Clinical trials: Sex Chromosome Abnormalities
- Condition Sex Chromosome Abnormalities
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
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
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.
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
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.
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
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
SGA, Turner Syndrome, Noonan Syndrome, ISS
A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow
The study compares two medicines for treatment of children born small and who stay small, or with Turner Syndrome, Noonan Syndrome, or idiopathic short stature.
- Trial name
- REAL 8 (NCT05330325)
- Testing
- Somapacitan, Norditropin®
- Where
- 199 sites in United States, Austria and 31 more
- Volunteers
- 412 people
- Sponsor
- Novo Nordisk A/S
Fragile X Syndrome
Safety, Tolerability and Efficacy Study of STX209 in Subjects With Fragile X Syndrome
The study objective is to explore the efficacy, safety and tolerability of STX209 for treatment of irritability in subjects with FSX.
- Trial name
- NCT00788073
- Testing
- STX209
- Where
- 12 sites in United States
- Volunteers
- 63 people
- Sponsor
- Seaside Therapeutics, Inc.
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.
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.
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
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.
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
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
Fragile X Syndrome
Biomarker and DNA Collection in Subjects Participating in Protocol 22003
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22003 will be offered participation in 22003A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00892580
- Testing
- STX209
- Where
- 8 sites in United States
- Volunteers
- 32 people
- Sponsor
- Seaside Therapeutics, Inc.
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
Genetic Disorder, Turner Syndrome
Growth Response in Girls With Turner Syndrome
This trial is conducted in Europe. The aim of the trial is to evaluate growth response of two somatropin dose regimens in girls with Turner Syndrome.
- Trial name
- NCT01734486
- Testing
- somatropin
- Where
- 15 sites in France
- Volunteers
- 31 people
- Sponsor
- Novo Nordisk A/S
Growth Hormone Deficiency, Turner Syndrome
Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN®
The study aims at identifying the predictive markers after one month of Saizen therapy in Growth Hormone Deficiency (GHD) and Turner Syndrome children.
- Trial name
- NCT00256126
- Testing
- Saizen
- Where
- 13 sites in Argentina, Australia and 11 more
- Volunteers
- 318 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Fragile X Syndrome
An Open Label Extension Study of STX209 in Subjects With Fragile X Syndrome
Study 22001, "A Double-Blind, Placebo-Controlled, Flexible-Dose Evaluation of the Efficacy, Safety, and Tolerability of STX209 in the Treatment of Irritability in Subjects with Fragile X Syndrome" currently is evaluating the…
- Trial name
- NCT01013480
- Testing
- Arbaclofen
- Where
- 9 sites in United States
- Volunteers
- 45 people
- Sponsor
- Seaside Therapeutics, Inc.