Clinical trials: Sex Chromosome Abnormalities
Fragile X Syndrome
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure.
- Trial name
- NCT06293027
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Fragile X Syndrome
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome
- Trial name
- NCT05358886
- Testing
- BPN14770/ zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 171 people
- Sponsor
- Tetra Discovery Partners
Growth Hormone Deficiency, Idiopathic Short Stature
Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature
This study evaluates long-term safety and effectiveness of Growtropin®-II treatment in children with short stature.
- Conditions
- Growth Hormone Deficiency, Idiopathic Short Stature, Turner Syndrome, Small for Gestational Age
- Trial name
- NCT04798690
- Where
- South Korea
- Volunteers
- 5,000 people
- Sponsor
- Dong-A ST Co., Ltd.
Fragile X Syndrome, Williams Syndrome
Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome
Fragile X Syndrome (FXS) and Williams-Beuren Syndrome (WBS) are relatively rare disorders characterized by developmental delay associated to socio-communicative deficit and autistic-like behaviours.
- Trial name
- NCT04610424
- Testing
- Cooperative Parent Mediated Therapy" (CPMT), As usual
- Where
- Italy
- Volunteers
- 14 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Congenital Webbing of Neck
Mehri Turki Surgical Technique of the Webbed Neck
The webbed neck is one of the conspicuous deformities of Turner syndrome that presents a surgical challenge. Despite the availability of surgical techniques, surgical outcomes are not always acceptable and recurrence occurs.
- Trial name
- NCT06446791
- Testing
- Mehri Turki Surgical Technique of the Webbed Neck
- Volunteers
- 5 people
- Sponsor
- Mohamed Tahar Maamouri University Hospital
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Turner Syndrome
Cardiopulmonary Exercise Testing in Girls (8-18y) with Turner Sydrome.
The goal of this clinical trial is to have a beter insight in the exercise tolerance in girls with Turner Syndrome aged 8-18 years .
- Trial name
- NCT06780514
- Testing
- Cardiopulmonary exercise test
- Where
- Belgium
- Volunteers
- 20 people
- Sponsor
- University Hospital, Ghent
Autism Spectrum Disorder, Fra(X) Syndrome
Establishing a Diagnostic and Therapeutic Index in Autism Spectrum Disorder (ASD) and Fragile X Syndrome
The purpose of this study is to accumulate and quantitatively analyze data on the microbiome, serotonin signaling and genetics, and inflammatory cytokines from patients with Autism Spectrum Disorder and Fragile X Syndrome.
- Trial name
- NCT04869930
- Testing
- specimen collection
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Nova Mentis Life Science Corp
Klinefelter Syndrome
Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
The study seeks primarily to determine whether modulation of systemic and testicular sex steroids balance by aromatase inhibitors will positively affect the metabolic health and spermatogenesis of men with Klinefelter syndrome…
- Trial name
- KLIN-HEALTH (NCT05586802)
- Testing
- Anastrozole, Semaglutide, human chorionic gonadotropin
- Where
- Switzerland
- Volunteers
- 150 people
- Sponsor
- Georgios Papadakis
Genetic Disorder, Turner Syndrome
Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of this trial is to assess whether increasing doses of somatropin (Norditropin®) can maintain the initial increase in height velocity and improve final height.
- Trial name
- NCT01518062
- Testing
- somatropin, oestrogen
- Where
- Netherlands
- Volunteers
- 65 people
- Sponsor
- Novo Nordisk A/S
Turner Syndrome, Peripheral Angiopathy
AVAST Anomalies Vasculaires Associées au Syndrome de Turner (Vascular Abnormalities Associated With Turner Syndrome)
Turner syndrome is a genetic condition, rare, due to the total or partial absence of one X chromosome, affecting 1/2500 newborn female. It combines almost constantly short stature and ovarian failure with infertility.
- Conditions
- Turner Syndrome, Peripheral Angiopathy, Vascular Malformation, Lymphedema
- Trial name
- AVAST (NCT02250456)
- Testing
- Echo doppler
- Where
- 6 sites in France
- Volunteers
- 72 people
- Sponsor
- University Hospital, Strasbourg, France
Genetic Disorder, Turner Syndrome
Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of the trial is to induce normal pubertal development in girls with Turner Syndrome in accordance with that of their peers and their individual state psychosocial maturation.
- Trial name
- NCT01710696
- Testing
- 17-beta estradiol
- Where
- 28 sites in Spain
- Volunteers
- 50 people
- Sponsor
- Novo Nordisk A/S
Klinefelter Syndrome, Hypogonadism
Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients.
- Trial name
- IZKF-CRA03-09 (NCT01703676)
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital Muenster
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
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG- Infant
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT06560242
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Turner Syndrome
Beta Cell Function in Women With Turner Syndrome
Diabetes is more frequent in women with Turner syndrome. The purpose of this study is to see, in what ways the glucose metabolism is different in this study population.
- Trial name
- NCT00419107
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Osteoporosis, Turner's Syndrome
Hormone Replacement Therapy to Treat Turner Syndrome
This study will evaluate the effects of hormone replacement therapy on patients with Turner syndrome (TS)-a genetic disorder in females in which part or all of one X chromosome is missing.
- Trial name
- NCT00013546
- Testing
- TMTDS
- Where
- United States
- Volunteers
- 92 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Fragile X Syndrome, Metformin
Metformin in Children With Fragile X Syndrome
This study is a controlled trial of metformin in children with fragile X syndrome(FXS). The age of FXS children range from 2 to 16 years old.
- Trial name
- NCT05120505
- Testing
- Metformin
- Where
- China
- Volunteers
- 37 people
- Sponsor
- Children's Hospital of Fudan University
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
Klinefelter Syndrome
Subcapsular Orchiectomy in Men With Klinefelter Syndrome
Men with Klinefelter syndrome undergo unilateral subcapsular ochiectomy, and the removed testicular tissue is examined for presence of sperm and cryopreserved in small pieces for fertility treatment and scientific purposes.
- Trial name
- NCT01750632
- Testing
- Orchiectomy
- Where
- Denmark
- Volunteers
- 14 people
- Sponsor
- Odense University Hospital