Clinical trials: Cytogenetic Abnormality
Prader-Willi Syndrome
Study of the Efficacy and Safety of Somatropin in Japanese Participants With PWS
This is a multicenter, open label, multi cohort study to evaluate the efficacy and safety of somatropin in a cohort of Japanese participants with PWS.
- Trial name
- NCT04697381
- Testing
- somatropin - GH naïve pediatric cohort, somatropin - GH treated cohort, somatropin - adult cohort
- Where
- 5 sites in Japan
- Volunteers
- 33 people
- Sponsor
- Pfizer
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Angelman Syndrome
Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
This study is designed to determine the highest dose of levodopa/carbidopa that can be tolerated without any serious side effects by children with Angelman syndrome.
- Trial name
- NCT00829439
- Testing
- Levodopa/Carbidopa (4:1)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Boston Children's Hospital
Sleep Apnea, Obstructive, Down Syndrome
A Pilot Study to Evaluate the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep Apnea
Obstructive sleep apnea (OSA) affects up to 1% of the general pediatric population and is associated with adverse behavior and quality of life, as well as long term cardiopulmonary system complications.
- Trial name
- NCT02344108
- Testing
- Inspire® Upper Airway Simulation System (Model 3028 IPG )
- Where
- 5 sites in United States
- Volunteers
- 42 people
- Sponsor
- Christopher Hartnick, M.D.
Down Syndrome, Obstructive Sleep Apnea
Investigating the Experience of Living With Down Syndrome and Obstructive Sleep Apnea Syndrome (Stage 1)
To identify the perceptions, beliefs, and family-relevant outcomes regarding the treatment of obstructive sleep apnea syndrome (OSAS) with positive airway pressure (PAP) in children with Down's Syndrome (DS).
- Trial name
- NCT04124471
- Testing
- Open-ended semi-structured interviews
- Where
- United States
- Volunteers
- 42 people
- Sponsor
- Children's Hospital of Philadelphia
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
Turner Syndrome, Hypogonadism
Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
Estrogen is necessary for feminization during puberty and to decrease bone resorption, the latter critical for the achievement of peak bone mass and normal bone health in the female.
- Conditions
- Turner Syndrome, Hypogonadism, Premature Ovarian Failure
- Trial name
- NCT00837616
- Testing
- 17 B estradiol orally, 17 B estradiol
- Where
- 3 sites in United States, Chile
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
22Q11 Deletion Syndrome
Mindfulness Program for Adolescents With 22q11DS
The goal of this study is to evaluate the effectiveness of the Aware Program, an online mindfulness education program, with adolescents with 22q11DS and their parents.
- Trial name
- NCT05849441
- Testing
- Aware Program
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Innovation Research & Training
Myelodysplastic Syndromes
Lenalidomide Safety/Efficacy in Myelodysplastic Syndromes (MDS) Associated With a Deletion (Del)(5q) Cytogenetic Abnormality
This study is a multicenter, single-arm, open-label study of oral lenalidomide monotherapy administered to red blood cell (RBC) transfusion-dependent subjects with low- or intermediate-1-risk Myelodysplastic Syndromes (MDS)…
- Trial name
- NCT00065156
- Testing
- lenalidomide
- Where
- 32 sites in United States, Germany
- Volunteers
- 148 people
- Sponsor
- Celgene
Down Syndrome, Alzheimer Disease
The Promotion of Physical Activity for the Prevention of Alzheimer's Disease in Adults With Down Syndrome
The objectives of this study are to determine the feasibility and potential efficacy of remotely delivered group exercise sessions to increase daily moderate to vigorous physical activity in adults with Down syndrome, relative to…
- Trial name
- NCT04048759
- Testing
- Remote Low, Remote High, Personal Coach
- Where
- United States
- Volunteers
- 81 people
- Sponsor
- University of Kansas Medical Center
Prader-Willi Syndrome
Growth Hormone Use in Adults With Prader-Willi Syndrome
The main research question this protocol aims to answer is whether treatment with growth hormone will impact body composition, quality of life, and energy balance in PWS adults, and if there is a loss of effects after cessation…
- Trial name
- NCT00444964
- Testing
- Nutropin AQ
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Children's Mercy Hospital Kansas City
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.
