Clinical trials: Multiple Congenital Anomaly
ADPKD (Autosomal Dominant Polycystic Kidney Disease)
Mass Balance and Absolute Bioavailability Study of JMKX003142 In Healthy Volunteers
A phase 1 healthy volunteer study to assess the excretion and metabolism as well as the absolute bioavailability of oral JMKX003142.
- Trial name
- NCT07463053
- Testing
- [14C]JMKX003142, JMKX003142 tablets, [14C]JMKX003142 solution for infusion
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Jemincare
Tuberous Sclerosis, Neurofibromatoses
Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)
This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC)…
- Conditions
- Tuberous Sclerosis, Neurofibromatoses, Angiofibroma, Neurofibroma
- Trial name
- NCT01031901
- Testing
- Skincerity, Skincerity plus sirolimus/rapamycin, Skinercity plus sirolimus/rapamycin
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Parkinson's Disease, Parkinsonian Disorders
Gait Analysis in Neurological Disease
The purpose of this study is to investigate whether speed-dependent measures of gait (so called gait signatures) can be identified in patients with neurological conditions that affect gait, particularly in subjects with…
- Conditions
- Parkinson's Disease, Parkinsonian Disorders, Atypical Parkinson Disease, Progressive Supranuclear Palsy
- Trial name
- NCT02994719
- Testing
- Anti-Parkinson medication, Deep Brain Stimulation
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
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.
Cystic Fibrosis, Bronchiectasis
Dose Escalation Study of ALX-009 in Healthy Men and Cystic Fibrosis (CF) and Non-CF Bronchiectasis Patients
This is a Phase 1, randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability and pharmacokinetics of a single ascending doses (SAD) and multiple ascending doses (MAD) of Hypothiocyanite (OSCN-)…
- Trial name
- NCT02598999
- Testing
- ALX-009, OSCN-, bLF
- Where
- France
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Alaxia SAS
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn More About How Much of the Study Treatment Elinzanetant (or BAY3427080) Gets Absorbed, How Safe it is and How it Affects the Body in Healthy Female and Male Participants
Researchers are looking for a better way to treat men and women with vasomotor symptoms, a condition of having hot flashes caused by hormonal changes.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05351892
- Testing
- Elinzanetant (BAY3427080)
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Bayer
Prader-Willi Syndrome
Stress and Brain Response Using MEG in PWS
Individuals with Prader-Willi Syndrome (PWS) have increased hunger and food seeking behaviour, as well as learning (cognitive) challenges.
- Trial name
- NCT04032639
- Where
- 2 sites in Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
Marfan Syndrome, Ectopia Lentis
Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis.
- Trial name
- NCT04319107
- Testing
- ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.
- Where
- France
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Dermatitis, Atopic, Dermatitis Eczema
A Study To Evaluate ASN002 In Subjects With Atopic Dermatitis
This is a dose escalation study to test the safety, tolerability and preliminary efficacy of ASN002 in people with moderate to severe atopic dermatitis (AD).
- Conditions
- Dermatitis, Atopic, Dermatitis Eczema, Dermatitis, Eczematous
- Trial name
- NCT03139981
- Testing
- ASN002
- Where
- 10 sites in United States, Canada
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Asana BioSciences
Healthy Volunteer, Down Syndrome
A Molecular and Functional Brain Imaging Study in Individuals With Down Syndrome and Healthy Controls Following Single Dose RG1662
This single-center, single-blind, placebo-controlled, parallel-group study with crossover component will evaluate the GABAAalpha5 receptor expression, occupancy and functional connectivity in the brains of individuals with Down…
- Trial name
- NCT01667367
- Testing
- RG1662
- Where
- United Kingdom
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Hoffmann-La Roche
Prader-Willi Syndrome
Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
The purpose of this study is to investigate the effects of a GLP-1 agonist on satiety hormones in patients with Prader-Willi Syndrome (genetic defect causing obesity).
- Trial name
- NCT00551343
- Testing
- Exenatide
- Where
- Australia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Garvan Institute of Medical Research
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Primary Ciliary Dyskinesia, Cystic Fibrosis
Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
The aim of this study is to compare pulmonary function, respiratory muscle strength, exercise capacity and peripheral muscle strength of patients with CF, PCD and healthy childrens.
- Trial name
- NCT04161313
- Testing
- Measurement of functional capacity, pulmonary function test, Functional capacity
- Where
- Turkey (Türkiye)
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Bezmialem Vakif University
Chronic Myeloproliferative Disorders, Fanconi Anemia
Research Study in Healthy Volunteers of Patients With Fanconi Anemia, Myeloproliferative Disorders, or Myeloma
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of…
- Conditions
- Chronic Myeloproliferative Disorders, Fanconi Anemia, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic/Myeloproliferative Neoplasms
- Trial name
- NCT00900055
- Testing
- microarray analysis, polyacrylamide gel electrophoresis, polymerase chain reaction
- Where
- United States
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- OHSU Knight Cancer Institute
Rare Diseases, Thoracic Aortic Aneurysm (TAA)
Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases
The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate…
- Conditions
- Rare Diseases, Thoracic Aortic Aneurysm (TAA), Marfan Syndrome
- Trial name
- FIBRA (NCT06786754)
- Where
- Italy
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- IRCCS Policlinico S. Donato
Cystic Fibrosis
Drug-Drug Interaction Study of VX-809 and VX-770 in Healthy Subjects
The purpose of this study is to assess the pharmacokinetics and safety of co-administration of VX-770 and VX-809 in healthy adults.
- Trial name
- NCT00966602
- Testing
- VX-809, VX-770, VX-809 & VX-770
- Where
- Netherlands
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Vertex Pharmaceuticals Incorporated
Von Willebrand Diseases
Study of VGA039 in Healthy Volunteers and Patients With Von Willebrand Disease (VIVID)
The VIVID study is structured in a master protocol format comprised of multiple parts that evaluate intravenous (IV) and subcutaneous (SC) VGA039 in healthy volunteers and subjects with von Willebrand Disease (VWD) and other…
- Trial name
- NCT05776069
- Testing
- VGA039
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 116 people, healthy volunteers welcome
- Sponsor
- Vega Therapeutics, Inc
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
Prader-Willi Syndrome
Cortisol Activity in Patients With Prader-Willi Syndrome and Healthy Controls
The purpose of the study is to find out if people with Prader-Willi syndrome have a difference in the protein which changes inactive cortisone to the active stress hormone cortisol.
- Trial name
- NCT00932932
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Children's Mercy Hospital Kansas City
Atopic Dermatitis (AD)
Study to Investigate the Safety, Tolerability, and Pharmacokinetics of GB-7624 in Healthy Adult Participants
This is a randomised, double-blinded, placebo-controlled first in human (FIH) trial to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and immunogenicity of GB-7624.
- Trial name
- NCT06920693
- Testing
- GB-7624
- Where
- Australia
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Generate Biomedicines