Clinical trials: Sex Chromosome Abnormalities
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome
To explore the efficacy, safety and tolerability of STX209 (arbaclofen) administered for the treatment of social withdrawal in adolescents and adults with fragile X syndrome (FXS)
- Trial name
- Harbor-A (NCT01282268)
- Testing
- arbaclofen
- Where
- 24 sites in United States
- Volunteers
- 125 people
- Sponsor
- Seaside Therapeutics, Inc.
Turner Syndrome
UTHealth Turner Syndrome Research Registry
The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS.
- Trial name
- NCT03185702
- Testing
- Research genetic tests
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- The University of Texas Health Science Center, Houston
Fragile X Syndrome (FXS)
A Study of OV101 in Individuals With Fragile X Syndrome
The purpose of this study is to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in subjects with Fragile X syndrome.
- Trial name
- ROCKET (NCT03697161)
- Testing
- OV101 (gaboxadol)
- Where
- 6 sites in United States
- Volunteers
- 36 people
- Sponsor
- Ovid Therapeutics Inc.
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
Fragile X Syndrome
Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS
ZYN002 is a pharmaceutically manufactured Cannabidiol that is developed as a clear gel that can be applied to the skin (called transdermal delivery).
- Trial name
- NCT03802799
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 26 sites in United States, Australia and 2 more
- Volunteers
- 476 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Klinefelter Syndrome
Adaptation Among Adolescents and Adults With Klinefelter Syndrome
This study aims to understand the impact of living with Klinefelter syndrome (KS) and the factors that contribute to adaptation in adolescents and adults.
- Trial name
- NCT00896272
- Where
- United States
- Volunteers
- 302 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Intellectual Disability, Fragile X Syndrome
Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
This study is a randomized, double-blind, placebo-controlled, crossover trial of extended-release liquid methylphenidate (XRMPH) to evaluate the sensitivity of the NIH Toolbox Cognition Battery (NIHTB-CB) to changes in cognition…
- Conditions
- Intellectual Disability, Fragile X Syndrome, Down Syndrome, Attention Deficit Hyperactivity Disorder
- Trial name
- NCT05301361
- Testing
- Methylphenidate Oral Solution
- Where
- 3 sites in United States
- Volunteers
- 68 people
- Sponsor
- University of California, Davis
Turner Syndrome, Primary Ovarian Insufficiency (Poi)
Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome
This is a single-site open label non-randomized study comparing effects of sequential versus continuous use of progesterone supplementation amongst Turner Syndrome (TS) patients with primary ovarian insufficiency (POI) prescribed…
- Trial name
- BOOST (NCT06834594)
- Testing
- Micronized progesterone 200 MG, Micronized Progesterone 100 MG
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Turner Syndrome
Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?
Liver abnormalities are common in Turner syndrome. The physiopathology of these abnormalities is unknown for the moment but their potentially serious evolution requires additional explorations.
- Trial name
- NCT05473091
- Testing
- no intervention
- Where
- France
- Volunteers
- 179 people
- Sponsor
- Central Hospital, Nancy, France
Healthy, Fragile X Syndrome
Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women
The purpose of the study is to understand how the ovarian follicle (the fluid filled structure in the ovary that contains the egg) makes estrogen and other hormones during normal aging, in women with different ethnic backgrounds…
- Trial name
- NCT00334971
- Testing
- Follicle Aspiration
- Where
- United States
- Volunteers
- 116 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
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
Turner Syndrome, Hypogonadism; Ovarian
Long Term Effects of Oral Versus Transdermal Estrogen Replacement Therapy in Turner Syndrome
This 14-month, phase IV, randomized controlled crossover trial aims to compare the effects of oral versus transdermal estrogen replacement therapy (ERT) in women with Turner syndrome (TS).
- Conditions
- Turner Syndrome, Hypogonadism; Ovarian, Hormone Replacement Therapy, Estrogen Replacement Therapy
- Trial name
- NCT06570460
- Testing
- 17-beta estradiol
- Where
- Denmark
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Aarhus University Hospital
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Oro-Facial-Digital Syndrome
Mindfulness and Education in Patients With Non-oncological Orofacial Pain
To analyze the effects of a program based on Mindfulness plus Pain Neurophysiology Education versus a program based on Pain Neurophysiology Education on perceived quality of life, pain, sleep quality, and functionality, in adult…
- Trial name
- NCT05732753
- Testing
- Mindfulness + Education in Neurophysiology of pain
- Where
- Spain
- Volunteers
- 60 people
- Sponsor
- University of Jaén
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
Turner Syndrome
Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome
Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality.
- Trial name
- Turner-Ylc (NCT06202846)
- Testing
- cfDNA analysis
- Where
- 2 sites in France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Strasbourg, France
Turner Syndrome
The Effect of Growth Hormone in Very Young Girls With Turner Syndrome
This study investigated the effect of growth hormone on the growth of infants and toddlers with Turner syndrome during 2 years of treatment with growth hormone.
- Trial name
- NCT00406926
- Testing
- Somatropin
- Where
- 10 sites in United States
- Volunteers
- 100 people
- Sponsor
- Eli Lilly and Company
Turner Syndrome, Bicuspid Aortic Valve
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
The study aim is: 1. To examine aortic tissue by light microscopy 2. To examine aortic tissue by electron microscopy 3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue. 4.
- Conditions
- Turner Syndrome, Bicuspid Aortic Valve, Marfan Syndrome
- Trial name
- NCT01760668
- Where
- Denmark
- Volunteers
- 5 people
- Sponsor
- University of Aarhus
Turner Syndrome
Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome
Turner Syndrome (TS) is associated with osteopenia and osteoporosis. Reduced bone mineral density (BMD) and increased risk of fractures are present in many younger and middle-aged women with TS.
- Trial name
- NCT00625001
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- University of Aarhus