Clinical trials: Genetic Conditions
Genetic Neurodevelopmental Disorders
Hypogonadotrophic Hypogonadism in Genetic Neurodevelopmental Conditions
Hypogonadism is the medical name for a condition in which levels of the hormones which control sexual development are lower than normal. There are dozens of different causes of hypogonadism.
- Trial name
- NCT07049042
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- University of Sheffield
Mesothelioma, Lung Neoplasms
Chest Wall Motion Analysis in Disease
Breathing movements, called chest wall motion, are very complex. The investigators are studying how movement of the abdomen, ribs and diaphragm contribute to breathing and how this differs with different diseases in the chest.
- Conditions
- Mesothelioma, Lung Neoplasms, Surgery, Cystic Fibrosis
- Trial name
- CWM (NCT02958683)
- Testing
- Chest wall motion analysis
- Where
- United Kingdom
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Heart of England NHS Trust
Gaucher Disease, Acid SphingoMyelinase Deficiency
PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD"
The study of splenomegaly, and the follow-up of splenectomized patients, is one of the causes of referral of these patients to pediatric gastroenterology and oncohematology clinics, and adult internal medicine and hematology.
- Conditions
- Gaucher Disease, Acid SphingoMyelinase Deficiency, ASMD, Niemann-Pick Diseases
- Trial name
- PREDIGA-2 (NCT05641103)
- Testing
- Patient with splenomegaly or splenectomy
- Where
- 14 sites in Spain
- Volunteers
- 122 people
- Sponsor
- Fundación Española de Hematología y Hemoterapía
Fabry Disease
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
In patients with Fabry disease, this research study explores the presence of podocytes in their urine as a potential non-invasive biomarker for baseline kidney disease; and explores changes in the quantity of podocytes in their…
- Trial name
- NCT02994303
- Where
- 3 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Washington
Pulmonary Disease, Chronic Obstructive
Osteoprotegerin (OPG) in Induced Chronic Obstructive Pulmonary Disease (COPD) Sputum
Evaluation of OPG level as disease markers has also been reported. It has been showed that patients with coronary artery disease had higher serum OPG levels than healthy volunteers.
- Trial name
- NCT00655954
- Testing
- Induced sputum
- Where
- United Kingdom
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Imperial College London
Hemophilia A
Manual Therapy in Hemophilic Arthropathy of the Ankle
Introduction: Haemophilic ankle arthropathy manifests as functional (deficit in muscle strength, mobility and proprioception), intra-articular degenerative alterations and chronic pain.
- Trial name
- NCT06816056
- Testing
- Manual Therapy
- Where
- Spain
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Investigación en Hemofilia y Fisioterapia
Alpha-1 Antitrypsin Deficiency (AATD)
Effect Of Pulmonary Rehabilitation in Patients With Alpha-1 Antitrypsin Deficiency
This single-center, longitudinal, observational, prospective study aims to assess the applicability, adherence, and clinical impact of the Active Cycle of Breathing Technique (ACBT) with augmented reality support in patients with…
- Trial name
- RRALFA1 (NCT07242079)
- Testing
- Pulmonary Rehabilitation
- Where
- Italy
- Volunteers
- 50 people
- Sponsor
- University of Parma
Fractures in Children, Apophysitis
Total Genotype Score, Growth, Maturation and Loading Exposure as Risk Factors for Injury in Elite Male Youth Football
A total genotype risk score was generated based on the findings of previous research for non-contact injury, non-contact muscle injury, tendon injury, ligament injury, fracture injury and apophysitis injury.
- Conditions
- Fractures in Children, Apophysitis, Muscle Strain, Ligament Injury
- Trial name
- NCT05220969
- Testing
- Total Genotype Risk Score
- Where
- 2 sites in United Kingdom
- Volunteers
- 95 people, healthy volunteers welcome
- Sponsor
- St Mary's University College
Kidney, Polycystic
HALT Progression of Polycystic Kidney Disease Study B
The efficacy of interruption of the renin-angiotensin-aldosterone system (RAAS) on the progression of cystic disease and on the decline in renal function in autosomal dominant kidney disease (ADPKD) will be assessed in two…
- Trial name
- HALT PKD B (NCT01885559)
- Testing
- Lisinopril, Telmisartan
- Where
- 7 sites in United States
- Volunteers
- 486 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Hyperuricemia, Gout
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ABP-671
The purpose of this study is to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of multiple ascending doses of ABP-671 administered orally in subjects with hyperuricemia.
- Trial name
- NCT04060173
- Testing
- ABP-671
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Atom Therapeutics Co., Ltd
Skin Disease, Skin Disorder
Coping Strategies, Loneliness, and Resilience in Patients With Dermatosis
The European Society for Dermatology \& Psychiatry (ESDaP) studies the connection between the skin and the mind. Two previous studies of this type were conducted in 13 and 15 European countries, respectively.
