Clinical trials: Genetic Disorders
Manual Lymphatic Drainage, Swedish Massage
Comparison of Acute Effect of Different Manual Techniques on Muscle Fascia Stiffness
There are studies investigating the effect of different massage methods on muscle fascia stiffness but the results do not support each other.
- Conditions
- Manual Lymphatic Drainage, Swedish Massage, Muscle Fascia Stiffness
- Trial name
- NCT04324775
- Testing
- Exercise + Manual Lymphatic Drainage, Exercise + Swedish massage
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Marmara University
Retinoblastoma, Cancer Survivor
Studying Health Outcomes After Treatment in Patients With Retinoblastoma
This trial studies health outcomes after treatment in patients with retinoblastoma. Gathering health information over time from patients and family members through vision assessments, samples of tissue and saliva, and…
- Conditions
- Retinoblastoma, Cancer Survivor, Biological Sibling, Intraocular Retinoblastoma
- Trial name
- RIVERBOAT (NCT03932786)
- Testing
- Biospecimen collection, Vision assessment, Questionnaire administration
- Where
- 11 sites in United States, Canada
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Vanderbilt-Ingram Cancer Center
Therapeutic Equivalency
A Bioequivalence Study Comparing Methylprednisolone Suspension to Methylprednisolone Tablets Under Fed Conditions
A study to determine whether a new formulation of methylprednisolone suspension is bioequivalent to methylprednisolone tablets under fed conditions.
- Trial name
- NCT01405170
- Testing
- methylprednisolone
- Volunteers
- healthy volunteers welcome
- Sponsor
- Pfizer
Fear, Stress
Epi-Genetic Modulators of Fear Extinction in Alcohol Dependence
Background: Researchers want to learn if people with alcohol dependence have more difficulty learning to feel calm, or learn to fear things more easily.
- Conditions
- Fear, Stress, Alcohol Dependence
- Trial name
- NCT02438969
- Where
- United States
- Volunteers
- 96 people, healthy volunteers welcome
- Sponsor
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
Endometrial Adenocarcinoma, Endometrial Carcinoma
Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care
This clinical trial studies universal screening for deoxyribonucleic acid (DNA) mismatch repair deficiency in patients with endometrial cancer, mutations in the genes responsible for Lynch syndrome (inherited forms of endometrial…
- Conditions
- Endometrial Adenocarcinoma, Endometrial Carcinoma, Lynch Syndrome, Relatives
- Trial name
- OPTEC (NCT03460483)
- Testing
- Genetic Counseling, Genetic Testing, Laboratory Biomarker Analysis
- Where
- 9 sites in United States
- Volunteers
- 1,001 people, healthy volunteers welcome
- Sponsor
- Ohio State University Comprehensive Cancer Center
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men
A Study to Learn How Elinzanetant Moves Into, Through, and Out of the Body, How Safe it is, and How it Affects the Body in Participants With Kidneys That do Not Work as Well as They Should Compared to Participants Whose Kidneys Work Normally
Researchers are looking for a better way to treat people who have vasomotor symptoms (VMS). The symptoms of VMS are hot flashes. These symptoms can be caused by changes in sex hormone levels.
- Trial name
- NCT05071729
- Testing
- Elinzanetant (BAY3427080)
- Where
- 2 sites in United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Bayer
Lysosomal Acid Lipase Deficiency, Obesity
Metabolic Effects of Very Low Carbohydrate Ketogenic Diet in Subjects With Severe Obesity
The very low carbohydrates diet (VLCKD) induces liver steatosis amelioration. Lysosomal acid lipase (LAL) deficiency plays a role in fats accumulation in liver. To date, no studies have assessed LAL activity in morbid obesity.
- Conditions
- Lysosomal Acid Lipase Deficiency, Obesity, Ketogenic Dieting, Ketosis
- Trial name
- NCT03564002
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Of Perugia
Autosomal Dominant Polycystic Kidney Disease
Adrenal Functions in Autosomal Dominant Polycystic Kidney Disease
We aimed to evaluate the hypothalamus-pituitary-adrenal axis in autosomal dominant polycystic kidney disease (ADPKD) patients. Twenty two ADPKD patients and 27 healthy subjects were enrolled.
