Clinical trials: Chromosome Disorders
Down Syndrome
Liq-NOL Efficacy in Pediatric Patients With Down Syndrome
The purpose of this study is to measure the effects of LiQ-NOL supplementation on language production using the Clinical Evaluation of Language Fundamentals test, language sampling using the mean length of utterance test, and…
- Trial name
- NCT00891917
- Testing
- Ubiquinol-10 Syrup
- Where
- United States
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit.
- Trial name
- GENEPI (NCT04122742)
- Testing
- skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included., Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy, Histone acetylation profiles of cells of SRT patients with CREBBP mutations
- Where
- France
- Volunteers
- 154 people
- Sponsor
- University Hospital, Bordeaux
Myeloproliferative Neoplasm
Intra-patient Dose Escalation Study to Investigate Safety and Feasibility of Vactosertib in Treating Anemic MPN Patients
This study assesses the potential of using a TGFβ receptor inhibitor for the treatment of anemic patients with myeloproliferative neoplasms.
- Trial name
- NCT04103645
- Testing
- Vactosertib
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Weill Medical College of Cornell University
Klinefelter Syndrome, Azoospermia
Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection
Klinefelter syndrome KS is caused by an additional X chromosome in males (47,XXY). Clinical findings are nonspecific during childhood; thus, the diagnosis commonly is made during adolescence or adulthood in males who have small…
- Trial name
- NCT02414295
- Testing
- Mesenchymal stem cell injection
- Where
- Egypt
- Volunteers
- 1 people
- Sponsor
- Man Clinic for Andrology, Male Infertility and Sexual Dysfunction
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Phase II Clinical Trial, Blinatumomab
Phase II Study of the Combination of Subcutaneous Blinatumomab and Olverembatinib in Patients With Philadelphia Chromosome (ph)-Positive and/or BCR::ABL1 Positive Acute Lymphoblastic Leukemia (ALL)
To find out if giving blinatumomab as injections under the skin and olverembatinib can help to control the disease in patients with Ph-positive ALL.
- Conditions
- Phase II Clinical Trial, Blinatumomab, Olverembatinib, Lymphoblastic Leukemia
- Trial name
- NCT07178912
- Testing
- Blinatumomab, olverembatinib
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- M.D. Anderson Cancer Center
Aneuploidy, Chromosome Abnormality
Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies
Mosaicism within an embryo is defined as the presence of two or more cell populations with different genotypes. Blastocysts classified as mosaic by Preimplamtation Genetic Testing for Aneuploidy (PGT-A) have been reported to…
- Trial name
- NS-MOSAICISM (NCT03673592)
- Testing
- PGT-A
- Where
- 3 sites in Italy
- Volunteers
- 783 people
- Sponsor
- Igenomix
Leukemia
Irinotecan and Cytarabine in Treating Patients With Refractory or Recurrent Acute Myeloid Leukemia or Chronic Myelogenous Leukemia
RATIONALE: Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. Combining more than one drug may kill more cancer cells.
- Trial name
- NCT00053144
- Testing
- cytarabine, irinotecan hydrochloride
- Where
- United States
- Sponsor
- Roswell Park Cancer Institute
Cerebral Palsy, Down Syndrome
Investigation of Parents' Anxiety Level and Health Related Quality of Life in Different Types of Physical Disabilities
Disability brings many psychosocial problems in society. The effects of the health of a disabled child on the psychological health and quality of life of the family are inevitable.
- Conditions
- Cerebral Palsy, Down Syndrome, Spina Bifida, Muscular Dystrophy
- Trial name
- NCT04035967
- Testing
- Questionnaire
- Where
- Turkey (Türkiye)
- Volunteers
- 91 people, healthy volunteers welcome
- Sponsor
- Sanko University
Prader-Willi Syndrome, Obesity
Effects of Transcranial Direct Current Stimulation (tDCS) on Individuals With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypotonia, mental retardation, hyperphagia, and uncontrollable hunger due to hypothalamic dysfunction, caused by dysregulation of genes located in…
- Conditions
- Prader-Willi Syndrome, Obesity, Depressive Disorder, Obsessive-Compulsive Disorder
- Trial name
- NCT03324906
- Testing
- tDCS
- Where
- Brazil
- Volunteers
- 40 people
- Sponsor
- Federal University of São Paulo
Quality of Life, Down Syndrome
OHRQoL and Parental Perception in a Group of Children and Adolescents With Down Syndrome: A Cross
The aim of the study is to evaluate Oral Health related quality of life of children and adolescents with down syndrome and Parental Perception, knowledge and Attitude on oral health conditions of children and adolescents with…
- Conditions
- Quality of Life, Down Syndrome, Oral Health
- Trial name
- NCT04394221
- Where
- Egypt
- Volunteers
- 194 people
- Sponsor
- Cairo 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
Acute Lymphoblastic Leukemia, BCR-ABL1 Fusion Protein Expression
Combination Chemotherapy and Dasatinib in Treating Participants With Philadelphia Positive or BCR-ABL Positive Acute Lymphoblastic Leukemia.
