Clinical trials: Mosaicism
Influenza
Mechanisms of Severe Acute Influenza Consortium (MOSAIC)
The ultimate goal of this collaborative, intensive study is to discover new and effective treatments and to develop better vaccines that can be used in future outbreaks of Influenza A.
- Trial name
- MOSAIC (NCT00965354)
- Where
- 8 sites in United Kingdom
- Volunteers
- 131 people
- Sponsor
- Imperial College London
Developmental Disorders
Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools
1. Inclusion of 5 families Inclusions will be made by the clinical genetics department of the Rouen University Hospital (monocentric study) and will correspond to trios of parents + child with unexplained developmental…
- Trial name
- RRMUT (NCT04564235)
- Testing
- genome-wide analyses, Search for de novo mutations in paternal sperm samples
- Where
- France
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- University Hospital, Rouen
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome
Study of Miransertib (MK-7075) in Participants With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC) (MK-7075-002)
This is an open label, Phase 1/2 study of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (PIK3CA)-related Overgrowth…
- Trial name
- MOSAIC (NCT03094832)
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 2 more
- Volunteers
- 50 people
- Sponsor
- ArQule, Inc., a subsidiary of Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc. (Rahway, NJ USA)
Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY
Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome
This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight…
- Conditions
- Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY, Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X, Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)
- Trial name
- NCT03181230
- Testing
- No intervention
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Colorado, Denver
Pediatric Central Nervous System Tumor, Central Nervous System Tumor
Somatic Mosaicism in Twins Discordant for Childhood Cancer
Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date.
- Conditions
- Pediatric Central Nervous System Tumor, Central Nervous System Tumor, Discordant Twin, Somatic Mutation
- Trial name
- NCT06054295
- Testing
- Biospecimen collection, Questionnaire Administration
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Children's Oncology Group
Epilepsy Intractable, Epilepsy in Children
The Mosaic Brain: a New Diagnostic Approach in Focal Epilepsies
Overall, this observational cohort study aims to: 1. Improve our understanding of the genetic architecture of childhood focal epilepsies. 2.
- Trial name
- NCT06602570
- Volunteers
- 40 people
- Sponsor
- Institute of Child Health
Focal Cortical Dysplasia, Epilepsy
Mos-FED (Mosaicism in Focal Epilepsy Cortical Dysplasia Tissue)
Focal cortical dysplasia (FCD) is a malformation of brain development, the most common cause of drug-resistant epilepsy and often caused by mutations in mammalian target of rapamycin (mTOR) pathway genes.
- Trial name
- MosFED (NCT06053671)
- Testing
- Blood and nasal swab sampling
- Where
- United Kingdom
- Volunteers
- 60 people
- Sponsor
- King's College Hospital NHS Trust
Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy
Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy
Mosaic sex chromosome aneuploidy 47,XXY/46,XX is an exceptionally rare variant within the spectrum of Klinefelter syndrome. Available data remain limited, especially regarding adult phenotype and long-term characteristics, and no…
- Conditions
- Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy, Disorders of Sex Development (DSD), Sex Chromosome Disorders
- Trial name
- MOSAI-XX (NCT07885163)
- Where
- France
- Volunteers
- 257 people
- Sponsor
- Université Paris-Saclay
Klinefelter Syndrome
Fertility Preservation in Cases of Klinefelter Syndrome.
Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism.
- Trial name
- FERTIPRESERVE (NCT01918280)
- Testing
- Seminal analyses and testicular biopsy
- Where
- 4 sites in France
- Volunteers
- 141 people
- Sponsor
- Hospices Civils de Lyon
Proteus Syndrome
MK-7075 (Miransertib) in Proteus Syndrome
Background: Proteus syndrome is a rare overgrowth disorder. Most people begin to have symptoms between 6 months and 2 years of age. There are very few living adults with this disease. There is also no known treatment for it.
