Clinical trials: Multiple Anomalies
Cystic Fibrosis, Mucociliary Clearance
A Randomized, Double-Blind, Placebo-Controlled Multiple Dose Trial of GS-9411 in Healthy Volunteers
The purpose of this study is to evaluate the safety and tolerability of repeated doses of GS-9411 in healthy volunteers. GS-9411 is a sodium channel inhibitor, that may restore airway hydration and mucociliary clearance in the…
- Conditions
- Cystic Fibrosis, Mucociliary Clearance, Airway Hydration
- Trial name
- NCT00999531
- Testing
- GS-9411
- Where
- Australia
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Gilead Sciences
Trisomy 21 and Other Fetal Aneuploidy
Automated Screen for Fetal Aneuploidy
The purpose of this study is to develop and evaluate a blood test and automated microfluidic test platform for the prenatal screening of fetal aneuploidy.
- Trial name
- FAST1 (NCT03635359)
- Testing
- blood test
- Where
- 6 sites in Australia, Belgium and 4 more
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- BioCeryx
Familial Adenomatous Polyposis, Map Syndrome
Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes
This is an observational, case-control study evaluating the quantitative level of Septin9 in plasma pre- and post-colectomy in hereditary colorectal cancer (CRC) syndrome patients (Familial Adenomatous Polyposis (FAP), Lynch…
- Conditions
- Familial Adenomatous Polyposis, Map Syndrome, Lynch Syndrome, Hnpcc
- Trial name
- Septin9 (NCT02198092)
- Testing
- Epi proColon Testing
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Down Syndrome, Autonomic Dysfunction
Exploring Sympathetic Nervous System Function in Individuals With Down Syndrome
Down syndrome (DS), the most common genetic cause of intellectual disability, is associated with widespread organ dysfunction, including abnormalities in the autonomic nervous system (ANS).
- Trial name
- DIVE (NCT07238465)
- Testing
- Cold Stress, Maximal Dynamic Exercise, Isometric Handgrip Exercise with Post-Exercise Muscle Ischemia
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Prader Willi Syndrome
Post Exercise Irisin Levels in PWS Patients
Post exercise irisin levels in PWS patients Obesity, short stature, hypogonadism, hypotonia and impaired cognition are the major clinical features of Prader-Willi syndrome (PWS), a complex neurogenetic disorder due to lack of…
- Trial name
- NCT02728544
- Testing
- exercise and blood tests
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Shaare Zedek Medical Center
Myotonic Dystrophy 1
Home-based Training and Supplementation in DM1 Patients
Myotonic dystrophy type 1 (DM1) is a rare genetic disease that affects about 1 in 2100 people. Patients diagnosed with DM1 present with many symptoms, however, their muscles are mainly affected.
- Trial name
- DM1HBET (NCT05848830)
- Testing
- Mult-ingredient supplement, Concurrent exercise training
- Where
- Canada
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McMaster University
Skin Laxity (Submental and Neck), Facial Skin Laxity
Safety and Effectiveness Evaluation of the High-intensity Focused Ultrasound Device for Lifting Lax Submental and Neck Tissue
This is a prospective, multicenter, randomized, evaluator-blinded, parallel-controlled, non-inferiority clinical study designed to evaluate the safety and effectiveness of the ULTRAFORMER MPT PLUS, a high-intensity focused…
- Conditions
- Skin Laxity (Submental and Neck), Facial Skin Laxity, Submental Tissue Laxity
- Trial name
- NCT07229430
- Testing
- ULTRAFORMER MPT PLUS, Ulthera System
- Where
- 5 sites in United States
- Volunteers
- 273 people, healthy volunteers welcome
- Sponsor
- CLASSYS Inc.
Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy
Non-invasive Prenatal Diagnostic Validation Study
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
- Conditions
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations
- Trial name
- NIPD (NCT01574781)
- Testing
- Blood draw, Cheek swab/Saliva Sampling
- Where
- United States
- Volunteers
- 1,781 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Parent-Child Relations
Effects of Infant Massage on Acceptance, Commitment and Conscience of Influence of Parents With Down Syndrome Babies
This study aims to analyze whether the course of infant massage serves as a tool to improve acceptance, commitment and awareness of influence of parents of babies with Down syndrome.
