Clinical trials: Multiple Disability
Prader-Willi Syndrome
GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition
Prader-Willi syndrome (PWS) is a genetic disorder associated with growth hormone (GH) deficiency, central hypotonia and hyperphagia that leads to life-threatening obesity.
- Trial name
- NCT03616509
- Testing
- Growth hormone
- Where
- Spain
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Corporacion Parc Tauli
Mucopolysaccharidosis Type II, Metabolic Diseases
A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT04539340
- Testing
- GNR-055
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Aneuploidy, Trisomy 21
Non-Invasive Chromosomal Evaluation of Trisomy Study
This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.
- Conditions
- Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- NICHE (NCT02201862)
- Where
- 3 sites in United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Prader-Willi Syndrome
Respiratory Restriction in Prader-Willi Syndrome
The main aim of this study is therefore to evaluate the impact of Prader Willi Syndrome (PWS) on lung and thoracoabdominal volumes, respiratory muscle strength and awake ventilatory pattern, and to quantify and localize the…
- Trial name
- RESPIPWS (NCT06851351)
- Testing
- Spirometry and optoelectronic plethysmography
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istituto Auxologico Italiano
Posture, Balance
Training Balance Among People With Neurodevelopmental Disabilities
This study is a case control pilot study to investigate the impact of a short-term intervention on training anticipatory postural adjustments in a population of people with neurodevelopmental disabilities.
- Conditions
- Posture, Balance, Cerebral Palsy, Autism
- Trial name
- TAPAS (NCT04293120)
- Testing
- Training with weighted ball
- Where
- United States
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- University of Hartford
Down Syndrome
Shared Book Reading to Promote Mental Well-being Among Young People with and Without Down's Syndrome
Abstract Background: With the progress of society and the deepening of people's understanding of Down syndrome (DS), research has shifted focus on how to improve the quality of life and education for young people with DS.
- Trial name
- NCT06813625
- Testing
- Shared book reading intervention
- Where
- China
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Macau
Down Syndrome
Digital Dysmorphology Project
In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD).
- Trial name
- NCT02651493
- Testing
- photographs
- Where
- United States
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Kevin Cleary
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory
Prader-Willi Syndrome
PWS Outcomes Assessment Study
This is a longitudinal study during which qualitative interviews will be conducted with caregivers of Soleno C601/C602 study subjects.
- Trial name
- NCT04102839
- Testing
- Interview
- Where
- United States
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Soleno Therapeutics, Inc.
Intellectual Disabilities
Reading Intervention for Children With Intellectual Disabilities Who Require Augmentative and Alternative Communication
The goal of this multiple single case study with multiple randomized baseline (with four starting points and 18 measurements across time) is to conduct a reading intervention for 40 children with intellectual disabilities who…
- Trial name
- NCT05709405
- Testing
- Reading intervention
- Where
- 2 sites in Norway
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Ostfold University College
Diastolic Dysfunction, Neonatal Encephalopathy
Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography
The goal of this single-centre longitudinal observational study is to create reference values for diastolic function parameters in neonates born at 35 weeks' gestation or above, and to assess the influence of pre-defined…
- Conditions
- Diastolic Dysfunction, Neonatal Encephalopathy, Small for Gestational Age at Delivery, Transient Tachypnea of the Newborn
- Trial name
- DiFuSE (NCT06200519)
- Where
- Ireland
- Volunteers
- 216 people, healthy volunteers welcome
- Sponsor
- University College Cork
Prader-Willi Syndrome, Obesity
Plasma Adiponectin Level and Vascular Endothelial and Smooth Muscle Cell Function in Children With Prader-Willi Syndrome
Context: Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.
- Trial name
- NCT01479322
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
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
Pregnancy
Assessment of Women's Insight and Understanding of Down's Syndrome Screening by Non-invasive Prenatal Testing (NIPT) During Their First Ultrasound
Down's syndrome is the leading cause for mental retardation in France. Screening for this chromosomal abnormality is systematically proposed during pregnancy.
- Trial name
- DEPIST21 (NCT03549286)
- Testing
- Questionnaire passation
- Where
- France
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- CHU de Reims
Down Syndrome
Correlation Between Optic Nerve Vessel Anomalies, Serum Angiogenic Factors and Renal Anomalies in Down Syndrome Children
In approximately half of individuals with Down syndrome, an higher than normal number of vessels cross the optic disc margin. Investigator hypothesize that early retinal vessel branching occurs due to inhibition of angiogenesis…
- Trial name
- DOPANUR (NCT03206957)
- Testing
- Funduscopic examination and retinal photography, Serum levels of endostatin and angiogenesis factors, Renal and low urinary tract Doppler ultrasound
- Where
- Belgium
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Queen Fabiola Children's University Hospital
Down Syndrome, Hemiparesis
Kinematic Analysis of Manual Dexterity
The following study aims to standardize the instrumented BBT for the objective evaluation of upper limb joint kinematics using MoCap on a population of healthy subjects between 4 and 18 years of age.
- Conditions
- Down Syndrome, Hemiparesis, Healthy Subjects
- Trial name
- SUPERFUN (NCT07875127)
- Testing
- Inertial Measurement Unit and Box and Block test
- Where
- Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele Roma
Down Syndrome, SARS-CoV-2 Vaccination
Prospective Monitoring of Antibody Response Following COVID-19 Vaccination in Patients With Down Syndrome.
The risk of severe course of SARS-CoV-2 infection in people with Down Syndrome is substantially increased. The risk of death is 3-10 fold higher than in healthy people.
- Trial name
- PRIDE (NCT05145348)
- Testing
- Immune response to Sars-CoV-2 vaccinations; including COVID-19 vaccin Moderna, Comirnaty (Pfizer) and Vaxzevria (AstraZeneca)
- Where
- Netherlands
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Mucopolysaccharidosis Type II, Metabolic Diseases
A Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
It is a phase I open-label single-dose, dose-escalation cohort study to evaluate of the tolerance, safety, and pharmacokinetics of GNR-055 in healthy volunteers
- Trial name
- NCT06475404
- Testing
- verenafusp alfa 6 mg/kg, verenafusp alfa 9 mg/kg, verenafusp alfa 12 mg/kg
- Where
- Russia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- AO GENERIUM
Developmental Disability, Chronic Disease
QoL and Stress in Parents of Children With Developmental Disabilities and Chronic Disease
The aim of this cross-sectional study is to investigate the level of stress and quality of life in parents of children with developmental disabilities (Down syndrome, autism spectrum disorder, pervasive developmental disorder…
- Conditions
- Developmental Disability, Chronic Disease, Down Syndrome, Autism Spectrum Disorder
- Trial name
- NCT03602378
- Testing
- salivary cortisol, Holter Medilog AR12 Plus, Polar V800
- Where
- 2 sites in Croatia
- Volunteers
- 592 people, healthy volunteers welcome
- Sponsor
- University of Split, School of Medicine