Clinical trials: Chromosome Disorders
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.
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.
Chronic Myeloid Leukemia, Ph+ Acute Lymphoblastic Leukemia
Ponatinib for Chronic Myeloid Leukemia (CML) Evaluation and Ph+ Acute Lymphoblastic Leukemia (ALL)
The purpose of this study is to determine the efficacy of ponatinib in patients with chronic myeloid leukemia (CML) in chronic phase (CP), accelerated phase (AP) or blast phase (BP) or with philadelphia chromosome-positive (Ph+)…
- Trial name
- PACE (NCT01207440)
- Testing
- Ponatinib
- Where
- 42 sites in Australia, Belgium and 9 more
- Volunteers
- 449 people
- Sponsor
- Ariad Pharmaceuticals
Urothelial Carcinoma
Study of Mocetinostat in Patients With Urothelial Carcinoma Having Inactivating Alterations of Specific Genes
Mocetinostat is an orally administered histone deacetylase (HDAC) inhibitor. This study is a Phase 2 trial evaluating the efficacy of mocetinostat in patients that have advanced urothelial carcinoma that has specific changes in…
- Trial name
- NCT02236195
- Testing
- Mocetinostat
- Where
- 14 sites in United States
- Volunteers
- 17 people
- Sponsor
- Mirati Therapeutics Inc.
Angelman Syndrome
Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)
The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with deletion-type Angelman Syndrome (AS).
- Trial name
- Aspire (NCT06617429)
- Testing
- GTX-102
- Where
- 28 sites in United States, Canada and 4 more
- Volunteers
- 129 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy
Non-invasive Prenatal Diagnostic Validation Study
The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.
- Conditions
- Chromosome 13 Aneuploidy, Chromosome 18 Aneuploidy, Chromosome 21 Aneuploidy, Sex Chromosome Aberrations
- Trial name
- NIPD (NCT01574781)
- Testing
- Blood draw, Cheek swab/Saliva Sampling
- Where
- United States
- Volunteers
- 1,781 people, healthy volunteers welcome
- Sponsor
- Natera, 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
Trisomy 21
Paternal Age and Fetal Aneuploidy
Trisomy 21, commonly known as down syndrome, is the most common chromosomal abnormality in humans. Advanced maternal age (AMA) is a well-recognized risk factor for trisomy 21, with the risk increasing significantly beyond the age…
- Trial name
- NCT05981521
- Testing
- Optimo prenatal screening test
- Where
- Canada
- Volunteers
- 7,141 people
- Sponsor
- Clinique Ovo
Chronic Myeloid Leukemia (CML)
Effect of Imatinib Mesylate and the Pharmacokinetics of Acetaminophen/Paracetamol in Patients With Newly Diagnosed, Previously Untreated Chronic Myeloid Leukemia in Chronic Phase (CML-CP)
A non-randomized, open-label study to investigate the effects of imatinib mesylate on the pharmacokinetics of acetaminophen/paracetamol in patients with newly diagnosed, previously untreated chronic myeloid leukemia in chronic…
- Trial name
- NCT00428909
- Testing
- Imatinib/Acetaminophen
- Where
- South Korea
- Volunteers
- 12 people
- Sponsor
- Novartis Pharmaceuticals
Chronic Myeloid Leukemia, Chronic Phase, CML, Chronic Phase
A Phase 3 Study for the Efficacy and Safety of Radotinib in CP-CML Patients With Failure or Intolerance to Previous TKIs
In a multinational, multicenter, single-arm, open-label and Phase III Radotinib clinical study, chronic phase Ph+ chronic myeloid leukemia patients with failure or intolerance to previous TKIs therapy including Imatinib will be…
- Conditions
- Chronic Myeloid Leukemia, Chronic Phase, CML, Chronic Phase, CML, Refractory, CML - Philadelphia Chromosome
- Trial name
- NCT03459534
- Testing
- Radotinib HCl
- Where
- 18 sites in Russia, South Korea and 2 more
- Volunteers
- 173 people
- Sponsor
- Il-Yang Pharm. Co., Ltd.
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.
Prader-Willi Syndrome
A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone Injection in Patients With Prader-Willi Syndrome
To evaluate the effectiveness of rhGH (Recombinant human growth hormone) injection for improving motor development in patients with PWS.
- Trial name
- NCT03554031
- Testing
- Recombinant Human Growth Hormone (rhGH) Injection
- Where
- 6 sites in China
- Volunteers
- 30 people
- Sponsor
- Changchun GeneScience Pharmaceutical Co., Ltd.
Angelman Syndrome
A Study of the Safety and Tolerability of GTX-102 in Children With Angelman Syndrome
The primary objective of the study is to evaluate the safety and tolerability of multiple-ascending doses of GTX-102 administered by intrathecal (IT) injection to participants with Angelman Syndrome (AS).
- Trial name
- NCT04259281
- Testing
- GTX-102
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 74 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
Chronic Myeloid Leukemia, Acute Lymphoblastic Leukemia
A Pharmacokinetic (PK) Study of Nilotinib in Pediatric Patients With Philadelphia Chromosome-positive (Ph+) Chronic Myelogenous Leukemia (CML) or Acute Lymphoblastic Leukemia (ALL)
This study will assess the pharmacokinetics of nilotinib in Ph+ CML pediatric patients that are newly diagnosed or resistant or intolerant to imatinib or dasatinib or refractory or relapsed Ph+ ALL compared to the adult…
- Trial name
- NCT01077544
- Testing
- Nilotinib
- Where
- 12 sites in France, Italy and 2 more
- Volunteers
- 15 people
- Sponsor
- Novartis Pharmaceuticals
Trisomy 13, Trisomy 18
Multiple Gestation Study
The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic 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
- NCT02278536
- Where
- 8 sites in United States, India and 1 more
- Volunteers
- 354 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Chronic Myeloid Leukemia, Philadelphia Chromosome
Study of Chinese Newly Diagnosed Participants With Philadelphia Chromosome-Positive (Ph+) Chronic Myeloid Leukemia in Chronic Phase (CML-CP)
Observational medical record review of newly diagnosed CML-CP participants in China
- Conditions
- Chronic Myeloid Leukemia, Philadelphia Chromosome, Chronic Myeloid Leukemia in Chronic Phase
- Trial name
- NCT03509896
- Testing
- Non-Interventional
- Where
- China
- Volunteers
- 463 people
- Sponsor
- Bristol-Myers Squibb
Down Syndrome (Trisomy 21)
AEF0217 in Participants With Down Syndrome
The goal of this clinical trial is to identify if AEF0217 show an improvement in adaptive behaviors (daily life activities) in adults and older adolescents with Down Syndrome. It will also learn about the safety of AEF0217.
- Trial name
- NCT07334912
- Testing
- AEF0217 100 µg, AEF0217 300 µg
- Where
- 10 sites in France, Italy and 1 more
- Volunteers
- 188 people
- Sponsor
- Aelis Farma
Leukemia
Chronic Myelogenous Leukemia or Philadelphia Chromosome Positive Acute Lymphoblastic Leukemic Study
To determine the long term safety and tolerability of dasatinib exposure in subjects previously treated in CA180-002.
- Trial name
- NCT00978731
- Testing
- Dasatinib
- Volunteers
- 46 people
- Sponsor
- Bristol-Myers Squibb
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