- Trial name
- NCT03126734
- Testing
- Infant Massage course
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University of Seville
Autosomal Dominant Polycystic Kidney Disease
Intrarenal Microvasculature in ADPKD
The primary objective of this study is to evaluate the use of Super-resolution ultrasound (SRU) to assess the intrarenal microvasculature in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and healthy…
- Trial name
- NCT05288998
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Androgenic Alopecia
Effect of Pumpkin Seed Oil on Hair Growth in Men With Androgenetic Alopecia
Androgenic alopecia is the most common cause of hair loss in men. Finasteride and minoxidil are available in treatment of androgenetic alopecia, although the former causes decreased libido or ejaculate volume, erectile…
- Trial name
- NCT01852487
- Testing
- 400mg /day during 6 months
- Where
- South Korea
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Dream Plus
Rett Syndrome, Prader-Willi Syndrome
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW
This study will investigate sleep behavior in subjects with Angelman Syndrome, Rett Syndrome or Prader-Willi Syndrome. The study will also investigate sleep behavior in healthy siblings of subjects with Angelman Syndrome, Rett…
- Conditions
- Rett Syndrome, Prader-Willi Syndrome, Angelman Syndrome, Sleep Problems
- Trial name
- RDCRN (NCT02670694)
- Where
- 9 sites in United States
- Volunteers
- 804 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Chromosome Disorders
Melatonin Levels in Smith Magenis Syndrome (SMS)
The goal of this pilot project is to determine whether melatonin levels are disordered in patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct abnormal circadian rhythms in SMS patients.
- Trial name
- NCT00691574
- Testing
- Melatonin, Enviro-light artificial light box
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Huntington Disease
IMarkHD: in Vivo Longitudinal Imaging of HD Pathology
iMarkHD is an adaptive, longitudinal positron emission tomography (PET) and magnetic resonance (MR) imaging study in Huntington's disease (HD) that aims to assess abnormal molecular, functional, and structural changes in…
- Trial name
- NCT03434548
- Testing
- PET imaging, Multi-modal MRI imaging
- Where
- United Kingdom
- Volunteers
- 113 people, healthy volunteers welcome
- Sponsor
- King's College London
Laxity; Skin
Long-Term Efficacy and Duration of MFU-V at Multiple Depths and at 1.5 mm
The goal of this clinical trial is to evaluate the long-term safety and effectiveness of Ultherapy Prime (MFU-V) for improving lines, wrinkles, laxity, and crepiness of the lower face, submentum, and neck.
- Trial name
- NCT07224308
- Testing
- Ultherapy Prime
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- The Levine Center for Plastic Surgery
Bronchopulmonary Dysplasia
The Role of Volatile Organic Compounds (VOCs), Airway Mucins and the Microbiome in the Early Prediction of Bronchopulmonary Dysplasia (BPD)
Bronchopulmonary dysplasia (BPD), the most common respiratory complication of extremely preterm birth, significantly impacts healthcare with high morbidity and mortality rates.
- Trial name
- INFANCY (NCT06342752)
- Testing
- Breath test, Throat swabs, Placental samples
- Where
- Belgium
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University Hospital, Antwerp
Chronic Myeloproliferative Disorders, Leukemia
Flu Vaccine in Preventing Influenza Infection in Healthy Volunteers and in Patients Who Have Undergone Stem Cell Transplant
RATIONALE: Studying immune response to flu vaccine in patients who have undergone a stem cell transplant may help doctors plan the best treatment.
- Conditions
- Chronic Myeloproliferative Disorders, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm
- Trial name
- NCT00964821
- Testing
- trivalent influenza vaccine, Immunoenzyme technique, Laboratory biomarker analysis
- Where
- 2 sites in United States
- Volunteers
- 459 people, healthy volunteers welcome
- Sponsor
- City of Hope Medical Center
RASopathy, Costello Syndrome
Solid Tumors in RASopathies
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic…
- Conditions
- RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome, Noonan Syndrome
- Trial name
- 4218 (NCT05761314)
- Testing
- Molecular characterization of solid tumor in RASopathies
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Long QT Syndrome
Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
Part 1: This is a Phase 1b, randomized, double-blind, crossover, dose escalation, placebo-controlled study to evaluate the effect of oral LQT-1213 on dofetilide-induced QTc prolongation in healthy adult subjects.
- Trial name
- NCT05906732
- Testing
- LQT-1213, Dofetilide 250 μg Cap
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Thryv Therapeutics, Inc.
Hyperbilirubinemia, Neonatal
TCB Self-Monitoring in Healthy Term and Near-Term Neonates
The goal of this observational study is to monitor the transcutaneous bilirubin (TCB) level in healthy near-term and full-term neonates from birth to 30 days of age across China.
- Trial name
- NCT06645158
- Testing
- Transcutaneous bilirubin level monitoring
- Where
- China
- Volunteers
- 220,950 people, healthy volunteers welcome
- Sponsor
- Neonatal-Infant Brain and Behavior Development Network