Clinical trials: Inherited Genetic Conditions
Obesity
Low Carb Diets & Exercise for Cardiovascular Disease (CVD) Reduction
The purposes of this study are: To investigate the effects of a 6 month low carbohydrate diet in obese men on markers of heart health including blood fats, blood clotting factors, inflammatory markers and levels of body fat.
- Trial name
- NCT01176084
- Testing
- low carbohydrate diet, low carbohydrate diet and exercise
- Where
- United Kingdom
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Surrey
Chronic Renal Failure, Polycystic Kidney Disease
Mesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease
This study was designed to provide confirmation of safety of mesenchymal stem cells (MSCs) therapy in chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD).
- Trial name
- NCT02166489
- Testing
- Intravenous injection autologous mesenchymal stem cells
- Where
- Iran
- Volunteers
- 6 people
- Sponsor
- Royan Institute
Breast Cancer, Benign Breast Condition
ATUSA Ultrasound Diagnostic Imaging for Breast Lesions Evaluation (AUDIBLE) - iSono Health
AUDIBLE is a multi-site, clinical study conducted in the United States aimed at gathering data on 3D Automated Breast Ultrasound imaging using the iSono Health ATUSA system.
- Conditions
- Breast Cancer, Benign Breast Condition, Breast Fibroadenoma, Breast Neoplasms
- Trial name
- AUDIBLE (NCT07505797)
- Testing
- ATUSA 3D Automated Breast Ultrasound System
- Where
- 2 sites in United States
- Volunteers
- 800 people
- Sponsor
- iSono Health, Inc.
Photoaging, Weight Loss
Evaluation of the Effects of a Biostimulator and Dermal Fillers for Cheek Augmentation and Contour Deficiencies
Adult subjects with a history of or currently taking glucagon-like peptide-1 (GLP-1) receptor agonist medication and moderate-to-severe cheek wrinkles and midface contour deficiencies will be treated with Sculptra correction of…
- Conditions
- Photoaging, Weight Loss, Skin Laxity, Photodamaged Skin
- Trial name
- NCT06351358
- Testing
- Sculptra treatment, Restylane Treatment
- Where
- 2 sites in United States
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Galderma R&D
Hearing Loss, Genetic Disease
Auditory Restoration and Outcomes After Gene Therapy and Cochlear Implantation: a PRospective Cohort Analysis (AURORA)
This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for…
- Conditions
- Hearing Loss, Genetic Disease, Speech Perception
- Trial name
- NCT06237790
- Where
- 6 sites in China
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Eye & ENT Hospital of Fudan University
Genetic Disease, Chopra-Amiel-Gordon Syndrome
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to learn more about the range of symptoms, changes in the structure of the…
- Conditions
- Genetic Disease, Chopra-Amiel-Gordon Syndrome, CAGS, ANKRD17
- Trial name
- CAGS NHS (NCT05528744)
- Testing
- Observational Study, Sample collection only
- Where
- United States
- Volunteers
- 125 people
- Sponsor
- Boston Children's Hospital
Stroke (CVA) or TIA, Diabetes
Risk Factors, Costs, and Impacts of ED Boarding
The goal of this observational study is to learn about the risk factors, costs, and operational impacts of emergency department boarding (patients admitted to the hospital but remaining in the emergency department awaiting…
- Conditions
- Stroke (CVA) or TIA, Diabetes, Asthma (Diagnosis), COPD (Chronic Obstructive Pulmonary Disease)
- Trial name
- NCT07532564
- Where
- United States
- Volunteers
- 30,486 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Lynch Syndrome, Endometrial Cancer
Frequency of Endometrial Cancer Precursors Associated with Lynch Syndrome
Given that there is a significant prevalence of Lynch syndrome among patients with endometrial cancer (about 5% of patients with endometrial cancer), and given there is a known risk of endometrial cancer among patients with…
- Conditions
- Lynch Syndrome, Endometrial Cancer, Endometrial Hyperplasia, Mismatch Repair Deficiency
- Trial name
- NCT05257057
- Testing
- Immunohistochemical staining
- Where
- United States
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- WellSpan Health
Chorea, Huntington's Disease
Treatment of Huntington's Chorea With Amantadine
Huntington's disease is a chronic disorder passed on through genetic autosomal dominant inheritance. The condition usually begins between the ages of 30 and 50 years and it is characterized by involuntary movements in the face…
- Trial name
- NCT00001930
- Testing
- Amantadine
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Klinefelter Syndrome, XXY Syndrome
Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome).
