Clinical trials: Sex Chromosome Abnormalities
Fragile X Syndrome (FXS)
Novel Clinical Target in Fragile X Syndrome
Fragile X syndrome (FXS) is the most common genetic cause of autism spectrum disorder (ASD). The investigators wish to examine brain distribution of sigma-1 receptors in young adult males with FXS using 18F-FTC-146 PET.
- Trial name
- NCT04314856
- Testing
- 18F-FTC-146
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Guido A. Davidzon, MD, SM
Orofaciodigital Syndromes
Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene
The aim of this multicentre study will be to better describe the clinical characteristics and the etiological bases of patients with OFD syndrome by identifying new genes involved in OFD syndrome.
- Trial name
- OFD1 (NCT01962129)
- Testing
- Sampling of blood
- Where
- France
- Volunteers
- 133 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Fragile X Syndrome (FXS), Idiopathic Intellectual Developmental Disorder (IDD)
Neuroimaging GABA Physiology in Fragile X Syndrome
The investigators wish to compare the brain distribution of GABA(A) receptors and GABA levels in young adult males with Fragile X Syndrome compared to idiopathic intellectual developmental disorder.
- Trial name
- NCT04308954
- Testing
- [18F]flumazenil
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Stanford University
Klinefelter Syndrome
Fertility Assessment in Patients With Klinefelter Syndrome
Klinefelter syndrome is characterized by primary testicular failure and progressive infertility. The objective of this study is to determine if sperm are present and can be observed in semen samples of adolescent and young adult…
- Trial name
- NCT02461303
- Testing
- Counseling
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- University of Pittsburgh
Aortopathies, Thoracic Aortic Aneurysm
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by…
- Conditions
- Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease
- Trial name
- TAA (NCT03440697)
- Where
- 2 sites in United States
- Volunteers
- 3,000 people
- Sponsor
- Yale University