Clinical trials: Sex Chromosome Disorders
Fragile X Syndrome, Autism Spectrum Disorder
Alpha Auditory Entrainment for Cognitive Enhancement and Sensory Hypersensitivity in Youth With Developmental Disorders
Fragile X Syndrome (FXS) is a complex neurodevelopmental disorder caused by a mutation on the X chromosome. Scientists have investigated FXS extensively in both humans and animals.
- Conditions
- Fragile X Syndrome, Autism Spectrum Disorder, Autistic Disorder, Asperger Syndrome
- Trial name
- ENTRAIN (NCT06227780)
- Testing
- Alpha Auditory Entrainment
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fragile X Syndrome (FXS), Autism Spectrum Disorder
Group CBT in Adolescents With Fragile X Syndrome and in Adolescents With Autism Spectrum Disorder
Fragile X Syndrome (FXS) is a rare genetic syndrome, caused by a mutation in the FMR1 gene located on the X chromosome. It is considered the leading hereditary cause of intellectual disability (ID) and the primary cause of Autism…
- Trial name
- NCT06677866
- Testing
- Cognitive behavioral therapy, Waiting List
- Where
- Italy
- Volunteers
- 20 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Turner Syndrome
Somatropin Treatment to Final Height in Turner Syndrome
A randomized, controlled trial in girls with Turner syndrome at least 7 years old and younger than 13 at study entry, to determine the efficacy and safety of Humatrope (somatropin) treatment in promoting linear growth to final…
- Trial name
- GDCT (NCT00191113)
- Testing
- Somatropin, Ethinyl estradiol, Medroxyprogesterone acetate
- Where
- 14 sites in Canada
- Volunteers
- 154 people
- Sponsor
- Eli Lilly and Company
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Turner Syndrome
Effects of Adrenal Androgens on Gender-typed Behavior in Girls With Turner Syndrome
Turner syndrome (TS) is a genetic disorder in which there is loss of all or part of the second X chromosome and occurs in 1/2500 live female births.
- Trial name
- NCT05346159
- Testing
- the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS
- Where
- Egypt
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Sohag University
Idiopathic Growth Hormone Deficiency, Turner Syndrome
First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study
PREDICT Validation is a validation pharmacogenetic trial. The purpose of this study is to confirm that some genes can be used to predict how well a subject diagnosed with idiopathic growth hormone deficiency (IGHD) or turner…
- Trial name
- NCT01419249
- Testing
- Blood sampling
- Where
- 31 sites in Argentina, Canada and 7 more
- Volunteers
- 458 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
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
Autism, Autism Spectrum Disorder
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.
- Conditions
- Autism, Autism Spectrum Disorder, Autistic Disorder, Autism, Akinetic
- Trial name
- NCT04100863
- Testing
- No Intervention
- Where
- United States
- Sponsor
- ProgenaBiome
Fragile X Syndrome, Fragile X Syndrome (FXS)
Clinical Study of Cannabidiol in Children, Adolescents, and Young Adults With Fragile X Syndrome
This is a randomized, double-blind, placebo-controlled, multiple-center study, to assess the efficacy and safety of cannabidiol administered as ZYN002 for the treatment of children, adolescent, and young adult patients with…
- Trial name
- RECONNECT (NCT04977986)
- Testing
- ZYN002
- Where
- 27 sites in United States, Australia and 3 more
- Volunteers
- 257 people
- Sponsor
- Harmony Biosciences Management, Inc.
Fragile X Syndrome
Trial of Sertraline to Treat Children With Fragile X Syndrome
This study is a control trial of sertraline (Zoloft) in fragile X syndrome children aged 2 years to 5 years 8 months old. The trial is six months long, and each participant will receive a series of tests at both the beginning and…
- Trial name
- NCT01474746
- Testing
- Sertraline
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Randi J. Hagerman, MD
Turner's Syndrome
An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG
Children with growth failure due to inadequate secretion of growth hormone or growth retardation due to Turner's syndrome are individually dosed and treated for 12 weeks
- Trial name
- NCT00250250
- Testing
- ZOMACTON
- Where
- 6 sites in Czechia, France and 1 more
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Ferring Pharmaceuticals
Fragile X Syndrome
A Study of RO4917523 in Patients With Fragile X Syndrome
This multi-center, randomized, double-blind, placebo-controlled, parallel-group study will investigate the efficacy and safety of RO4917523 in adolescent and adult patients with fragile X syndrome.
- Trial name
- NCT01517698
- Testing
- RO4917523 0.5 mg, RO4917523 1.5 mg
- Where
- 51 sites in United States, Argentina and 8 more
- Volunteers
- 185 people
- Sponsor
- Hoffmann-La Roche
Marfan Syndrome, Turner Syndrome
National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) was initiated in 2006 by the National Heart, Lung, and Blood Institute (NHLBI) and the National Institute of…
- Conditions
- Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome
- Trial name
- GenTAC (NCT01322165)
- Where
- 7 sites in United States
- Volunteers
- 3,706 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Turner Syndrome, Short Stature
D3-GHR Polymorphism and Turner Syndrome
The protein polymorphism of the growth hormone receptor characterized by the genomic deletion of exon 3 has been linked to the magnitude of the first-year-growth response to growth hormone (GH) in girls with Turner syndrome.
- Trial name
- NCT00443144
- Testing
- recombinant human growth hormone
- Where
- Germany
- Sponsor
- University Hospital Tuebingen
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Safety and Efficacy of Long-term Somatropin Treatment in Children
This study is conducted in Europe. The aim of this study is to evaluate safety during the long-term use of somatropin (Norditropin®) in children as well as efficacy on change in height.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Foetal Growth Problem, Small for Gestational Age
- Trial name
- GrowthWIN II (NCT01543867)
- Testing
- somatropin
- Where
- Germany
- Volunteers
- 5,442 people
- Sponsor
- Novo Nordisk A/S
Klinefelter Syndrome
Klinefelter Syndrome and Testosterone Treatment in Puberty
The goal of this randomized clinical trial is to study the effect of testosterone replacement therapy during puberty in boys with Klinefelter syndrome (KS, 47,XXY).
- Trial name
- TiPY (NCT06294990)
- Testing
- Testosterone gel
- Where
- Denmark
- Volunteers
- 32 people
- Sponsor
- Lise Aksglæde