- Conditions
- Skin Disease, Skin Disorder, Skin Condition, Inflammatory Skin Conditions
- Trial name
- ESDaP3 (NCT07640373)
- Testing
- Questionnaires
- Where
- France
- Volunteers
- 375 people, healthy volunteers welcome
- Sponsor
- University Hospital, Brest
Complex Regional Pain Syndrome I (CRPS I), Nerve Entrapment Syndrome
Median Nerve Decompression for Complex Regional Pain Syndrome: A Clinical Study
This clinical study evaluates the effectiveness of surgical treatment in patients with upper-limb complex regional pain syndrome (CRPS) diagnosed according to the Budapest criteria.
- Trial name
- CRPS-SURG (NCT07263256)
- Testing
- Lesion-Specific Surgical Correction, Median Nerve Decompression
- Where
- Czechia
- Volunteers
- 74 people
- Sponsor
- Jitka Fricova
Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst
The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics
The long-term goal of our PIC is to develop effective strategies that can be applied clinically at the point-of-care to prevent, intercept, or detect PDAC at an early stage, thereby reducing PDAC burden and saving lives.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Pancreatic Cyst, Chronic Pancreatitis, Fatty Pancreas
- Trial name
- NCT05692596
- Testing
- Data collection
- Where
- United States
- Volunteers
- 317 people, healthy volunteers welcome
- Sponsor
- H. Lee Moffitt Cancer Center and Research Institute
Atopic Dermatitis, Psoriasis
Meditation in Inflammatory Dermatosis
Psoriasis and atopic dermatitis are multifactorial inflammatory dermatoses, with a very high prevalence, reaching more than 120 million patients in the world.
- Conditions
- Atopic Dermatitis, Psoriasis, Pruritus
- Trial name
- MediDermIn (NCT05500794)
- Testing
- MBSR (Mindfulness-Based Stress Reduction)
- Where
- France
- Volunteers
- 72 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Leukemia
Molecular Epidemiology of Acute Myelogenous Leukemia
Little is known about the epidemiologic risk factors associated with the development of acute myelogenous leukemia (AML), and less is known about the role that genetic susceptibility plays in the development of AML.
- Trial name
- NCT00502983
- Testing
- Interview
- Where
- United States
- Volunteers
- 519 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Thinness, Health Behavior
How do Super Lean Subjects Keep Resistant to Body Weight Gain?
Obesity is the 5th leading cause of global death, and is major risk factors for many chronic diseases, such as type 2 diabetes, cardiovascular diseases, hypertension and cancer.
- Conditions
- Thinness, Health Behavior, Genetics
- Trial name
- NCT03221322
- Testing
- Superlean
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences
Overweight, Obesity
Anti-inflammatory Dietary Intervention in Overweight and Obese Adolescents
The number of overweight and obese children has increased in Ireland at a greater rate than worldwide trends. The poor eating patterns that drive adolescent obesity leads to an increase in the number of unhealthy inflammatory…
- Trial name
- NCT01665742
- Testing
- Supplement containing fish oil, vitamin C, alpha-tocopherol, green tea extract and lycopene
- Where
- 3 sites in Ireland
- Volunteers
- 58 people
- Sponsor
- University College Dublin
Intrauterine Growth Retardation
Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation
OBJECTIVES: I. Determine if mutations in the gene encoding the insulin-like growth factor-I receptor lead to relative insulin-like growth factor-I insensitivity and produce intrauterine growth retardation in children.
- Trial name
- NCT00005105
- Where
- 5 sites in United States
- Volunteers
- 75 people
- Sponsor
- National Center for Research Resources (NCRR)
Attention Deficit Hyperactivity Disorder, Schizophrenia
Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers
Magnetic Resonance Imaging (MRI) unlike X-rays and CT-scans does not use radiation to create a picture. MRI use as the name implies, magnetism to create pictures with excellent anatomical resolution.
- Conditions
- Attention Deficit Hyperactivity Disorder, Schizophrenia, Attention Deficit Disorder With Hyperactivity
- Trial name
- NCT00001246
- Where
- United States
- Volunteers
- 4,276 people
- Sponsor
- National Institute of Mental Health (NIMH)
PSP, PSP - Progressive Supranuclear Palsy
The CurePSP Genetics Program
This study is an observational, prospective genetic study. It aims to obtain DNA for research and testing from patients with PSP, CBS, MSA, and related neurological conditions and their families.
- Conditions
- PSP, PSP - Progressive Supranuclear Palsy, Corticobasal Syndrome, Corticobasal Syndrome(CBS)
- Trial name
- NCT06647641
- Testing
- Whole genome sequencing will be performed at the NIH
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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