Clinical trials: Cytogenetic Abnormality
Klinefelter Syndrome, XXY Syndrome
Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome).
- Trial name
- TestoXXY/KS (NCT01585831)
- Testing
- Testosterone gel 1%
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- University of Colorado, Denver
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
An Extension Study to Determine the Efficacy and Safety of STI571 in Participants With Chronic Myeloid Leukemia Who Are Refractory to or Intolerant of Interferon-Alpha
During the Core Phase of the study, participants received STI571 at a dose of 400 milligrams (mg) daily for up to 12 months. Participants completing 12 months of therapy were eligible to continue treatment in the Extension Phase…
- Trial name
- NCT00171223
- Testing
- STI571
- Where
- 28 sites in United States, France and 4 more
- Volunteers
- 532 people
- Sponsor
- Novartis Pharmaceuticals
Down Syndrome, Physical Inactivity
Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome
The investigators are assessing acceptability, appropriateness, and feasibility of an remote choreographed exercise intervention using validated scales alongside qualitative data among young adults with Down Syndrome.
- Trial name
- DANCE-DS (NCT06537648)
- Testing
- Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome Program
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Kansas Medical Center
Chromosome Disorders
Melatonin Levels in Smith Magenis Syndrome (SMS)
The goal of this pilot project is to determine whether melatonin levels are disordered in patients with Smith-Magenis Syndrome (SMS) and whether melatonin treatment can correct abnormal circadian rhythms in SMS patients.
- Trial name
- NCT00691574
- Testing
- Melatonin, Enviro-light artificial light box
- Where
- United States
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Fragile X Syndrome
Trial of Sertraline to Treat Children With Fragile X Syndrome
This study is a control trial of sertraline (Zoloft) in fragile X syndrome children aged 2 years to 5 years 8 months old. The trial is six months long, and each participant will receive a series of tests at both the beginning and…
- Trial name
- NCT01474746
- Testing
- Sertraline
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Randi J. Hagerman, MD
Fragile X Syndrome, Autism Spectrum Disorders
Acamprosate in Youth With Fragile X Syndrome
Fragile X syndrome (FXS) is the most common inherited form of developmental disability. FXS is inherited from the carrier parent, most often the mothers.
- Trial name
- NCT01300923
- Testing
- Acamprosate
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Indiana University
ADNP Syndrome
Low-Dose Ketamine in Children With ADNP Syndrome
This is a Phase 2A, single dose, open-label study to evaluate the safety, tolerability, and efficacy of a low-dose, 40-minute infusion into the veins (intravenous infusion or "IV") of ketamine in children with ADNP syndrome…
- Trial name
- NCT04388774
- Testing
- Ketamine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Alexander Kolevzon
Down Syndrome, Cognitive Dysfunction
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10
The purpose of this study is to determine the efficacy and safety of donepezil hydrochloride (Aricept) in the treatment of cognitive dysfunction shown by children with Down syndrome, aged 6 to 10 years.
- Trial name
- NCT00754013
- Testing
- Aricept (Donepezil hydrochloride)
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Eisai Inc.
Fragile X Syndrome
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
Fragile X Syndrome (FXS) is the most common known inherited form of mental impairment, developmental disability and autism. Minocycline is an antibiotic that has recently been used to treat the mouse model for Fragile X, and was…
- Trial name
- NCT00858689
- Testing
- Minocycline
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- FRAXA Research Foundation
Down Syndrome, Postural Balance
Balance Bike Training in Down Syndrome
Background: Children with Down syndrome (DS) present with hypotonia, impaired balance and poor gross motor proficiency which lead to difficulty learning new motor skills, decreased engagement in physical activity, and limited…
- Trial name
- NCT03677245
- Testing
- Strider Balance Bike
- Where
- United States
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of Mississippi Medical Center
Down Syndrome, Alopecia Areata
Tofacitinib for Immune Skin Conditions in Down Syndrome
People with Down syndrome (DS) display widespread immune dysregulation, including several immune skin conditions. This study hypothesizes that pharmacological inhibition of the increased interferon (IFN) signaling seen in DS is…
- Conditions
- Down Syndrome, Alopecia Areata, Atopic Dermatitis / Eczema, Hidradenitis Suppurativa
- Trial name
- NCT04246372
- Testing
- Tofacitinib
- Where
- United States
- Volunteers
- 47 people
- Sponsor
- University of Colorado, Denver
Leukemia, Myelogenous, Chronic, Breakpoint Cluster Region-Abelson Proto-oncogene (BCR-ABL) Positive
A Multicenter Phase 3, Open-Label Study of Bosutinib Versus Imatinib in Adult Patients With Newly Diagnosed Chronic Phase Chronic Myelogenous Leukemia
Phase 3, 2-arm, randomized, open label trial. Patients will be randomized to receive bosutinib or imatinib for the duration of the study.
- Trial name
- NCT02130557
- Testing
- Bosutinib, Imatinib
- Where
- 189 sites in United States, Australia and 24 more
- Volunteers
- 536 people
- Sponsor
- Pfizer
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
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
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
Down Syndrome, Obstructive Sleep Apnea Syndrome
Obstructive Sleep Apnea and Neurocognitive and Cardiovascular Function in Children With Down Syndrome
Many individuals with Down syndrome (DS) have breathing problems during sleep. This is called obstructive sleep apnea syndrome (OSAS).
- Trial name
- TRIO (NCT01808508)
- Testing
- Continuous positive airway pressure
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Children's Hospital of Philadelphia
Philadelphia Chromosome Positive CML
An Extension Study of the Safety and Anti-leukemic Effects of Imatinib Mesylate in Participants With Philadelphia Chromosome-positive Chronic Myeloid Leukemia in Blast Crisis
This extension II study allowed for further follow-up of the disease under treatment with imatinib mesylate and allow the participants to continue to receive imatinib mesylate.
- Trial name
- NCT00171158
- Testing
- imatinib mesylate
- Where
- 10 sites in United States, France and 2 more
- Volunteers
- 260 people
- Sponsor
- Novartis Pharmaceuticals
Prader-Willi Syndrome
Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is one of the most common genetic causes of obesity. Obesity is a major source of morbidity and mortality in this population.
- Trial name
- NCT01444898
- Testing
- Exenatide
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Los Angeles
Down Syndrome
Investigation of the Safety of Intranasal Glulisine in Down Syndrome
This study is a single center, randomized, double-blind, placebo-controlled, cross-over pilot study designed to assess the safety of intranasally (IN) delivered glulisine versus placebo in patients with DS.
- Trial name
- NCT02432716
- Testing
- Insulin glulisine, Saline
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- HealthPartners Institute
Prader-Willi Syndrome
Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome
The primary objective of this study is to assess the efficacy of cannabidiol oral solution on hyperphagia-related behavior in patients with Prader-Willi Syndrome (PWS).
- Trial name
- NCT02844933
- Testing
- Cannabidiol
- Where
- 7 sites in United States
- Volunteers
- 7 people
- Sponsor
- Radius Pharmaceuticals, Inc.