- Trial name
- NCT04316546
- Testing
- MK-7075 (miransertib)
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Aortic Valve Replacement, Coronary Artery Bypass Grafting
Hemodynamic Assessment of Mosaic Ultra Stented Heart Valve in the Aortic Position
The special fixation methodology of the Mosaic Ultra stented procine bioprosthesis allows valves to maintain their natural leaflet structure and root geometry which prevents leaflet calcification and improves hemodynamic…
- Trial name
- NCT00477555
- Testing
- Aortic implantation of Mosaic Ultra porcine bioprosthesis
- Where
- 11 sites in Austria, Belgium and 3 more
- Volunteers
- 43 people
- Sponsor
- Medtronic Cardiac Rhythm and Heart Failure
Pigment Dispersion, Mosaicism
Characterize Metzker Pigmentary Disorders
Metzker pigmentary disorders are frequent cause of consultation in pediatric dermatology. The investigators can describe 4 patterns.
- Trial name
- NCT04966533
- Where
- France
- Volunteers
- 74 people
- Sponsor
- University Hospital, Montpellier
Aortic Valve Stenosis and/or Insufficiency, Mitral Valve Stenosis and/or Insufficiency
Post-Approval Study for the MOSAIC® Bioprostheses
A Single Center Non-Interventional Post-Market Release, Long Term Follow Up study of patients who underwent Isolated Aortic Valve Replacement or Isolated Mitral Valve Replacement with a Medtronic Mosaic Bioprosthesis.
- Trial name
- NCT01574625
- Where
- Germany
- Volunteers
- 177 people
- Sponsor
- Medtronic Cardiac Rhythm and Heart Failure
PIK3CA-Related Overgrowth Spectrum (PROS)/Proteus Syndrome (PS)
A Study of the Safety and Tolerability in Participants With PIK3CA-related Overgrowth Spectrum or Proteus Syndrome Who Are Being Treated With Miransertib (MK-7075) in Other Studies (MK-7075-006)
This is a study of the safety and tolerability of oral miransertib (MK-7075) administered to participants at least 2 years of age with phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related…
- Trial name
- NCT04980872
- Testing
- Miransertib
- Where
- 11 sites in United States, Australia and 3 more
- Volunteers
- 60 people
- Sponsor
- Merck Sharp & Dohme LLC
Li-Fraumeni Syndrome, TP53 Gene Mutation
Li-Fraumeni & TP53 (LiFT UP): Understanding and Progress
The purpose of this research study is to learn more about variants in the TP53 gene both associated with Li-Fraumeni Syndrome (LFS), a hereditary cancer risk condition, and TP53 variants found in the blood for other reasons (e.g.
- Conditions
- Li-Fraumeni Syndrome, TP53 Gene Mutation, Hereditary Cancer Syndrome, Clonal Hematopoiesis
- Trial name
- LiFT_UP (NCT04541654)
- Testing
- Data and Specimen Collection
- Where
- 3 sites in United States
- Volunteers
- 1,500 people
- Sponsor
- Dana-Farber Cancer Institute
Proteus Syndrome, PIK3CA Related Overgrowth Spectrum
Study of Proteus Syndrome and Related Congenital Disorders
This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty…
- Trial name
- NCT00001403
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Nomophobia, Puzzle Activity
The Effect of Mosaic Puzzle Game on Nomophobia in Adolescents
This study aims to investigate the effect of mosaic puzzle application on nomophobia in middle school children aged 12-14. The data for the study will be collected over a 5-week period.
- Conditions
- Nomophobia, Puzzle Activity, Child, Dependence
- Trial name
- NCT07097610
- Testing
- Mosaic Puzzle Intervention
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Rabia Nur TEKİ KESKİN
Malformations With Skin Manifestations Suggesting Mosaicism
Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.
The principal result expected is the discovery of inframicroscopic chromosomal rearrangements in regions of the genome not yet known to be involved, or mutations in known candidate genes; The identification of such a mosaic…
- Trial name
- MOSAÏQUE (NCT01950975)
- Testing
- Peripheral blood samples in EDTA tubes, Skin biopsies
- Where
- France
- Volunteers
- 315 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Centronuclear Myopathy
Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
Twenty patients with centronuclear myopathy and twenty age- and sex-matched, muscle-healthy controls will undergo diagnostic examination.
- Trial name
- MOSAIC (NCT07021820)
- Testing
- MSOT
- Where
- Germany
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
Klinefelter Syndrome, Trisomy X
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early…
- Conditions
- Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome
- Trial name
- NCT03396562
- Testing
- Assessments of Development and Growth
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of Colorado, Denver