Clinical trials: Chromosome Disorders
Developmental Disability, Development Delay
Early Detection of Children With Developmental Disabilities in Assiut Governorate
The study aimed to determine the effectiveness of a designed training program for nurses toward early detection of developmental disabilities among children (0-3 years).
- Conditions
- Developmental Disability, Development Delay, Motor Delay, Down Syndrome
- Trial name
- NCT06263777
- Testing
- Nurses training program on early detection of disability
- Where
- Egypt
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Beni-Suef University
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
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Thymus Transplantation in DiGeorge Syndrome #668
The study purpose is to determine whether cultured thymus tissue implantation (CTTI) is effective in treating typical complete DiGeorge syndrome.
- Trial name
- NCT00576407
- Testing
- Cultured Thymus Tissue for Implantation (CTTI)
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Obesity, Genetic Disorder
Brain-Derived Neurotrophic Factor in Obesity and Brain Function
Background: Prader-Willi syndrome (PWS) and MC4R genetic mutations are two conditions that can cause problems with appetite regulation. People with PWS often have behavior and thinking problems.
- Conditions
- Obesity, Genetic Disorder, Mental Retardation, Developmental Delay
- Trial name
- NCT01517048
- Where
- 2 sites in United States, Canada
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Trisomy 8 Mosaicism, Trisomy 8 Associated Autoinflammatory Disease
Natural History of Trisomy 8-Associated Autoinflammatory Disease (TRIAD) and Related Disorders
Background: Trisomy 8 mosaicism is a genetic disorder that can increase inflammation in the body. Symptoms include fevers; sores or ulcers in the mouth, digestive tract, or genital area; skin rashes; problems in organs or…
- Conditions
- Trisomy 8 Mosaicism, Trisomy 8 Associated Autoinflammatory Disease, Mucosal Ulcerations
- Trial name
- NCT07683104
- Where
- United States
- Volunteers
- 750 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Mental Disorder
Mapping Personality Traits to Genes
Previous research involving families, twins, and adoption all support the idea that there is a substantial heritable aspect to personality.
- Trial name
- NCT00001414
- Where
- United States
- Volunteers
- 2,400 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Prader Willi Syndrome, Obsessive-compulsive Disorder
Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project
Obsessive-compulsive (OC) symptoms are often present among youth with Prader-Willi Syndrome (PWS). They are also associated with considerable problems in the daily functioning of the child and his/her family.
- Trial name
- NCT00742664
- Testing
- Cognitive-behavioral therapy, Wait-list control
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- University of South Florida
Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY
Health, Fitness, and Quality of Life in Adolescent Girls With Turner Syndrome
This study plans to learn more about how the energy system works in girls with Turner syndrome. This is important to know so that the investigators understand how Turner syndrome relates to diseases such as diabetes, extra weight…
- Conditions
- Turner Syndrome, Turner Syndrome Mosaicism, 45, X/46, XX or XY, Turner Syndrome Mosaicism 46,X,I(X)(Q10)/45,X, Turner Syndrome Karyotype 46,X With Abnormal Sex Chromosome , Except I(Xq)
- Trial name
- NCT03181230
- Testing
- No intervention
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Colorado, Denver
Down Syndrome
Non-drug Study to Assess the Suitability of Assessment Scales in Japanese Individuals With Down Syndrome Aged 6-30
To evaluate the suitability (i.e. number of tests completed and number of participants completing the tests, variance estimate of baseline and of the change from baseline values) of neurocognitive tests and functioning scales in…
- Trial name
- NCT02431117
- Where
- 7 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Chugai Pharmaceutical
Down Syndrome (DS)
Suspension Therapy Effects on Mobility and Balance in Down Syndrome
Down syndrome (DS) is one of the most common congenital disorders. Individuals with Down syndrome present with several impairments such as hypotonia, ligament laxity, decreased muscle strength, insufficient muscular…
- Trial name
- STOMP (NCT06748248)
- Testing
- suspension Therapy, Routine Treatment
- Where
- 2 sites in Pakistan
- Volunteers
- 26 people
- Sponsor
- Riphah International University
Chronic Myeloid Leukemia (CML), Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL)
Glivec/Gleevec Pediatric (Age 1 to Less Than 4) PK Study in CML, Ph+ ALL Patients and Other Glivec/Gleevec® Indicated Hematological Disorders.
This study will assess the pharmacokinetics of imatinib in pediatric patients ages 1 to <4 years of age to help develop dosing regimens
- Conditions
- Chronic Myeloid Leukemia (CML), Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia (Ph+ ALL), Other Glivec/Gleevec Indicated Hematological Disorders (HES, CEL, MDS/ MPN)
- Trial name
- NCT01066468
- Testing
- Gleevec/Glivec
- Where
- Russia
- Volunteers
- 3 people
- Sponsor
- Novartis Pharmaceuticals
Down Syndrome, Family
The Coping With and Caring for Infants With Special Needs Intervention in Down Syndrome Infants
The objective is to compare the impact of standard infant physical therapy and the family-centered program, Coping with and Caring for Infants with Special Needs (COPCA), on infants born with Down syndrome.
- Conditions
- Down Syndrome, Family, Physical Disability
- Trial name
- NCT06197035
- Testing
- Coping With and Caring for Infants With Special Needs, Standard Physiotherapy
- Where
- Spain
- Volunteers
- 40 people
- Sponsor
- University of Seville