Clinical trials: Cytogenetic Abnormality
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
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
Fragile X Syndrome
A Study of BPN14770 in Male Adults (Aged 18 to 45) With Fragile X Syndrome
A Randomized, Double-blind, Placebo-controlled, Parallel Group Study of BPN14770 in Male Adults (Aged 18 to 45) with Fragile X Syndrome
- Trial name
- NCT05358886
- Testing
- BPN14770/ zatolmilast
- Where
- 17 sites in United States
- Volunteers
- 171 people
- Sponsor
- Tetra Discovery Partners
Aneuploidy
Polar Body Biopsy for Preimplantation Genetic Screening
People with infertility undergoing in vitro fertilization (IVF) can test the embryos using a method called preimplantation genetic screening (PGS) before they are implanted in the uterus to possibly increase their chances of…
- Trial name
- Polar Body (NCT01574404)
- Testing
- Polar body biopsy with PGS
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Multiple Myeloma
2015-09: a Phase II Randomized, Open-label Study of Anti-signaling Lymphocytic Activation Molecule Monoclonal Antibody During Maintenance Therapy
This study will compare the effectiveness and safety of maintenance therapy with continuous bortezomib, lenalidomide, and dexamethasone (VRD) compared to maintenance therapy that alternates VRD with Elotuzumab, lenalidomide, and…
- Trial name
- NCT03000634
- Testing
- Elotuzumab, Bortezomib, Lenalidomide
- Sponsor
- University of Arkansas
Hypoparathyroidism, DiGeorge Syndrome
Effects of PTH Replacement on Bone in Hypoparathyroidism
Hypoparathyroidism is a rare condition associated with a low level of parathyroid hormone (PTH) in the blood. Hypoparathyroidism can be genetic and show up in childhood, or it can occur later in life.
- Trial name
- NCT00395538
- Testing
- PTH 1-34
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Aneuploidy, Infertility
A Time-lapse Monitoring Prospective Study
While numerous types of commercially available human embryo culture media exist for human blastocyst culture, the impact of culture conditions on blastocyst development and aneuploidy formation is not fully understood.
- Trial name
- NCT04901247
- Testing
- media refreshment, embryo grading
- Where
- 2 sites in United Arab Emirates
- Volunteers
- 50 people
- Sponsor
- ART Fertility Clinics LLC
Growth Hormone Deficiency, Idiopathic Short Stature
Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature
This study evaluates long-term safety and effectiveness of Growtropin®-II treatment in children with short stature.
- Conditions
- Growth Hormone Deficiency, Idiopathic Short Stature, Turner Syndrome, Small for Gestational Age
- Trial name
- NCT04798690
- Where
- South Korea
- Volunteers
- 5,000 people
- Sponsor
- Dong-A ST Co., Ltd.
Fragile X Syndrome, Williams Syndrome
Cooperative Parent Mediated Therapy in Children With Fragile X Syndrome and Williams Syndrome
Fragile X Syndrome (FXS) and Williams-Beuren Syndrome (WBS) are relatively rare disorders characterized by developmental delay associated to socio-communicative deficit and autistic-like behaviours.
- Trial name
- NCT04610424
- Testing
- Cooperative Parent Mediated Therapy" (CPMT), As usual
- Where
- Italy
- Volunteers
- 14 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Down Syndrome, Cognitive Dysfunction
Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome, Aged 6 To 10
The purpose of this study is to determine the efficacy and safety of donepezil hydrochloride (Aricept) in the treatment of cognitive dysfunction shown by children with Down syndrome, aged 6 to 10 years.
- Trial name
- NCT00754013
- Testing
- Aricept (Donepezil hydrochloride)
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- Eisai Inc.
Chromosome 22q11.2 Deletion Syndrome
Genetics and Psychopathology in the 22q11 Deletion Syndrome
The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes that contribute to the occurrence of these symptoms.