This phase II trial studies how well combination chemotherapy and dasatinib works in treating participants with Philadelphia-positive or B-cell receptor-ABL positive acute lymphoblastic leukemia.
- Conditions
- Acute Lymphoblastic Leukemia, BCR-ABL1 Fusion Protein Expression, Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Philadelphia Chromosome Positive
- Trial name
- NCT00390793
- Testing
- Cyclophosphamide, Cytarabine, Dasatinib
- Where
- United States
- Volunteers
- 107 people
- Sponsor
- M.D. Anderson Cancer Center
Down Syndrome
Correlations Phenotype / Genotype in Down Syndrome
The purpose of this study is to correlate phenotype and genotype of Down syndrome patients in order to identify the biochemical reactions involved in their mental retardation and their other phenotypic characteristics.
- Trial name
- INTREPID (NCT01034280)
- Where
- France
- Volunteers
- 524 people
- Sponsor
- Institut Jerome Lejeune
Klinefelter Syndrome
TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development.
- Trial name
- TESTO (NCT03325647)
- Testing
- Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution
- Where
- United States
- Volunteers
- 72 people
- Sponsor
- University of Colorado, Denver
Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q)
Sirolimus and Azacitidine in Treating Patients With High Risk Myelodysplastic Syndrome or Acute Myeloid Leukemia That is Recurrent or Not Eligible for Intensive Chemotherapy
This phase II trial studies how well sirolimus and azacitidine works in treating patients with high-risk myelodysplastic syndrome or recurrent acute myeloid leukemia.
- Conditions
- Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities, Adult Acute Myeloid Leukemia With Del(5q), Adult Acute Myeloid Leukemia With Inv(16)(p13;q22), Adult Acute Myeloid Leukemia With t(15;17)(q22;q12)
- Trial name
- NCT01869114
- Testing
- Sirolimus, Azacitidine
- Where
- 5 sites in United States
- Volunteers
- 57 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Thomas Jefferson University
Williams Syndrome, Supravalvular Aortic Stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness.
- Conditions
- Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease
- Trial name
- NCT02840448
- Where
- 2 sites in United States
- Volunteers
- 159 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Leukemia, Leukemia, Myeloid
Philadelphia Chromosome Positive CML Patients Without Optimal Response or Tolerance to Bcr-Abl TKI
A Phase I/II multicenter study of IY5511HCl in Philadelphia chromosome positive chronic myeloid leukemia patients without optimal response or tolerance to Bcr-Abl tyrosine kinase inhibitors (Imatinib and/ or Dasatinib, Nilotinib)…
- Conditions
- Leukemia, Leukemia, Myeloid, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Philadelphia Chromosome
- Trial name
- NCT01602952
- Testing
- Radotinib
- Where
- 12 sites in India, South Korea and 1 more
- Volunteers
- 85 people
- Sponsor
- Il-Yang Pharm. Co., Ltd.
Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Philadelphia Chromosome Positive, BCR-ABL1 Positive Chronic Myelogenous Leukemia
Dasatinib and Venetoclax in Treating Patients With Philadelphia Chromosome Positive or BCR-ABL1 Positive Early Chronic Phase Chronic Myelogenous Leukemia
This phase II trial studies how well dasatinib and venetoclax work in treating patients with Philadelphia chromosome positive or BCR-ABL1 positive early chronic phase chronic myelogenous leukemia.
- Trial name
- NCT02689440
- Testing
- Dasatinib, Laboratory Biomarker Analysis, Venetoclax
- Where
- United States
- Volunteers
- 155 people
- Sponsor
- M.D. Anderson Cancer Center
Infertility
Chromosomal and Morphological Structure of Mature and Immature Male Germ Cells and Recognition of IL-18 in Testicular Tissue of Azoospermic Men
To develop a biotechnological assay which will be able to recognize germ cells of the spermatogenic lineand and to identify the chromosomal and morphological structure of mature and immature male germ cells, in cases of of sperm…
- Trial name
- NCT00544089
- Where
- Israel
- Volunteers
- 25,907 people, healthy volunteers welcome
- Sponsor
- Assaf-Harofeh Medical Center