- Trial name
- TestoXXY/KS (NCT01585831)
- Testing
- Testosterone gel 1%
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- University of Colorado, Denver
Intellectual Disability, Cerebral Palsy
Oral Health Promotion Among Preschool Children With Special Needs
Establishing good oral health-related habit is challenging among younger children, especially for preschool children with special needs, as they have physical, mental, sensory, behavioural, emotional, and chronic medical…
- Conditions
- Intellectual Disability, Cerebral Palsy, Developmental Disorders, Developmental Delay
- Trial name
- NCT03522337
- Testing
- Visual pedagogy (social stories), Conventional leaflets
- Where
- China
- Volunteers
- 306 people
- Sponsor
- The University of Hong Kong
ALPS, Hypersplenism
Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS)
This study will test whether valproic acid (Depakote[Registered Trademark]) can shrink enlarged lymph glands and spleen in patients with autoimmune lymphoproliferative syndrome (ALPS).
- Conditions
- ALPS, Hypersplenism, Lymphadenopathy
- Trial name
- NCT00605657
- Testing
- Valproic Acid, CT Scan, Blood Sample
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Koneti Rao
Behçet Disease
Efficacy and Safety of Ustekinumab, a Human Monoclonal Anti-IL-12/IL-23 Antibody, in Patients With Behçet Disease
The purpose of this study is to evaluate the proof of concept of efficacy of ustekinumab in subjects with Behçet disease, including patients with oral ulcers (STELABEC-1) and patients with active posterior uveitis or panuveitis…
- Trial name
- STELABEC (NCT02648581)
- Testing
- Subcutaneous Ustekinumab
- Where
- France
- Volunteers
- 16 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Hemophilia A, Hemophilia B
Study of the Efficacy and Safety PF-06741086 in Adult and Teenage Participants With Severe Hemophilia A or Moderately Severe to Severe Hemophilia B
Treatment with PF-06741086 is anticipated to demonstrate a clinically relevant advantage and/or a major contribution to patient care in comparison to current methods of treatment for hemophilia A or B because it works differently…
- Trial name
- NCT03938792
- Testing
- PF-06741086
- Where
- 62 sites in United States, Bulgaria and 18 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Hypofibrinogenemia, Congenital, Afibrinogenemia, Congenital
Pregnancy and Fibrinogen Disorders
The aim of this observational study is to evaluate the prevalence of uncomplicated pregnancies in women suffering from congenital fibrinogen disorders (i.e, hypofibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia) as well as…
- Conditions
- Hypofibrinogenemia, Congenital, Afibrinogenemia, Congenital, Dysfibrinogenemia, Congenital
- Trial name
- FIBRINOGEST (NCT03920332)
- Where
- 3 sites in France, Slovakia and 1 more
- Volunteers
- 149 people
- Sponsor
- University Hospital, Geneva
Overweight and Obesity
UCSD Get Fit, Be Fit Study
The purpose of the Get Fit, Be Fit Study is to examine the effect of incorporating pistachios in an intensive 4-month cognitive-behavioral weight loss intervention in overweight and obese men and women, to examine effects on…
- Trial name
- NCT03387709
- Testing
- Pistachio-enriched diet, General dietary guidance diet
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of California, San Diego
Polycystic Kidney, Autosomal Dominant
The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic Kidney Disease
The aim of the study is to test the following hypotheses: 1. that the function and/or regulation of AQP2 and /or ENaC in the principal cells is abnormal in autosomal dominant polycystic kidney disease. 2.
- Trial name
- NCT00410007
- Testing
- High Sodium Diet, Low Sodium Diet, Hypertonic saline infusion
- Where
- Denmark
- Volunteers
- 29 people, healthy volunteers welcome
- Sponsor
- Carolina Cannillo
Telomere Biology Disorders, Dyskeratosis Congenita
Nucleoside Therapy in Patients With Telomere Biology Disorders
The goal of this clinical trial is to learn if a combination therapy of deoxycytidine (dC) plus deoxythymidine (dT) is safe in patients with telomere biology disorders.
- Conditions
- Telomere Biology Disorders, Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal Hreidarsson Syndrome
- Trial name
- NCT06817590
- Testing
- deoxycytidine, deoxythymidine
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Suneet Agarwal
Prader Willi Syndrome, Obesity
Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.To assess the…
- Trial name
- NCT00474643
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
Perimenopause, Perimenopause-Related Depression
Intra Ovarian Muse Cell Injection for Perimenopause Symptom Relief and Ovarian Function Restoration (MUSE-OVARY)
This observational study examines the safety and effects of injecting Muse cells (a type of naturally occurring stem like cells found in adult tissues such as fat or bone marrow) directly into the ovaries of women aged 28 to 70…
- Conditions
- Perimenopause, Perimenopause-Related Depression, Premature Ovarian Insufficiency, Premature Ovarian Failure (POF)
- Trial name
- MUSE-OVARY (NCT07511660)
- Where
- Mexico
- Volunteers
- 12 people
- Sponsor
- Healing Hope International