- Trial name
- NCT00598377
- Testing
- Tetracosactin
- Where
- Turkey (Türkiye)
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Istanbul University
Healthy
A First in Human Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Single and Multiple Ascending Doses of Inhaled ETD002 in Healthy Subjects
This is a first in human study of ETD002 a new drug being developed for the treatment of cystic fibrosis.The study is a randomised, double-blind, placebo-controlled, interventional study to assess the safety and tolerability of…
- Trial name
- NCT04488705
- Testing
- ETD002 - single dose, ETD002 - 7 day repeat dose, ETD002 - 14 day repeat dose
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Enterprise Therapeutics Ltd
Homocystinuria
Study of Homocysteine Metabolism in Homocystinuria
OBJECTIVES: I. Determine basal and postmethionine plasma homocysteine in patients with premature vascular disease, cystathionine beta-synthase (CBS) or methylenetitrahydrofolate reductase (MTHFR) deficiency, and in obligate…
- Trial name
- NCT00004356
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)
Phenylketonuria
SNAP: Study Nutrients in Adult PKU
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine…
- Trial name
- SNAP (NCT03858101)
- Where
- 4 sites in Belgium, Denmark and 1 more
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Nutricia Research
Alzheimer's Disease, Brain Neoplasm
PET Scan of Brain Metabolism in Relation to Age and Disease
The main source of energy for the brain comes from a combination of oxygen and glucose (sugar). For brain cells to function normally they must receive a constant supply of these nutrients.
- Conditions
- Alzheimer's Disease, Brain Neoplasm, Niemann Pick Disease
- Trial name
- NCT00001972
- Testing
- 15 O Water
- Where
- United States
- Volunteers
- 123 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
CMT - Charcot-Marie-Tooth Disease, CMT1A
AUTONOMOUS DISORDERS IN CMT
Hereditary neuropathies are a phenotypically and genetically heterogeneous group of disorders. One of the most common forms is Charcot-Marie-Tooth neuropathy (CMT), which can be further divided into demyelinating (CMT1) and…
- Conditions
- CMT - Charcot-Marie-Tooth Disease, CMT1A, CMT (Charcot Marie Tooth Disease)
- Trial name
- CMT-autonom (NCT07570446)
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Medical Center Goettingen
Prostate Cancer
The Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS)
Prostate cancer is the most common non-skin cancer among Veterans and the second leading cause of male cancer death. Current methods of screening men for prostate cancer are inaccurate and cannot identify which men do not have…
- Trial name
- ProGRESS (NCT05926102)
- Testing
- Precision screening intervention, Usual care
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- VA Office of Research and Development
Cardiovascular Phenotype, Metabolic Phenotype
Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study
Background: Mosaicism is a condition in which cells within the same person have a different genetic makeup. Sometimes, a type of mosaicism called 45,X may not be discovered in a woman until she undergoes routine tests during…
- Conditions
- Cardiovascular Phenotype, Metabolic Phenotype, Hypertensive Disease, Psychological Phenotype
- Trial name
- NCT05548881
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Melanoma, Skin Cancer
A Model for Genetic Susceptibility: Melanoma
The goal of this study is to find out if some people are more likely to get melanoma, a form of skin cancer, than others are. To do this we will compare people who have had more than one melanoma to people who have had only one…
- Trial name
- NCT00591500
- Testing
- Questionnaire
- Where
- United States
- Volunteers
- 4,082 people, healthy volunteers welcome
- Sponsor
- Memorial Sloan Kettering Cancer Center
Genetic Polymorphism, Macular Degeneration
Does Complement Factor H Gene Polymorphism Play a Role in the Regulation of Vascular Tone in the Choroid?
Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Most importantly a genetic polymorphism in the gene encoding for the complement factor H (CFH) has been recently identified which…
- Conditions
- Genetic Polymorphism, Macular Degeneration, Regional Blood Flow, Ocular Physiology
- Trial name
- NCT00708929
- Testing
- Squatting
- Where
- Austria
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
Healthy
Metabolic Availability of Methionine and Lysine From Rice, Wheat, Chickpea and Lentil in Adult Men
The research study is being done so we can determine the quality of the protein present in Rice, Wheat, Chickpeas and Lentils. Amino acids are the building blocks of protein and protein quality is determined by the amount of…
- Trial name
- NCT03674736
- Testing
- Dietary Intakes
- Where
- Canada
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
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