Clinical trials: Cytogenetic Abnormality
Down Syndrome
Delivering Early Intervention to Children With Down Syndrome
Children with Down syndrome (DS) are at risk for significant language and communication impairments. Enhancing the service delivery of early intervention for children with DS is a key research and policy issue given the…
- Trial name
- NCT03935620
- Testing
- Enhanced Milieu teaching
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Oregon Health and Science University
Congenital Disorders
Pulmonary Hypertension in Trisomy 21 Patients
Evidence has shown poor outcome for adult patients with pre-operative pulmonary hypertension following closure of an atrial septal defect.
- Trial name
- NCT00478296
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Children's Healthcare of Atlanta
Cornelia de Lange Syndrome
Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome
This research project is a randomized cross-over pilot trial which aims to test the efficacy of N-acetylcysteine (NAC) for the treatment of Repetitive Behaviors (RB) and self-injurious behavior (SIB) in patients with Cornelia de…
- Trial name
- NCT04381897
- Testing
- N-acetyl cysteine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
22q11.2 Deletion Syndrome
Social Cognition Training and Cognitive Remediation
Social cognition refers to mental operations that enable people to perceive, interpret constantly changing social informations. These processes allow people to rapidly, effortlessly and flexibly perceive and interpret…
- Trial name
- RCKID (NCT03284060)
- Testing
- Cognitive remediation program
- Where
- France
- Volunteers
- 3 people
- Sponsor
- Hôpital le Vinatier
DiGeorge Syndrome, Shprintzen Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple
- Trial name
- NCT00005102
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Center for Research Resources (NCRR)
Down Syndrome
Treadmill Training and Orthotic Use in Infants With Down Syndrome
This study determines the effect of orthotic use in combination with treadmill training on the development of gross motor skills and walking onset in infants with Down syndrome.
- Trial name
- NCT00825175
- Testing
- Treadmill Training, Supramalleolar Orthoses
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- University of Michigan
Turner Syndrome
Somatropin Treatment to Final Height in Turner Syndrome
A randomized, controlled trial in girls with Turner syndrome at least 7 years old and younger than 13 at study entry, to determine the efficacy and safety of Humatrope (somatropin) treatment in promoting linear growth to final…
- Trial name
- GDCT (NCT00191113)
- Testing
- Somatropin, Ethinyl estradiol, Medroxyprogesterone acetate
- Where
- 14 sites in Canada
- Volunteers
- 154 people
- Sponsor
- Eli Lilly and Company
Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism
Growing up With the Young Endocrine Support System (YESS!)
Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out…
- Conditions
- Congenital Adrenal Hyperplasia, Hypogonadotropic Hypogonadism, Growth Hormone Deficiency, Combined Pituitary Hormone Deficiency
- Trial name
- YESS (NCT04252001)
- Testing
- YESS! game, Snake '97, Transition-toolkit
- Where
- 7 sites in Belgium, Netherlands and 2 more
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Intrauterine Growth Restriction, Fetal Anomaly
Diagnosis and Management of Intrauterine Growth Restriction and Congenital Anomalies
The purpose of this prospective cohort study is to build a large platform that includes clinical information (prenatal diagnosis and postnatal follow-up data) and biological specimen banks of fetuses/infants with IUGR or…
- Conditions
- Intrauterine Growth Restriction, Fetal Anomaly, Chromosomal Anomalies, Pregnancy
- Trial name
- NCT03398629
- Where
- China
- Volunteers
- 10,000 people
- Sponsor
- Guangzhou Women and Children's Medical Center
Cerebral Palsy, Neurologic Disorder
Post-operative Lite Run Study
Lite Run is a new assistive device that may have FDA listing as a Class I device by mid 2017 based on clinical testing of adults, independent agency testing and in-house evaluations.
- Conditions
- Cerebral Palsy, Neurologic Disorder, Chromosome Abnormality, Spina Bifida
- Trial name
- NCT03135145
- Testing
- Lite Run Gait Trainer, Usual Treatments
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Gillette Children's Specialty Healthcare
Sotos Syndrome, Beckwith-Wiedemann Syndrome
Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts.
