Clinical trials: Chromosome Disorders
- Condition Chromosome Disorders
- Funder type Industry (pharma, biotech, devices)
- Age group Children (under 18)
Prader-Willi Syndrome
Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome
This study will evaluate the safety and efficacy of Tesomet (tesofensine + metoprolol) in subjects with PWS.
- Trial name
- PWS (NCT05198362)
- Testing
- Tesomet
- Where
- United States
- Sponsor
- Saniona
Prader-Willi Syndrome
Open-Label Extension Study of DCCR in PWS Followed by Double-Blind, Placebo-Controlled, Randomized Withdrawal Period
This is a multi-center, multi-period study with an open-label period followed by a double-blind, placebo-controlled, randomized withdrawal period evaluating the safety and efficacy of DCCR treatment.
- Trial name
- NCT03714373
- Testing
- DCCR
- Where
- 28 sites in United States, United Kingdom
- Volunteers
- 115 people
- Sponsor
- Soleno Therapeutics, Inc.
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
Relapsed/Refractory Acute Lymphoblastic Leukemia
An Study of Patients With Ph- Chromosome-negative Relapsed or Refractory Acute Lymphoblastic Leukemia in the US
A retrospective chart review study of Philadelphia chromosome-negative R/R ALL patients in the US.
- Trial name
- NCT02783651
- Testing
- Other
- Where
- 19 sites in United States
- Volunteers
- 212 people
- Sponsor
- Amgen
Prader-Willi Syndrome
An Open-Label Study of DCCR Tablet in Patients With PWS
The primary objective of this study is to monitor the long-term safety of DCCR in PWS patients.
- Trial name
- NCT04086810
- Testing
- DCCR
- Sponsor
- Soleno Therapeutics, Inc.
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.
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
Down Syndrome
A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)
This multi-center, randomized, double-blind, 3-arm, parallel-group, placebo-controlled study will evaluate the efficacy and safety of RG1662 in adults and adolescents with Down syndrome.
- Trial name
- NCT02024789
- Testing
- RG1662
- Where
- 37 sites in United States, Argentina and 8 more
- Volunteers
- 173 people
- Sponsor
- Hoffmann-La Roche
Post-natal Cytogenetics
Method Comparison and Clinical Specificity Study: Evaluation of the Infinium HD Cytogenetic Abnormality Test
The study will determine the performance of the Infinium HD Test. The primary objective of the study is to assess the performance of the Infinium HD Test using banked DNA samples extracted from whole blood patient samples derived…
- Trial name
- NCT01426308
- Where
- 3 sites in United States
- Volunteers
- 900 people, healthy volunteers welcome
- Sponsor
- Illumina, 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
22q11 Deletion Syndrome
NB-001 in Children and Adolescents With 22q11 Deletion Syndrome
This is a Phase 2, randomized, placebo-controlled crossover trial to assess the safety and efficacy of NB-001 in children and adolescents with 22q11DS that manifest commonly associated neuropsychiatric symptoms.
- Trial name
- NCT05290493
- Testing
- NB-001
- Where
- 4 sites in United States, Canada
- Volunteers
- 37 people
- Sponsor
- Nobias Therapeutics, Inc.
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
22q11.2 Deletion Syndrome
Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD.
- Trial name
- NCT02895906
- Testing
- NFC-1
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
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
Myeloid Leukemia, Philadelphia Positive
Study to Determine the Dose and Safety of Asciminib in Pediatric Patients With Chronic Myeloid Leukemia
The aim of this study is to support development of asciminib in the pediatric population (1 to <18 years) previously treated with one or more TKIs.
- Trial name
- NCT04925479
- Testing
- Asciminib Pediatric formulation group, Asciminib Adult formulation group
- Where
- 39 sites in United States, China and 12 more
- Volunteers
- 34 people
- Sponsor
- Novartis Pharmaceuticals
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.