Prader-Willi Syndrome
Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome
This Phase 3 study is designed to test the effectiveness of intranasal carbetocin (LV-101) in participants with Prader-Willi syndrome (PWS). Carbetocin is an oxytocin analog (a man-made chemical that is like oxytocin).
- Trial name
- CARE-PWS (NCT03649477)
- Testing
- 3.2 mg intranasal carbetocin, 9.6 mg intranasal carbetocin
- Where
- 24 sites in United States, Australia and 1 more
- Volunteers
- 130 people
- Sponsor
- Levo Therapeutics, Inc.
Fragile X Syndrome
Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
The purpose of this study is to determine whether the medication oxytocin is an effective and tolerable treatment in adolescent males with fragile X syndrome (FraX) for improving socially appropriate behaviors and reducing social…
- Trial name
- NCT01254045
- Testing
- oxytocin 24IU, oxytocin 48IU
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University
Lymphoma, Non-Hodgkin, Leukemia, Lymphocytic, B Cell
CD19/CD22 Chimeric Antigen Receptor (CAR) T Cells in Children and Young Adults With Recurrent or Refractory CD19/CD22-expressing B Cell Malignancies
Background: B-cell leukemias and lymphomas are cancers that are often difficult to treat. The primary objective of this study is to determine the ability to take a patient's own cells (T lymphocytes) and grow them in the…
- Conditions
- Lymphoma, Non-Hodgkin, Leukemia, Lymphocytic, B Cell, B-Cell Lymphoma, B-Cell Leukemia
- Trial name
- NCT03448393
- Testing
- CD19/CD22 CAR T-Cells, Fludarabine, Cyclophosphamide
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- National Cancer Institute (NCI)
Prader-Willi Syndrome
Intranasal Oxytocin for Infants With Prader-Willi Syndrome
The purpose of this study is to compare the change in suck and swallow competency from baseline to morning of day 6 with intranasal oxytocin spray vs placebo in infants/children with Prader-Willi Syndrome who are in nutritional…
- Trial name
- NCT03245762
- Testing
- Oxytocin
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Florida
Klinefelter Syndrome
Androgen Effect on Klinefelter Syndrome Motor Outcome
The purpose of this study is to evaluate the effects of low-dose androgen on the motor and cognitive development of boys with Klinefelter syndrome.
- Trial name
- NCT00348946
- Testing
- androgen oxandrolone
- Where
- United States
- Volunteers
- 93 people
- Sponsor
- Thomas Jefferson University
Chronic Myeloid Leukemia
Safety and Efficacy of Nilotinib in Newly Diagnosed Chronic Myeloid Leukemia Patients
This study will further investigate the safety and efficacy of nilotinib in newly diagnosed chronic myeloid leukemia patients in the chronic phase
- Trial name
- ENESTxtnd (NCT01254188)
- Testing
- Nilotinib
- Where
- 100 sites in Algeria, Argentina and 17 more
- Volunteers
- 421 people
- Sponsor
- Novartis Pharmaceuticals
Down Syndrome, Refractive Errors
Dilated Versus Non-Dilated Wavefront Corrections for Patients With Down Syndrome
Individuals with Down syndrome (DS) live with visual deficits due, in part, to elevated levels of higher-order optical aberrations (HOA).
- Trial name
- NCT05059041
- Testing
- Dilated Refraction, Non-Dilated Refraction
- Where
- 2 sites in United States
- Volunteers
- 42 people
- Sponsor
- Ohio State University
Fragile X Syndrome
Trial of Minocycline to Treat Children With Fragile X Syndrome
This is a single center study at the UC Davis MIND Institute in patients age 3.5-16 years of age with fragile X syndrome (FXS), funded by a National Fragile X Foundation Grant.
- Trial name
- NCT01053156
- Testing
- minocycline hydrochloride
- Where
- United States
- Volunteers
- 66 people
- Sponsor
- University of California, Davis