- Conditions
- Sotos Syndrome, Beckwith-Wiedemann Syndrome, Overgrowth Syndrome, Body Image
- Trial name
- Body-PROBAND (NCT04993235)
- Testing
- NEPSY-II, CBCL and AQ questionnaires, BUT questionnaire and experimental tasks
- Where
- Italy
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Down Syndrome
Effects of Pelvic Girdle Stabililty With Use of Therapeutic Taping in Down Syndrome
A Interventional study on 16 down syndrome pateints and check effects o therapeutic taping on pelvic girdle stability on 8 weeks sessions
- Trial name
- NCT06770218
- Testing
- pelvic girdle stability training and therapeutic tapping, pelvic girdle stability training only
- Where
- 2 sites in Pakistan
- Volunteers
- 16 people
- Sponsor
- Riphah International University
Angelman Syndrome
Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
RANDOMIZED CLINICAL TRIAL, PLACEBO COMPARED TO EVALUATE THE EFFICACY AND SAFETY OF MINOCYCLINE IN ANGELMAN SYNDROME (A-MANECE STUDY)
- Trial name
- A-MANECE (NCT02056665)
- Testing
- MINOCYCLINE
- Where
- Spain
- Volunteers
- 32 people
- Sponsor
- Puerta de Hierro University Hospital
Fragile X Syndrome
AFQ056 for Language Learning in Children With FXS
The purpose of this clinical trial is to investigate the impact of AFQ056 on language learning in 3-6 year old children with Fragile X Syndrome (FXS).
- Trial name
- FX-LEARN (NCT02920892)
- Testing
- AFQ056, Language Intervention
- Where
- 14 sites in United States
- Volunteers
- 110 people
- Sponsor
- Elizabeth Berry-Kravis
Down Syndrome
Effect of Aerobic Exercises on Static & Dynamic Balance
To determine the effect of aerobic exercises on static \& dynamic balance of children in Down syndrome. When a person has Down syndrome, they have an extra chromosome. In the body, chromosomes are discrete collections of genes.
- Trial name
- NCT05915780
- Testing
- Cycling, Balance Board
- Where
- Pakistan
- Volunteers
- 20 people
- Sponsor
- Riphah International University
Prader-Willi Syndrome
An Open-Label Study of DCCR Tablet in Patients With PWS
The primary objective of this study is to monitor the long-term safety of DCCR in PWS patients.
- Trial name
- NCT04086810
- Testing
- DCCR
- Sponsor
- Soleno Therapeutics, Inc.
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Angelman Syndrome
Characterization of Angelman Syndrome
Angelman Syndrome (AS) is a developmental disorder that is caused by a deficiency of a maternally transmitted gene. It is inherited at birth, and affects movement, speech, and social demeanor.
- Trial name
- NCT00296764
- Where
- 6 sites in United States
- Volunteers
- 302 people
- Sponsor
- Boston Children's Hospital
Prader-Willi Syndrome
A Study of Pitolisant in Patients With Prader-Willi Syndrome
This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome.
- Trial name
- NCT06366464
- Testing
- Pitolisant tablet
- Where
- 57 sites in United States, Australia and 11 more
- Volunteers
- 134 people
- Sponsor
- Harmony Biosciences Management, Inc.
Down Syndrome, Vibration Therapy
Comparative Study of Two Applications on Muscle Strength, Balance and Motor Function in Children With Down Syndrome.
To differentiate between the efficacy of virtual reality and whole-body vibration on muscle strength, balance and motor function in children with down syndrome.
- Conditions
- Down Syndrome, Vibration Therapy, Virtual Reality
- Trial name
- NCT07816120
- Testing
- virtual reality, whole body vibration
- Where
- Egypt
- Volunteers
- 40 people
- Sponsor
- Cairo University