIT adaptive signal modeling, BCI-FIT active querying
- Where
- United States
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Duchenne Muscular Dystrophy
The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory :PedsQLTM.
There isn't specific Health related quality of life measure for children with DMD in French. The aim of this study is to validate the French version of the Pediatric Quality of Life Inventory 3.0 Duchenne Muscular Dystrophy…
- Trial name
- ValPedsQLDMD (NCT03513367)
- Testing
- Duchenne Muscular Dystrophy of the PedsQL ™ 3.0 scale, The following data of motor function
- Where
- France
- Volunteers
- 210 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Alzheimer's Disease, Dementia
Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment
Patients with different types of dementia will be recruited and evaluated in national hospital departments for their usual neurological follow-ups.
- Conditions
- Alzheimer's Disease, Dementia, Neurodegenerative Disorders
- Trial name
- NCT00149175
- Testing
- Blood sampling, skin biopsy
- Where
- 12 sites in France
- Volunteers
- 2,256 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Phenylketonuria, Galactosemia
The Early History of Universal Screening for Metabolic Disorders
We are doing this study to learn more about the early history of universal screening for metabolic disorders such as PKU and galactosemia.
- Conditions
- Phenylketonuria, Galactosemia, Inborn Errors of Metabolism
- Trial name
- NCT00309400
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Miami
Atherosclerosis, Chronic Granulomatous Disease (CGD)
Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System
Background: Atherosclerosis, the arterial plaques or blockages that cause heart disease, develops in many people by the time they are in their mid-20s.
- Trial name
- NCT01063309
- Where
- United States
- Volunteers
- 156 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Atopic Dermatitis (AD)
MH004 Ointment in Healthy Adult Volunteers and Participants With Mild to Moderate Atopic Dermatitis
This is a Phase I/II Study of MH004 in Healthy Adult Volunteers, participants with Mild to Moderate Atopic Dermatitis.
- Trial name
- NCT07182864
- Testing
- MH004 0.1% Ointment, MH004 0.3% Ointment, MH004 1.0% Ointment
- Where
- China
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Minghui Pharmaceutical (Hangzhou) Ltd
Aortic Stenosis
Loss of Y Chromosome in Aortic Stenosis
The most common heart valve disease in humans is aortic stenosis which is a critical narrowing of the valve through which the heart has to pump blood to the rest of the body.
- Trial name
- NCT06595407
- Testing
- Blood analysis for loss-of-Y chromosome
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Congenital Complete Heart Block, Cardiac Conduction Defect Progressive
Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms
Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.
- Trial name
- NCT02881671
- Testing
- genetic blood analysis
- Where
- 2 sites in France
- Volunteers
- 2,600 people, healthy volunteers welcome
- Sponsor
- Nantes University Hospital
Major Depressive Disorder
Genetic and Neural Predictors of Adolescent Depression
This study aims to examine the relationship between mood and brain activity in adolescent girls in order to better understand the genetic and neural predictors of adolescent depression.
- Trial name
- NCT01743716
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Mclean Hospital
Osteoarthritis, Osteoporosis
Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy
In this study spatially offset Raman spectroscopy (SORS), which allows the collection of Raman spectra through turbid media, is being applied to collect Raman spectra of bone.
- Conditions
- Osteoarthritis, Osteoporosis, Osteogenesis Imperfecta, Rickets / Osteomalacia
- Trial name
- NCT02814591
- Testing
- spatially offset Raman spectrometer (SORS)
- Volunteers
- 245 people, healthy volunteers welcome
- Sponsor
- University College, London
Epidermolysis Bullosa, Healthy
Computational Drug Repurposing for All EBS Cases
The study will compare gene expression differences between blistered and non-blistered skin from individuals with all subtypes of EB, as well as normal skin from non-EB subjects.
- Conditions
- Epidermolysis Bullosa, Healthy, Genetic Skin Disease, Epidermolysis Bullosa Simplex
- Trial name
- NCT03269474
- Testing
- Experimental Group
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Joyce Teng
Asthma, Vitamin D Resistant Rickets
Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent Patients
Research Title: Evaluation of airway reactivity, allergy and inflammatory mediators in exhaled breath condensate in vitamin D resistant rickets.
- Trial name
- NCT01578824
- Testing
- Methacholine Challenge Test
- Where
- Israel
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Rambam Health Care Campus
Parkinson Disease
Ioflupane I123 (DaTSCAN) and Positron Emission Tomography-computed Tomography Fludeoxyglucose (PET-CT FDG) to Assess Brain Function of Parkinson Patients With Different Genetic Characteristics
Parkinson disease is one of the most common neurodegenerative illnesses. The disease is characterized by decrease in dopamine levels and decrease in the number of dopaminergic neurons and dopamine receptors.
- Trial name
- NCT01089283
- Where
- Israel
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Cystic Fibrosis
Non-Invasive Biomarkers in Cystic Fibrosis
Background Chronic airway inflammation is present in cystic fibrosis. Non-invasive inflammometry may be useful in disease management.
- Trial name
- NCT00413140
- Where
- 4 sites in Netherlands
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
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