- Trial name
- NCT00161109
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 175 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Down Syndrome, Intellectual Disability
Escalating Doses of Memantine in Down Syndrome (MEDS-123)
Down syndrome (DS) is typically caused by an extra chromosome 21 in the cell nucleus (trisomy 21, or T21). T21 is both the most common cause of genetically defined intellectual disability and the earliest documented cause of…
- Conditions
- Down Syndrome, Intellectual Disability, Alzheimer Dementia (AD)
- Trial name
- NCT07531940
- Testing
- Memantine
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University Hospitals Cleveland Medical Center
Congenital Webbing of Neck
Mehri Turki Surgical Technique of the Webbed Neck
The webbed neck is one of the conspicuous deformities of Turner syndrome that presents a surgical challenge. Despite the availability of surgical techniques, surgical outcomes are not always acceptable and recurrence occurs.
- Trial name
- NCT06446791
- Testing
- Mehri Turki Surgical Technique of the Webbed Neck
- Volunteers
- 5 people
- Sponsor
- Mohamed Tahar Maamouri University Hospital
Angelman Syndrome
Minocycline in the Treatment of Angelman Syndrome
There is mounting evidence to suggest that a treatment for Angelman syndrome is not just possible, but probable. The lack of known molecular targets associated with AS has hampered the development of specific therapeutics.
- Trial name
- NCT01531582
- Testing
- minocycline
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- University of South Florida
Down Syndrome
Effects of Powerball in Children With Down Syndrome
This randomised clinical trial investigates the effects of powerball using static and dynamic surface on upper limb Endurance and coordination in children with Down Syndrome.
- Trial name
- NCT07244133
- Testing
- Power ball with static surface, Powerball with dynamic surface
- Where
- Pakistan
- Volunteers
- 28 people
- Sponsor
- Riphah International University
Down Syndrome
Visual Perception Intervention Programmes Impact on Down Syndrome Affiliate Children's Fine Motor and Visual Perception.
A second copy of chromosome 21 results in Trisomy 21, a genetic disorder commonly referred to as Down syndrome. In addition to physical traits like low muscular tone, upward-slanting eyes, and a flat facial profile, this extra…
- Trial name
- NCT06531213
- Testing
- experimental, controlled
- Where
- Pakistan
- Volunteers
- 34 people
- Sponsor
- Riphah International University
Down Syndrome
Effect of Neuro Developmental Therapy in Infants With Down Syndrome
Neurodevelopmental treatments are a progressive therapeutic method experienced thru qualified therapists for the improvement in affected ones.
- Trial name
- NCT04816409
- Testing
- conventional therapy, Neurodevelopmental therapy
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Fragile X Syndrome
Clinical Study Of caNNabidiol in childrEn and adolesCenTs With Fragile X (CONNECT-FX)
This trial will evaluate the efficacy and safety of ZYN002, a clear cannabidiol gel that can be applied to the skin (called transdermal application) twice a day for the treatment of behavioral symptoms of Fragile X Syndrome…
- Trial name
- CONNECT-FX (NCT03614663)
- Testing
- ZYN002 - Cannabidiol Transdermal Gel
- Where
- 21 sites in United States, Australia and 1 more
- Volunteers
- 212 people
- Sponsor
- Zynerba Pharmaceuticals, Inc.
Down Syndrome
TheraTogs Versus Reciprocal Electrical Stimulation on Children With Diplegic Cerebral Palsy: a Randomized Controlled Trial
Children with diplegic cerebral palsy exhibit postural restrictions as a result of both primary and secondary brain damage impairments. One of the main goals of cerebral palsy rehabilitation is to improve balance and stability.
- Trial name
- NCT05702632
- Testing
- 1- Reciprocal electrical stimulation, TheraTogs orthotic treatment, traditional physical therapy program
- Where
- Egypt
- Volunteers
- 15 people
- Sponsor
- Cairo University
Prader-Willi Syndrome
Register of Patients With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity.
- Trial name
- NCT02829684
- Testing
- Data collection
- Where
- France
- Volunteers
- 500 people
- Sponsor
- University Hospital, Toulouse
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