Clinical trials: Chromosome Disorders
Angelman Syndrome
Study of the Prevalence of Autistic Traits in Angelman Syndrome
The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome.
- Trial name
- NCT06337383
- Where
- Italy
- Volunteers
- 46 people
- Sponsor
- IRCCS Eugenio Medea
Chronic Lymphocytic Leukemia, 17p Deletion
A Study of the Efficacy of ABT-199 in Subjects With Relapsed/Refractory or Previously Untreated Chronic Lymphocytic Leukemia With the 17p Deletion
This was an open-label, multicenter, global study to determine the efficacy of ABT-199 (Venetoclax) monotherapy in participants with relapsed/refractory (R/R) or previously untreated chronic lymphocytic leukemia (CLL) harboring…
- Conditions
- Chronic Lymphocytic Leukemia, 17p Deletion, Cancer of the Blood and Bone Marrow
- Trial name
- NCT01889186
- Testing
- ABT-199 (Main Cohort), ABT-199 (Safety Expansion Cohort)
- Where
- 48 sites in United States, Australia and 5 more
- Volunteers
- 158 people
- Sponsor
- AbbVie
Turner Syndrome
Growth Hormone Treatment of Women With Turner Syndrome
Growth hormone treatment is used in girls with Turner syndrome to increase final height. The aim of this study is to evaluate the effect of growth hormone treatment on body composition and heart function in adult women with…
- Trial name
- NCT00420654
- Testing
- Growth Hormone, Healthy controls
- Where
- Denmark
- Volunteers
- 24 people
- Sponsor
- Britta E. Hjerrild
Chronic Lymphocytic Leukemia
Study to Describe the Management and the Use of Healthcare Resources in Patients With Chronic Lymphocytic Leukemia (CLL) Initiating Venetoclax in Routine Clinical Practice
A study to assess the real-life management and use of healthcare resources during the initiation of: Venetoclax in combination with rituximab is indicated for the treatment of adult participants with chronic lymphocytic leukemia…
- Trial name
- DEVOTE (NCT03310190)
- Where
- 13 sites in Canada
- Volunteers
- 93 people
- Sponsor
- AbbVie
Kinesthetic Illusion
Animal Fun Program and Kinesthetic Development in Down Syndrome
The purpose of the study is that Animal-fun activities capture children's attention, making them a powerful tool for enhancing kinesthetic awareness and gross motor skills.
- Trial name
- NCT07579559
- Testing
- Animal fun program
- Where
- Pakistan
- Volunteers
- 25 people
- Sponsor
- Riphah International University
Prader-Willi Syndrome
Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation
The present project project is divided in two parts. The primary aim of the part 1 of this study is to evaluate emotional control abilities of children with Prader-Willi syndrome (PWS) aged from 9 to 15 years and to study…
- Trial name
- PRACOM1 (NCT04526379)
- Testing
- Questionnaires, t-VNS
- Where
- France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University Hospital, Toulouse
Trisomy 21, Trisomy 18
Prenatal Screening for Down Syndrome With DNAFirst
This study will explore how maternal plasma circulating cell free DNA (ccfDNA) can be used as a primary screening test for Down syndrome as part of routine clinical care in the general pregnancy population.
- Conditions
- Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X
- Trial name
- DNAFirst (NCT01966991)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Women and Infants Hospital of Rhode Island
Sarcoma, Kaposi, Lymphoma, Non-Hodgkin
A Study of Patients With AIDS Syndrome
The purpose of this study is to find out why cancers develop in HIV-positive patients. Cancer is a leading cause of death in AIDS patients.
- Conditions
- Sarcoma, Kaposi, Lymphoma, Non-Hodgkin, HIV Infections, Lymphoma, AIDS-Related
- Trial name
- NCT00001120
- Where
- 23 sites in United States
- Volunteers
- 5,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Acute Lymphoblastic Leukemia (ALL)
Safety and Efficacy of Marqibo in Relapsed Acute Lymphoblastic Leukemia
This was a Phase 2, international, multicenter, open-label, single-arm trial evaluating Marqibo (VSLI) in adult subjects with: 1) Ph- ALL or lymphoblastic lymphoma in second or greater relapse; or 2) Ph- ALL or lymphoblastic…
- Trial name
- NCT00495079
- Testing
- Marqibo® (vincristine sulfate liposomes injection)
- Where
- 33 sites in United States, Canada and 3 more
- Volunteers
- 65 people
- Sponsor
- Spectrum Pharmaceuticals, Inc
Turner Syndrome
Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?
