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
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
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
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
Klinefelter Syndrome
Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
This study will learn more about how the body uses energy. Usually, the body uses sugars as energy first and then fats are used when the sugar stores are gone. Some people have trouble using fats as energy.
- Trial name
- NCT05498090
- Testing
- Fenofibrate 145 mg
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age
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
- NCT05957549
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Hypothalamic Obesity, Prader-Willi Syndrome
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment
- Conditions
- Hypothalamic Obesity, Prader-Willi Syndrome, PWS
- Trial name
- NCT06239116
- Testing
- Part C: RM-718, Part D: RM-718
- Where
- 7 sites in United States
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Turner's Syndrome
Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome
RATIONALE: Turner's syndrome is a disease in which females are missing all or part of one X chromosome and do not produce estrogen. Giving estrogen is standard treatment for girls who have Turner's syndrome.
- Trial name
- NCT00004274
- Testing
- Estrogen
- Where
- United States
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
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
Turner's Syndrome
Turner Syndrome: Genotype and Phenotype
This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. Humans usually have 23 pairs of chromosomes-thin strands of DNA-in the nucleus of every cell, which contain genes…
- Trial name
- NCT00006334
- Where
- United States
- Volunteers
- 1,017 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Turner Syndrome, Infertility, Female
Turner Syndrome Minipuberty Study
Rationale: Due to accelerated germ cell loss, infertility is a major problem in girls with Turner syndrome (TS). Therefore, cryopreservation of ovarian tissue or oocytes before exhaustion of the ovarian reserve may preserve…
- Conditions
- Turner Syndrome, Infertility, Female, Premature Ovarian Failure, Gonadal Dysgenesis
- Trial name
- Minipuberty (NCT04189406)
- Testing
- Venapunction
- Where
- 13 sites in Denmark, Germany and 3 more
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Turner Syndrome
Sex Differences in Early Brain Development; Brain Development in Turner Syndrome
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males…
- Trial name
- NCT00877942
- Where
- United States
- Volunteers
- 295 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Gonadal Dysgenesis, Turner's Syndrome
The Effects of Estrogen on Cognition in Girls With Turner Syndrome
The development of the brain in females is a result of a combination of factors. During puberty estrogen plays a role in influencing brain development.
- Trial name
- NCT00001253
- Testing
- cognitive tests and scales
- Where
- United States
- Volunteers
- 950 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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
Down Syndrome, Intellectual Disability
Parents as the Primary Sexuality Educators for Their Young Adults With Down Syndrome
By integrating sexuality and disability literatures, theories, and research methodologies, this study aims to: 1) contribute to the limited knowledge professionals have of parents as the primary sexuality educators; 2) create a…
- Conditions
- Down Syndrome, Intellectual Disability, Sexuality, Parent-Child Relations
- Trial name
- NCT03135236
- Testing
- Parent training
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Fertility Disorders, Turner Syndrome
The Danish TURNER Cryopreservation Study
The goal of this clinical trial is to investigate if cryopreservation of ovarian tissue in girls with Turner syndrome can improve their fertility and lead to increased number of liveborn babies of Turner syndrome mothers.
- Conditions
- Fertility Disorders, Turner Syndrome, Premature Ovarian Failure
- Trial name
- DANTE (NCT05740579)
- Testing
- laparoscopic cryopreservation of one ovary
- Where
- Denmark
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Child Behavior
Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts
'PREDICTORS' (Parents Resources for Decreasing the Incidence of Change Triggered Temper Outbursts) aims to evaluate web-based training packages for caregivers of children who show frequent temper outbursts following changes to…
- Trial name
- PREDICTORS (NCT02567357)
- Testing
- Visual Scheduling, signalling change
- Where
- United Kingdom
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Queen's University, Belfast
Fragile X Syndrome
Study of Acamprosate in Fragile x Syndrome
In this research study we want to understand the effectiveness of a drug treatment, acamprosate, for interfering symptoms (i.e., inattention/hyperactivity, social impairment) associated with Fragile X Syndrome (FXS).
- Trial name
- NCT01911455
- Testing
- acamprosate
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati