Clinical trials: Disabilities, Intellectual
Prader-Willi Syndrome
Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome
This Phase 3 study is designed to test the effectiveness of intranasal carbetocin (LV-101) in participants with Prader-Willi syndrome (PWS). Carbetocin is an oxytocin analog (a man-made chemical that is like oxytocin).
- Trial name
- CARE-PWS (NCT03649477)
- Testing
- 3.2 mg intranasal carbetocin, 9.6 mg intranasal carbetocin
- Where
- 24 sites in United States, Australia and 1 more
- Volunteers
- 130 people
- Sponsor
- Levo Therapeutics, Inc.
Intellectual Disability
Pilot Project of Forest Bathing for Promoting Health
An exploratory trial using a cuasi-experimental design aimed to improve the quality of life of people with intellectual disabilities.
- Trial name
- NCT05472571
- Testing
- Forest bathing
- Where
- Spain
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Clinica Universidad de Navarra, Universidad de Navarra
Trisomy 21
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the…
- Trial name
- dPNI-T21 (NCT03687866)
- Testing
- non invasive prenatal testing
- Where
- France
- Volunteers
- 776 people, healthy volunteers welcome
- Sponsor
- University Hospital, Caen
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
Intellectual Disability
Physical Activity, Sports and Health in Adults With Intellectual Disabilities
Currently, there is a paucity of quality research within the field of health science with a focus on persons with intellectual disabilities, and especially how longer lasting periods of varied physical activity affects the target…
- Trial name
- NCT05336487
- Testing
- Physical activity
- Where
- Denmark
- Volunteers
- 85 people, healthy volunteers welcome
- Sponsor
- University of Copenhagen
Rett Syndrome, RTT
Neurophysiologic Biomarkers in Rett Syndrome
The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: Do these biomarkers change during clinical changes in individuals with…
- Conditions
- Rett Syndrome, RTT, Rett Syndrome, Atypical
- Trial name
- NCT05932589
- Testing
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment
- Where
- 6 sites in United States
- Volunteers
- 222 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Down Syndrome
Effects of Whole-body Vibration Training on Body Composition in Adolescents With and Without Down Syndrome
The main aims of the present project include 1) to study the longitudinal effects of whole-body vibratory exercise on bone metabolism in adolescents with and without DS and 2) to evaluate whether a low frequency vibratory…
- Trial name
- NCT02380638
- Testing
- Whole-body vibration training (Power Plate®) on bone mass and bone metabolism in adolescents with and without Down syndrome.
- Where
- Spain
- Volunteers
- 58 people, healthy volunteers welcome
- Sponsor
- Universidad de Zaragoza
Intellectual Disability, Intellectual Impairment
Perceptual-vision Training and Intellectual Disabilities
Physical activity for healthy ageing is an important feature and the possibility to detect practical solutions to solve the need for feasible health promotion interventions to reduce health disparities and wellbeing in…
- Conditions
- Intellectual Disability, Intellectual Impairment, Activity, Motor, Sports Physical Therapy
- Trial name
- NCT06628999
- Testing
- Visual Training, Control Group, Visual Training-detraining
- Volunteers
- healthy volunteers welcome
- Sponsor
- Università degli Studi dell'Insubria
Hunter Syndrome, Mucopolysaccharidosis II (MPS II)
Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
Study TKT024EXT was a long-term, single-arm, open-label extension of Study TKT024, a one year Phase 2/Phase 3 registration study.
- Trial name
- NCT00630747
- Testing
- Idursulfase
- Where
- 52 sites in United States, Brazil and 8 more
- Volunteers
- 94 people
- Sponsor
- Shire
Mucopolysaccharidosis I, Mucopolysaccharidosis VI
Human Placental-Derived Stem Cell Transplantation
The purpose of this clinical trial is to investigate the safety of human placental-derived stem cells (HPDSC) given in conjunction with umbilical cord blood (UCB) stem cells in patients with various malignant or nonmalignant…
- Conditions
- Mucopolysaccharidosis I, Mucopolysaccharidosis VI, Adrenoleukodystrophy, Niemann-Pick Disease
- Trial name
- HPDSC (NCT01586455)
- Testing
- Human Placental Derived Stem Cell
- Where
- 3 sites in United States
- Volunteers
- 43 people
- Sponsor
- New York Medical College
Down Syndrome
Effects of Jump Rope on Navicular Drop in Down Syndrome
foot posture in children with Down syndrome. The current study will be randomized control trial, data will be collected from Tanzeem ul Lissan School FSD, Children Hospital FSD and Allied Hospital FSD.
- Trial name
- NCT07428863
- Testing
- jumping rope and play activities, play activities
- Where
- Pakistan
- Volunteers
- 32 people
- Sponsor
- Riphah International University
Prader Willi Syndrome
Oxytocin Trial in Prader-Willi Syndrome
Individuals with Prader-Willi syndrome (PWS) have been found to have a deficit of oxytocin-producing neurons and decreased oxytocin receptor gene function, so the purpose of this study is to determine if oxytocin (OT)…
- Trial name
- NCT02013258
- Testing
- Intranasal oxytocin
- Where
- 3 sites in United States
- Volunteers
- 24 people
- Sponsor
- University of Florida
Sanfilippo Syndrome
Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease
Sanfilippo syndrome Type A, or Mucopolysaccharidosis (MPS) IIIA, is a rare lysosomal storage disease caused by deficiency of the enzyme heparan N-sulfatase (sulfamidase).
- Trial name
- NCT02060526
- Testing
- Recombinant human heparan N-sulfatase [rhHNS]
- Where
- 10 sites in United States, Argentina and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Balance, Down Syndrome
Pilates Exercises and Down Syndrome
Down syndrome is one of the genetic disorders that affect postural control and balance in children. Balance involves controlling the position of the body in space to achieve stability and orientation.
- Conditions
- Balance, Down Syndrome, Pilates Exercises
- Trial name
- NCT05928949
- Testing
- pilates exercises
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Down Syndrome
Gait Parameters of Persons With Down Syndrome With and Without Orthotics Using GaitRite
This is a research study of persons with Down Syndrome between 2 and 80 years old who are independently walking. The purpose of this study is to see what effect orthotics have on how people with Down Syndrome walk.
- Trial name
- NCT01390558
- Testing
- custom orthotics
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Oregon Health and Science University
Sjogren-Larsson Syndrome
ADX-629 Therapy for Sjogren-Larsson Syndrome
This research study will determine whether orally administered ADX-629 is safe and has biochemical efficacy in participants with Sjögren-Larsson syndrome (SLS), a rare inherited disorder of fatty aldehyde metabolism The disease…
- Trial name
- NCT05443685
- Testing
- ADX-629
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Nebraska
Schizophrenia
A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations
Schizophrenia (SCH) is a devastating brain disorder with grave personal, family and social cost. SCH is a complex and heterogeneous (both genetic and clinical) disorder with oligogenetic endowed vulnerability risk of disease…
- Trial name
- SONPOS (NCT01075373)
- Where
- Taiwan
- Volunteers
- 360 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Rubinstein-Taybi Syndrome
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit.
- Trial name
- GENEPI (NCT04122742)
- Testing
- skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included., Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy, Histone acetylation profiles of cells of SRT patients with CREBBP mutations
- Where
- France
- Volunteers
- 154 people
- Sponsor
- University Hospital, Bordeaux
Prader-Willi Syndrome, Obesity
Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome
Context: Adiponectin is an adipose tissue-derived hormone with an insulin sensitizing effect, and has been related to obstructive sleep apnea syndrome.
- Trial name
- NCT01622751
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
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