Liver abnormalities are common in Turner syndrome. The physiopathology of these abnormalities is unknown for the moment but their potentially serious evolution requires additional explorations.
- Trial name
- NCT05473091
- Testing
- no intervention
- Where
- France
- Volunteers
- 179 people
- Sponsor
- Central Hospital, Nancy, France
Myeloproliferative Disorders, Kidney Cancer
Early Administration of ATG Followed by Cyclophosphamide, Busulfan and Fludarabine Before a Donor Stem Cell Transplant in Patients With Hematological Cancer
RATIONALE: Giving low doses of chemotherapy before a donor stem cell transplant helps stop the growth of cancer cells. It may also stop the patient's immune system from rejecting the donor's stem cells.
- Conditions
- Myeloproliferative Disorders, Kidney Cancer, Leukemia, Lymphoma
- Trial name
- NCT00787761
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Northside Hospital, Inc.
Fragile X Syndrome
Optical Imaging as a Tool for Monitoring Brain Function in Fragile X Syndrome
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure.
- Trial name
- NCT06293027
- Where
- Italy
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Primary Amenorrhoea, Hypothalamic Amenorrhoea
Pubertal Induction in Individuals With Hypogonadism
The investigators wish to explore the variability of uterine, breast and bone outcome markers as surrogates to assess the adequacy of exogenous oestrogen replacement in individuals with hypogonadism.
- Conditions
- Primary Amenorrhoea, Hypothalamic Amenorrhoea, Hypogonadotrophic Hypogonadism, Hypopituitarism
- Trial name
- NCT02871986
- Testing
- Routine transdermal oestrogen patch
- Where
- United Kingdom
- Volunteers
- 24 people
- Sponsor
- University College, London
Down's Syndrome, Fine Motor Skills
Effect of Virtual Video Reality Gaming on Fine Motor Skills in Children With Down's Syndrome
Down's syndrome is genetic disorder caused by trisomy 21. Children with Down's syndrome are characterized by awkward movements, gait, increased flexibility of joints, timing of mastering of basic skills, under development of fine…
- Trial name
- NCT05392322
- Testing
- Self-help skills, Virtual video reality gaming
- Where
- Pakistan
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Riphah International University
Genetic Disorder, Turner Syndrome
Use of Somatropin in Turner Syndrome
This trial is conducted in Europe. The aim of this trial is to study the dose-response relationship and effect of somatropin (Norditropin®) on final height in girls with Turner Syndrome.
- Trial name
- NCT01518036
- Testing
- somatropin
- Where
- United Kingdom
- Volunteers
- 57 people
- Sponsor
- Novo Nordisk A/S
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
Acute Myeloid Leukemia, Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive
Dexrazoxane Hydrochloride in Preventing Heart-Related Side Effects of Chemotherapy in Participants With Blood Cancers
This phase II trial studies how well dexrazoxane hydrochloride works in preventing heart-related side effects of chemotherapy in participants with blood cancers, such as acute myeloid leukemia, myelodysplastic syndrome, chronic…
- Conditions
- Acute Myeloid Leukemia, Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive, Blasts 10 Percent or More of Bone Marrow Nucleated Cells, High Risk Myelodysplastic Syndrome
- Trial name
- NCT03589729
- Testing
- Cladribine, Cytarabine, Dexrazoxane Hydrochloride
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- M.D. Anderson Cancer Center
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
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
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial
An exploratory phase 2 therapeutic trial in children from 6 to 21, RTS carriers, randomized to be treated either with sodium valproate with the usual pediatric dosage (30 mg/kg/j), or by placebo for one year.
- Trial name
- RUBIVAL (NCT01619644)
- Testing
- sodium valproate
- Where
- France
- Volunteers
- 41 people
- Sponsor
- University Hospital, Bordeaux