Clinical trials: Chromosome Disorders
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.
Angelman Syndrome
Characterization of Angelman Syndrome
Angelman Syndrome (AS) is a developmental disorder that is caused by a deficiency of a maternally transmitted gene. It is inherited at birth, and affects movement, speech, and social demeanor.
- Trial name
- NCT00296764
- Where
- 6 sites in United States
- Volunteers
- 302 people
- Sponsor
- Boston Children's Hospital
Leukemia, Lymphoma
Chemotherapy, Radiation Therapy, and Peripheral Stem Cell Transplantation in Treating Patients With Hematologic Cancer
RATIONALE: Peripheral stem cell transplantation may be able to replace immune cells that were destroyed by the chemotherapy or radiation therapy used to kill tumor cells.
- Conditions
- Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
- Trial name
- NCT00005092
- Testing
- Cyclophosphamide, Psoralen, Thiotepa
- Where
- 3 sites in United States
- Volunteers
- 7 people
- Sponsor
- M.D. Anderson Cancer Center
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, Vibration Therapy
Comparative Study of Two Applications on Muscle Strength, Balance and Motor Function in Children With Down Syndrome.
To differentiate between the efficacy of virtual reality and whole-body vibration on muscle strength, balance and motor function in children with down syndrome.
- Conditions
- Down Syndrome, Vibration Therapy, Virtual Reality
- Trial name
- NCT07816120
- Testing
- virtual reality, whole body vibration
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University
Obstructive Sleep Apnea, Down Syndrome
Medications for Obstructive Sleep Apnea to Improve Cognition in Children With Down Syndrome
This is an open-label study of the combination of atomoxetine and oxybutynin (ato-oxy) in children with Down syndrome and obstructive sleep apnea (OSA) documented by polysomnography (PSG).
- Trial name
- MOSAIC (NCT05933603)
- Testing
- Atomoxetine and Oxybutynin (ato-oxy)
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- University of Arizona
Down Syndrome
Motor Intervention Whit the Intorus Tool on Children With Down Syndrome
The goal of this clinical trial is to test in people with down syndrome how does the INTORUS tool influence their psychomotor development.
- Trial name
- NCT05740046
- Testing
- INTORUS
- Where
- Spain
- Volunteers
- 30 people
- Sponsor
- University of Extremadura
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Down Syndrome, Polyendocrinopathies, Autoimmune
Depressed AIRE Gene Expression Causes Immune Cell Dysfunction & Autoimmunity in Down Syndrome
This study plans to learn more about Down syndrome. The investigators think there is a different level of the AIRE gene in individuals with Down syndrome.
- Conditions
- Down Syndrome, Polyendocrinopathies, Autoimmune, Respiratory Tract Infections, Autoimmunity
- Trial name
- NCT02421276
- Testing
- Phlebotomy
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Chromosome Disorders
Noninvasive Prenatal Diagnosis: Using Fetal Cells From Maternal Blood
This purpose of this study is to develop noninvasive methods of prenatal diagnosis. Fetal cells can be found in maternal blood. This study is designed to isolate these fetal cells from a sample of the pregnant woman's blood and…
- Trial name
- NCT00064597
- Where
- 5 sites in United States
- Volunteers
- 3,500 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Turner Syndrome
Effects of Adrenal Androgens on Gender-typed Behavior in Girls With Turner Syndrome
Turner syndrome (TS) is a genetic disorder in which there is loss of all or part of the second X chromosome and occurs in 1/2500 live female births.
- Trial name
- NCT05346159
- Testing
- the correlation between level of adrenal androgen and gender-typed behavior in Girls with TS
- Where
- Egypt
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Sohag University
Williams Syndrome, Duplication
Defining the Brain Phenotype of Children With Williams Syndrome
Background: Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with 7q11.23 genetic variation change during this period.
- Trial name
- NCT01132885
- Where
- United States
- Volunteers
- 415 people, healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Down Syndrome
Relationship Between BMI, Physical Fitness and Motor Skills in Children With Down's Syndrome
Down syndrome is a congenital condition which includes physical mental, and functional abnormalities. It arises from defect involving chromosome 21, usually an extra copy (trisomy 21).
- Trial name
- NCT05904821
- Where
- Pakistan
- Volunteers
- 169 people
- Sponsor
- Riphah International University
Prader-Willi Syndrome
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics
Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients.
- Trial name
- NCT05791604
- Testing
- probiotics including B. lactis B420, B. lactis HN019, B. animalis Bb-12, L. rhamnosus GG, Prebiotics with galactomannan and oligofructose
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Children's Hospital of Fudan University
Down Syndrome
Effects of Bin Therapy on Finger Gnosia And Fine Motor Skill
Down syndrome is a hereditary disorder resulting from the occurrence of an additional copy of chromosome 21, resulting in discernible variations in cognitive and physical characteristics.
- Trial name
- NCT06576206
- Testing
- Bin therapy and finger gnosia, conventional therapy
- Where
- Pakistan
- Volunteers
- 30 people
- Sponsor
- Riphah International University
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
Leukemia, Lymphoma
Combination Chemotherapy Followed by Donor Bone Marrow Transplant or Peripheral Stem Cell Transplant in Treating Patients With Hematologic Cancer or Genetic Disorders
RATIONALE: Giving chemotherapy drugs, such as fludarabine and melphalan, before a donor bone marrow transplant or peripheral blood stem cell transplant helps stop the patient's immune system from rejecting the donor's stem cells…
- Conditions
- Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
- Trial name
- NCT00008307
- Testing
- anti-thymocyte globulin, cyclosporine, fludarabine phosphate
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Herbert Irving Comprehensive Cancer Center
Infertility, Intellectual Disability
Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities
Chromosomal aberrations are major causes of developmental disorders (Intellectual disability (ID), multiple congenital anomalies (MCA), autism spectrum disorders (ASD)) as well as reproductive disorders (RD) in particular…
- Conditions
- Infertility, Intellectual Disability, Malformation, Miscarriage
- Trial name
- CHROMAPS (NCT05290051)
- Testing
- Optical Genome Mapping (Bionano®), Longread sequencing (Nanopore®)
- Where
- France
- Volunteers
- 350 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Williams Syndrome
Fat Distribution and Glucose Metabolism in Williams Syndrome
Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and…
- Trial name
- NCT01864304
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital