Clinical trials: Chromosome Disorders
Genetic Disorder, Prader-Willi Syndrome
Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers
This trial is conducted in United States of America (USA). The aim of this trial is to examine the bioequivalence of Norditropin® versus Genotropin® in healthy adult volunteers.
- Conditions
- Genetic Disorder, Prader-Willi Syndrome, Growth Disorder, Idiopathic Short Stature
- Trial name
- NCT01401244
- Testing
- somatropin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Novo Nordisk A/S
Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia
Blinatumomab and Combination Chemotherapy or Dasatinib, Prednisone, and Blinatumomab in Treating Older Patients With Acute Lymphoblastic Leukemia
This phase II trial studies the side effects and how well blinatumomab and combination chemotherapy or dasatinib, prednisone, and blinatumomab work in treating older patients with acute lymphoblastic leukemia.
- Conditions
- Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia, B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1, Recurrent Acute Lymphoblastic Leukemia
- Trial name
- NCT02143414
- Testing
- Biopsy Procedure, Biospecimen Collection, Blinatumomab
- Where
- 195 sites in United States
- Volunteers
- 53 people
- Sponsor
- National Cancer Institute (NCI)
Down Syndrome, Trisomy 21
Down Syndrome Metabolic Health Study
The purpose of this research study is to determine which measures best capture cardiovascular disease (CVD) risk and type 2 diabetes (T2DM) risk in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01821300
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Fragile X Syndrome, Healthy Volunteers
Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical processes underlying adaptive…
- Trial name
- NCT00362843
- Testing
- [15-O]water
- Where
- United States
- Volunteers
- 147 people
- Sponsor
- National Institute of Mental Health (NIMH)
Prader Willi Syndrome, Hypoglycemia
Hypoglycemia in Prader-Willi Syndrome
This project will study whether infants with Prader-Willi Syndrome experience low blood sugars after short periods of fasting. This study will also evaluate metabolic markers in the blood to determine if infants with Prader-Willi…
- Trial name
- NCT01897363
- Testing
- Infants with Prader-Willi Syndrome
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Florida
Philadelphia Chromosome Positive Acute Lymphoblastic Leukemia, CD19+ Acute Leukemia
Adding Asciminib to Usual Treatment for Adults With Newly Diagnosed Philadelphia Chromosome Positive (Ph+) Acute Lymphoblastic Leukemia
This phase II trial is to answer the question of "can adding the study drug, asciminib to usual treatment improve how chemotherapy works against Ph+ Acute Lymphoblastic Leukemia (ALL) and is this approach better than the usual…
- Trial name
- NCT06773936
- Testing
- Induction Phase, Re-Induction Phase, Post-Remission
- Where
- 16 sites in United States
- Volunteers
- 55 people
- Sponsor
- SWOG Cancer Research Network
Prader Willi Syndrome, Hyperphagia
Functional Connectome in Prader-Willi Syndrome: Neuroimaging and AI to Assess Therapeutic Impact
The goal of this observational study is to explore brain network changes and identify patterns related to hyperphagia, hormonal treatment effects, and cognitive deficits in adults with Prader-Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Hyperphagia, Behavior Disorders
- Trial name
- NCT06900335
- Testing
- GH treatment (Somatropin), Eating
- Where
- Spain
- Volunteers
- 101 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
CML, Chronic Phase, CML (Chronic Myelogenous Leukemia
Precision Dosing of Tyrosine Kinase Inhibitors in CML Patients
The purpose of this prospective, single-institution observational study is to evaluate associations between the pharmacokinetic (PK) parameters for tyrosine kinase inhibitors (TKIs) used to treat chronic phase chronic myeloid…
- Conditions
- CML, Chronic Phase, CML (Chronic Myelogenous Leukemia, CML - Philadelphia Chromosome, Chronic Myeloid Leukemia
- Trial name
- NCT03885830
- Testing
- Bosutinib, Dasatinib, Imatinib
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
22q11.2 Deletion Syndrome
Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders.
- Trial name
- NCT04647500
- Testing
- Concerta
- Where
- Switzerland
- Volunteers
- 45 people
- Sponsor
- University of Geneva, Switzerland
Bladder Cancers
Detection of Chromosomal Aberrations in Urine Samples Using Fluorescent in Situ Hybridization (FISH) (UroVysion Test)
The purpose of the study is the identification of chromosomal aberrations in urine samples. The imaging system is intended for diagnostic use as an aid to the pathologist in the detection, counting and classification of UroVysion…
- Trial name
- NCT01264744
- Where
- 3 sites in United States
- Volunteers
- 174 people
- Sponsor
- Applied Spectral Imaging Ltd.
Leukemia, Lymphocytic, Acute, Philadelphia Chromosome
Imatinib Mesylate With Vincristine and Dexamethasone in Acute Lymphoblastic Leukemias With BCR-ABL Positive
Patients not previously exposed to imatinib and with resistant or refractory Ph+ ALL, lymphoid blast crisis chronic myelogenous leukaemia (LBC CML) or with de novo Ph+ ALL and aged over 55y were eligible in the study.
- Conditions
- Leukemia, Lymphocytic, Acute, Philadelphia Chromosome, Blast Crisis, Leukemia, Myeloid, Chronic
- Trial name
- AFR07 (NCT00763763)
- Testing
- Imatinib mesylate, Interferon, Vincristine
- Where
- France
- Volunteers
- 55 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Infertility
Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive Age
The objective of this study is to demonstrate that Preimplantation Genetic diagnosis will significantly reduce spontaneous abortions and increase ongoing pregnancy rates in patients of advanced maternal age (37-42) undergoing…
- Trial name
- NCT00646893
- Testing
- Preimplantation Genetic Diagnosis (PGD)
- Where
- 5 sites in United States, Spain
- Volunteers
- 1,200 people
- Sponsor
- Reprogenetics
Down Syndrome, Alzheimer's Disease
Down Syndrome Biomarker Initiative (DSBI)
Non-randomized natural history study involving 12 subjects with Down Syndrome, who are aged 30-60 years old. This study will observe 3 different groups: four non-demented subjects between ages 30-40 years old, four non-demented…
- Trial name
- DSBI (NCT02141971)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Michael Rafii
Angelman Syndrome
Nutritional Formulation for Angelman Syndrome
Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS).
- Trial name
- FANS (NCT03644693)
- Testing
- Nutritional Formulation Containing Exogenous Ketones
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- University of Colorado, Denver
Williams Beuren Syndrome
Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
The Williams-Beuren syndrome (WBS) is a sporadic congenital disorder characterized by a multisystem developmental impairment. This syndrome is caused by a microdeletion in chromosome 7q11.23 that encompasses loss of the elastin…
- Trial name
- Williams (NCT00876200)
- Testing
- Minoxidil
- Where
- 18 sites in France
- Volunteers
- 21 people
- Sponsor
- Hospices Civils de Lyon
Infertility
Influence of a Prematuration Culture With a Phosphodiesterase-3 Inhibitor (PDE3-I) on Embryonic Aneuploidy Rate and Developmental Potential
A single centre randomised controlled trial investigating the influence of a novel prematuration system (PMS) using a phosphodiesterase-3 inhibitor for in-vitro maturation of oocytes - pilot study.
- Trial name
- NCT00822874
- Testing
- prematuration culture
- Where
- Belgium
- Volunteers
- 115 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
Pregnant Women Requiring Amniocentesis
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes.
- Trial name
- DASIRUWIBE (NCT01842659)
- Testing
- Methylation Index
- Where
- France
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
DiGeorge Syndrome, Hypoparathyroidism
Parathyroid and Thymus Transplantation in DiGeorge #931
This study has three primary purposes: to assess parathyroid function after parathyroid transplantation in infants with Complete DiGeorge syndrome; to assess immune function development after transplantation; and, to assess…
- Conditions
- DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
- Trial name
- NCT00566488
- Testing
- Thymus/Parathyroid Transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Fragile X Syndrome
Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
The purpose of this research is to determine if saliva samples can be used as an alternate sample type to test for fragile X. By using saliva instead of blood, it would be easier for patients to have fragile X testing.
- Trial name
- NCT01616589
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Esoterix Genetic Laboratories, LLC
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