Clinical trials: Cytogenetic Abnormality
Complete DiGeorge Anomaly, DiGeorge Syndrome
Thymus Transplantation Safety-Efficacy
Complete DiGeorge anomaly (cDGA) is a disorder in which there is no thymus function. With no thymus function, bone marrow stem cells do not develop into educated T cells, which fight infection.
- Conditions
- Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- NCT01220531
- Testing
- Cultured Thymus Tissue
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Growth Hormone Disorder, Growth Hormone Deficiency in Children
Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents
This study is conducted in Europe. The aim of this study is to compare the easiness of use of Norditropin NordiFlex® device to the device previously used by patients or parents.
- Conditions
- Growth Hormone Disorder, Growth Hormone Deficiency in Children, Foetal Growth Problem, Small for Gestational Age
- Trial name
- NCT01245374
- Testing
- Norditropin NordiFlex®
- Where
- France
- Volunteers
- 103 people
- Sponsor
- Novo Nordisk A/S
Fragile X Syndrome (FXS)
A Study of OV101 in Individuals With Fragile X Syndrome
The purpose of this study is to assess the safety, tolerability and efficacy of oral OV101 (gaboxadol) in subjects with Fragile X syndrome.
- Trial name
- ROCKET (NCT03697161)
- Testing
- OV101 (gaboxadol)
- Where
- 6 sites in United States
- Volunteers
- 36 people
- Sponsor
- Ovid Therapeutics Inc.
Down Syndrome, Subclinical Hypothyroidism
Treatment Trial of Subclinical Hypothyroidism in Down Syndrome
The purpose of this research study is to learn about the effects of treating subclinical hypothyroidism (SCH) with thyroid hormone replacement in children and adolescents with Down syndrome (DS).
- Trial name
- NCT01832753
- Testing
- Levothyroxine
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital of Philadelphia
CML in Chronic Phase
Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase
This study will assess the efficacy and safety of nilotinib in adult patients with newly diagnosed Philadelphia chromosome positive/BCR-ABL positive chronic myeloid leukaemia in chronic phase.
- Trial name
- 'MACS1252 (NCT01061177)
- Testing
- Nilotinib
- Where
- 320 sites in Austria, Belgium and 24 more
- Volunteers
- 1,090 people
- Sponsor
- Novartis Pharmaceuticals
Prader-Willi Syndrome
CBDV vs Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS)
This study aims to examine the feasibility and safety of cannabidivarin (CBDV) as a treatment for children and young adults with PWS.
- Trial name
- NCT03848481
- Testing
- CBDV Compound
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Eric Hollander
Down Syndrome, Physical Inactivity
GameSquad for Adults With Down Syndrome
The investigators are assessing acceptability, appropriateness, and feasibility of the adapted GameSquad-DS intervention using validated scales alongside qualitative data among young adults with Down Syndrome.
- Trial name
- NCT05473247
- Testing
- Ring-Fit Adventure Group
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Down Syndrome
Gait in Children With Down Syndrome While Wearing Orthoses
On average, Down syndrome (DS) occurs once in every 700 live births and results in life-long disability and increased risk for comorbidities.1 Individuals with DS are also susceptible to secondary physical impairments and…
- Trial name
- NCT01598350
- Testing
- Supramalleolar Orthoses (Cascade)
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Puget Sound
Philadelphia Chromosome-Positive Chronic Myeloid Leukemia
A Study to Investigate Tolerability and Efficacy of Asciminib (Oral) Versus Nilotinib (Oral) in Adult Participants (≥18 Years of Age) With Newly Diagnosed Philadelphia Chromosome Positive Chronic Myelogenous Leukemia in Chronic Phase (Ph+ CML-CP)
The primary purpose of this study was to assess the tolerability of oral asciminib (80 mg QD) in comparison with that of the second generation (2G) Tyrosine Kinase Inhibitor (TKI) nilotinib (300 mg BID), in adult patients with…
- Trial name
- ASC4START (NCT05456191)
- Testing
- Asciminib, Nilotinib
- Where
- 119 sites in United States, Argentina and 22 more
- Volunteers
- 568 people
- Sponsor
- Novartis Pharmaceuticals
Myelodysplastic Syndromes
Lenalidomide Versus Placebo in Myelodysplastic Syndromes With a Deletion 5q[31] Abnormality
The purpose of this study was to compare 2 doses (10 mg and 5 mg) of lenalidomide to that of placebo in subjects with red blood cell (RBC) transfusion-dependent low- or intermediate-1-risk IPSS MDS associated with a deletion…
- Trial name
- NCT00179621
- Testing
- Lenalidomide 5 mg, Lenalidomide 10 mg
- Where
- 38 sites in Belgium, France and 7 more
- Volunteers
- 205 people
- Sponsor
- Celgene Corporation
Leukemia
Pegasys in Patients With Chronic Myeloid Leukemia (CML)
The goal of this clinical research study is to learn if adding pegylated interferon-alfa 2a (Pegasys) to the TKI that you are already receiving can help to control CML.
