Clinical trials: Sex Chromosome Abnormalities
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
Fragile X Syndrome
Study of MRM-3379 in Male Participants With Fragile X Syndrome (BLOOM)
This study is a multicenter, double-blind, randomized, placebo-controlled study to assess the safety and tolerability of 3 doses of MRM-3379 in male participants with Fragile X Syndrome ages 16 to 45 (inclusive).
- Trial name
- NCT07209462
- Testing
- Low dose of MRM-3379, Middle Dose of MRM-3379, High dose of MRM-3379
- Where
- 18 sites in United States, Spain
- Volunteers
- 60 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
Fragile X Syndrome
Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome
There will be four study periods: Screening (up to 14 days in length), the Treatment Period (8 weeks), the Withdrawal Period (22 days), and Follow-up Period (up to 31 days).
- Trial name
- Harbor-C (NCT01325220)
- Testing
- arbaclofen
- Where
- 28 sites in United States
- Volunteers
- 172 people
- Sponsor
- Seaside Therapeutics, Inc.
Fragile X Syndrome
Safety and Efficacy of AFQ056 in Adult Patients With Fragile X Syndrome
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
- Trial name
- NCT01253629
- Testing
- AFQ056
- Where
- 31 sites in United States, Australia and 8 more
- Volunteers
- 175 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
Turner's Syndrome, Human Growth Hormone Deficiency
Evaluation of Overall Compliance and Duration of Zomacton® Treatment With the Zomajet® Needle-free Device
The purpose of this strictly observational, prospective, longitudinal study is to evaluate with sufficient precision the rate of overall treatment compliance from one year to 3 years of follow-up of the patients.
- Trial name
- ZOMAJET (NCT01306357)
- Testing
- Somatropin
- Where
- 17 sites in France
- Volunteers
- 87 people
- Sponsor
- Ferring Pharmaceuticals
Fragile X Syndrome
Long-term, Safety, Tolerability and Efficacy Study of AFQ056 in Adult Patients With Fragile X Syndrome
The purpose of this study is to generate long-term safety, tolerability and efficacy data for AFQ056 in eligible adult patients with FXS who have participated in the CAFQ056A2212 (NCT01253629).study and patients who have…
- Trial name
- NCT01348087
- Testing
- AFQ056
- Where
- 28 sites in United States, Australia and 8 more
- Volunteers
- 148 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome
An Open-Label Extension Study of BPN14770 in Subjects With Fragile X Syndrome
This is a 4-year, open-label extension (OLE) study for subjects completing one of two double-blind clinical trials with BPN14770, Study BPN14770-CNS-301 (in adult males) and Study BPN14770-CNS-204 (in adolescent males).
- Trial name
- NCT05367960
- Testing
- Zatolmilast/ BPN14770
- Where
- 17 sites in United States
- Volunteers
- 314 people
- Sponsor
- Tetra Discovery Partners
Fragile X Syndrome
Clinical Study to Assess the Pharmacokinetics, Safety and Tolerability of Single and Multiple Oral Doses of AFQ056 in Children With Fragile X Syndrome (FXS)
The aim of this study is to characterize the pharmacokinetics and safety/tolerability of AFQ056 in children with Fragile X Syndrome(FXS)
- Trial name
- NCT01482143
- Testing
- AFQ056
- Where
- 4 sites in United States, Spain
- Volunteers
- 21 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome
Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22001 will be offered participation in 22001A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00823368
- Testing
- STX209
- Where
- 11 sites in United States
- Sponsor
- Seaside Therapeutics, Inc.
Aggressive Behavior in Fragile X Syndome
Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome
The goal of this clinical trial is to learn if drug SRX246 works to treat irritability, agitation, aggression and self-injury (IAAS) behaviors in adult males with Fragile X Syndrome (FXS).
- Trial name
- NCT07328529
- Testing
- SRX246
- Where
- 3 sites in United States
- Volunteers
- 80 people
- Sponsor
- Azevan Pharmaceuticals
Turner Syndrome
A Trial to Investigate Different Doses of Lonapegsomatropin Compared to Somatropin in Individuals With Turner Syndrome
A 104 week dose finding open label trial followed by an optional 78 week open label extension of lonapegsomatropin, a long-acting growth hormone product, administered once-a-week versus daily somatropin product in prepubertal…
- Trial name
- NCT05690386
- Testing
- Lonapegsomatropin, Somatropin
- Where
- 19 sites in United States
- Volunteers
- 48 people
- Sponsor
- Ascendis Pharma Endocrinology Division A/S
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
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency
This trial is conducted in Asia. The aim of this trial is to evaluate the new liquid somatropin formulation in children with growth hormone deficiency.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Genetic Disorder, Turner Syndrome
- Trial name
- NCT01563926
- Testing
- somatropin
- Where
- 6 sites in Israel
- Volunteers
- 168 people
- Sponsor
- Novo Nordisk A/S
Trisomy 13, Trisomy 18
High Risk Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our proprietary algorithm method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample.
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
- Trial name
- NCT02278874
- Where
- 4 sites in United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
SGA, Turner Syndrome
A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9
The purpose of this study is to find out if somapacitan is safe and how well somapacitan works in children either born small for gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature.
- Conditions
- SGA, Turner Syndrome, Noonan Syndrome, ISS
- Trial name
- REAL 9 (NCT05723835)
- Testing
- Somapacitan
- Where
- 18 sites in United States, Malaysia and 4 more
- Volunteers
- 47 people
- Sponsor
- Novo Nordisk A/S
Fragile X Syndrome
Open Label Study Investigating Safety and Efficacy of NPL2009 50 mg - 150 mg on Prepulse Inhibition Tests and Continuous Performance Tasks, Adults With Fragile X Syndrome
This is an open label exploratory study to investigate the safety and effects of a single dose of NPL-2009(50 mg - 150 mg) on Prepulse Inhibition (PPI) Tests and Continuous Performance Tasks (CPT) in adults with Fragile X Syndrome
- Trial name
- NCT00637221
- Testing
- NPL-2009
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Neuropharm
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
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