Clinical trials: Multiple Anomalies
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
Down Syndrome, Trisomy 21
The Human Trisome Project
The Human Trisome Project will significantly increase the speed of Down syndrome research and the understanding of associated medical conditions. Its biobank will provide de-identified samples to research.
- Trial name
- HTP (NCT02864108)
- Where
- United States
- Volunteers
- 2,500 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Epilepsy
A Study of the Safety and Tolerability of GWP42006 in Healthy Subjects
The primary objective of this study is to evaluate the safety and tolerability of single ascending (increasing) and multiple doses of GWP42006 compared with placebo.
- Trial name
- NCT01918735
- Testing
- GWP42006
- Where
- United Kingdom
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Jazz Pharmaceuticals
Prader Willi Syndrome, Hyperphagia
Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact
The goal of this observational study is to explore brain network changes and identify patterns related to hyperphagia, hormonal treatment effects, and cognitive deficits in adults with Prader-Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Trial name
- NCT06900335
- Testing
- GH treatment (Somatropin), Eating
- Where
- Spain
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Hypertension, Aging
Wild Blueberries and Cardiovascular Health in Middle-aged/Older Men and Postmenopausal Women
Cardiovascular disease (CVD) is the leading cause of morbidity and mortality worldwide. Aging is the primary risk factor for CVD, in large part due to adverse modifications to the arteries.
- Conditions
- Hypertension, Aging, Endothelial Dysfunction, Men
- Trial name
- WB2020 (NCT04530916)
- Testing
- Blueberry Powder
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Colorado State University
Down Syndrome, SARS-CoV-2 Vaccination
Prospective Monitoring of Antibody Response Following COVID-19 Vaccination in Patients With Down Syndrome.
The risk of severe course of SARS-CoV-2 infection in people with Down Syndrome is substantially increased. The risk of death is 3-10 fold higher than in healthy people.
- Trial name
- PRIDE (NCT05145348)
- Testing
- Immune response to Sars-CoV-2 vaccinations; including COVID-19 vaccin Moderna, Comirnaty (Pfizer) and Vaxzevria (AstraZeneca)
- Where
- Netherlands
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Gout, Hyperuricemia
SAD,MAD and Food Effect Study of SAP-001 Tablets in Chinese Subjects
To evaluate the pharmacokinetics (PK) profile of single or multiple oral doses of SAP-001 tablets in healthy Chinese subjects and gout patients with hyperuricemia.
- Trial name
- NCT06678581
- Testing
- SAP-001
- Where
- China
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Shanton Pharma Co., Ltd.
Cystic Fibrosis, Healthy
Multiple Breath Nitrogen Washout in Healthy and Cystic Fibrosis Children
This study compares the lung clearance index (LCI) in cystic fibrosis and healthy children obtained with two different multiple breath nitrogen washout (MBWN2) devices.
- Trial name
- NCT02378454
- Testing
- Comparison of two MBWN2 devices : "EasyOne Pro Lab" versus "Exhalyzer D"
- Where
- Belgium
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Healthy Subjects, Sickle Cell Disease
A Study of the Safety, Blood Levels and Biological Effects of GBT440 in Healthy Subjects and Subjects With Sickle Cell Disease
The purpose of this study is to assess the safety, tolerability, pharmacokinetic, and pharmacodynamic effects of GBT440 compared with placebo in healthy subjects and subjects with sickle cell disease (SCD).
- Trial name
- NCT02285088
- Testing
- GBT440
- Where
- United Kingdom
- Volunteers
- 133 people, healthy volunteers welcome
- Sponsor
- Global Blood Therapeutics
Healthy Participants, Hemophilia A
A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B or Factor VII Deficiency)
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamic (PD) of SR604 in healthy participants (Part A) and to evaluate the safety, tolerability, PK, PD, and efficacy of SR604…
- Conditions
- Healthy Participants, Hemophilia A, Hemophilia B, Factor VII Deficiency
- Trial name
- NCT06349473
- Testing
- SR604
- Where
- 10 sites in United States, Canada
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Equilibra Bioscience LLC
Noonan Syndrome, LEOPARD Syndrome
Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
Noonan and LEOPARD syndromes share, with variable severity, different clinical traits, notably craniofacial manifestations, cardiopathies, short stature, and juvenile cancers.
- Trial name
- NOLEO (NCT02486731)
- Where
- France
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Atopic Dermatitis
HL-300 Ointment in Healthy Volunteers
To evaluate the safety and tolerability of HL-300 ointment following single and multiple topical administrations in healthy Chinese adult volunteers.
- Trial name
- NCT07684937
- Testing
- HL-300
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Hangzhou Highlightll Pharmaceutical Co., Ltd
Netherton Syndrome
A Study of the Safety, Tolerability, Pharmacokinetics, and Immunogenicity of BCX17725
This is a first-in-human, Phase 1/1b, 4-part study that includes the evaluation of safety, tolerability, pharmacokinetics (PK), and immunogenicity of BCX17725 when administered via single and multiple doses in healthy adult…
- Trial name
- NCT06539507
- Testing
- BCX17725
- Where
- 12 sites in United States, Australia and 3 more
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- BioCryst Pharmaceuticals
Cystic Fibrosis
An Open-Label, Phase 1 Study in Healthy Adult Subjects to Examine the Effects of Multiple-Dose Ciprofloxacin on Ivacaftor and VX-661 in Combination With Ivacaftor
To evaluate the effect of ciprofloxacin on the pharmacokinetics (PK) of ivacaftor and on the pharmacokinetics of VX-661 when administered in combination with ivacaftor
- Trial name
- NCT02015507
- Testing
- ivacaftor, VX-661, ciprofloxacin
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Fetal Growth Restriction (FGR), Preeclampsia
Association of Assisted Reproductive Technologies Parameters With the Perinatal Outcome
The goal of this prospective cohort study is to examine how different parameters of assisted reproductive technologies (ART) are associated with the perinatal outcome in individuals with singleton or multiple gestations.
- Conditions
- Fetal Growth Restriction (FGR), Preeclampsia, Stillbirth, Placenta Previa
- Trial name
- NCT06918236
- Where
- 6 sites in Bulgaria, Greece and 1 more
- Volunteers
- 12,084 people, healthy volunteers welcome
- Sponsor
- Aristotle University Of Thessaloniki
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
Food Allergy, Loeys-Dietz Syndrome
Natural History and Genetics of Food Allergy and Related Conditions
Background: About 15 million Americans have a food allergy. Because there are no cures or effective prevention or treatment for food allergies, researchers want to learn more about them.
- Conditions
- Food Allergy, Loeys-Dietz Syndrome, Atopic Dermatitis, Eosinophilic Esophagitis
- Trial name
- NCT02504853
- Where
- United States
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
ADPKD, Glomerulonephritis
Effects of Systemic NO-Inhibition on Renal Hemodynamics in Patiens With Polycystic Kidney Disease and Chronic Glomerulonephritis
The study tests the hypothesis that systemic and renal nitric oxide availability is changed in polycystic kidney disease and chronic glomerulonephritis.
- Trial name
- NCT00345137
- Testing
- Ng-monomethyl-L-arginine (drug)
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Regional Hospital Holstebro