- Trial name
- NCT01392170
- Testing
- PEG-IFNá-2a
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- M.D. Anderson Cancer Center
Down Syndrome, Intellectual Disability
Down Syndrome Memantine Follow-up Study
The purpose of this research study is to learn if the medication Memantine Hydrochloride (the study medication) can help adolescents and young adults with Down syndrome. Dr.
- Trial name
- NCT02304302
- Testing
- Memantine
- Where
- 2 sites in United States, Brazil
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Down Syndrome
Assessing Malleability of Spatial Abilities in Down Syndrome
Based on available literature and our own preliminary research, the researchers have concluded that persons with Down syndrome (DS) exhibit difficulties in utilizing the specific spatial abilities of mental rotation and…
- Trial name
- NCT05332912
- Testing
- Spatial Ability Experience
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- University of Alabama, Tuscaloosa
DiGeorge Anomaly, DiGeorge Syndrome
Thymus Transplantation Dose in DiGeorge #932
One purpose of this study is to determine whether the amount of cultured thymus tissue implanted into DiGeorge anomaly infants has any effect on the immune outcome.
- Conditions
- DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- NCT00576836
- Testing
- Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Angelman Syndrome
Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
This study is designed to determine the highest dose of levodopa/carbidopa that can be tolerated without any serious side effects by children with Angelman syndrome.
- Trial name
- NCT00829439
- Testing
- Levodopa/Carbidopa (4:1)
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Boston Children's Hospital
Fragile X Syndrome
Placebo-Controlled, Single-Dose Challenge Study of Gaboxadol in Adult Males With Fragile X Syndrome (FXS)
This is a single dose, placebo-controlled study. Male subjects aged 18 to 40 years (inclusive) with a diagnosis of FXS. Eligible subjects may enroll in this study comprised of two in home and two in clinic visits each 14 days…
- Trial name
- NCT06334419
- Testing
- Gaboxadol
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Craig Erickson
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
Turner Syndrome, Hypogonadism
Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
Estrogen is necessary for feminization during puberty and to decrease bone resorption, the latter critical for the achievement of peak bone mass and normal bone health in the female.
- Conditions
- Turner Syndrome, Hypogonadism, Premature Ovarian Failure
- Trial name
- NCT00837616
- Testing
- 17 B estradiol orally, 17 B estradiol
- Where
- 3 sites in United States, Chile
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Osteoarthritis, Avascular Necrosis
Metal Ions in Ceramic on Metal Total Hip Arthroplasty
The investigators aim to measure the blood levels of certain metals in a group of patients all of whom have had a ceramic on metal total hip replacement.
- Conditions
- Osteoarthritis, Avascular Necrosis, Rheumatoid Arthritis, Developmental Dysplasia of the Hip
- Trial name
- COM (NCT01437124)
- Where
- United Kingdom
- Volunteers
- 83 people
- Sponsor
- Hussain Kazi
Fragile X Syndrome
Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
The purpose of this study is to determine whether the medication oxytocin is an effective and tolerable treatment in adolescent males with fragile X syndrome (FraX) for improving socially appropriate behaviors and reducing social…
- Trial name
- NCT01254045
- Testing
- oxytocin 24IU, oxytocin 48IU
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University