Clinical trials: Disability Evaluation
Fragile X Syndrome
Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
This Phase IIb study is designed to assess whether 3 doses of AFQ056 are safe and effective in treating the behavioral symptoms of Fragile X Syndrome.
- Trial name
- NCT01357239
- Testing
- AFQ056
- Where
- 38 sites in United States, Australia and 14 more
- Volunteers
- 139 people
- Sponsor
- Novartis Pharmaceuticals
Cerebral Palsy and Healthy Individuals
Transcultural Validation of Activities Scale for Kids (ASK)
The Activities Scale for Kids performance (ASKp) is one of the few self-assessment questionnaires in pediatric rehabilitation that measures child perception in performance of daily routine activities.
- Trial name
- NCT03325842
- Testing
- ASKp
- Where
- Italy
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University of Modena and Reggio Emilia
Hunter Syndrome
Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
This long-term study will provide Elaprase treatment to children enrolled in this study and will utilize data from both enrolled patients and Hunter Outcome Survey (HOS) patient registry data to conduct the primary growth…
- Trial name
- NCT02455622
- Testing
- Elaprase for intravenous (IV) infusion
- Where
- 8 sites in United States, Dominican Republic and 6 more
- Volunteers
- 21 people
- Sponsor
- Shire
Down Syndrome
Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome
The purpose of this study is to determine whether folinic acid can improve developmental quotient of young Down syndrome patients, given that these present signs of folate deficiency which are known to cause reversible…
- Trial name
- NCT00294593
- Testing
- folinic acid
- Where
- France
- Volunteers
- 120 people
- Sponsor
- Institut Jerome Lejeune
Down Syndrome, Chromosome Abnormalities
Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening…
- Trial name
- NCT00006445
- Testing
- Ultrasound, Serum screen
- Where
- 10 sites in United States
- Volunteers
- 38,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Down Syndrome
Evaluation of a Simplified Method for Diagnosis of Sleep Apnea in Children and Adults With Down Syndrome
People with Down syndrome are at increased risk of sleep apnea, not only from obstruction of the upper airway, but also of central origin.
- Trial name
- SAOS/T21 (NCT00951730)
- Testing
- Polysomnography
- Where
- 3 sites in France
- Volunteers
- 97 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Prader-Willi Syndrome, Hyperphagia
Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome
This Phase 2b/3 double-blind, placebo-controlled study will evaluate the safety, tolerability, and effects of livoletide on food-related behaviors in patients with Prader-Willi Syndrome (PWS).
- Trial name
- ZEPHYR (NCT03790865)
- Testing
- Livoletide
- Where
- 37 sites in United States, Australia and 6 more
- Volunteers
- 158 people
- Sponsor
- Millendo Therapeutics SAS
Multiple Sclerosis, Pathologic Processes
Disability, MRI Lesions and Thickness of Retinal Fibers: Evaluation 15 Years After a First Episode of Demyelination
Knowledge of the evolution of multiple sclerosis (MS) and its long-term prognostic factors is essential to guide the therapeutic management.
- Conditions
- Multiple Sclerosis, Pathologic Processes, Tomography, Optical Coherence, Magnetic Resonance Imaging
- Trial name
- DB-SEP15 (NCT03268096)
- Testing
- Cerebral MRI and Optical Coherence Tomography
- Where
- France
- Volunteers
- 182 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Rett Syndrome
Lamivudine as a Novel Clinical Effort for Rett Syndrome
Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder caused primarily by mutations in the MECP2 gene, leading to progressive impairments in motor function, communication, and behavior following an initial period of…
- Trial name
- LANCE (NCT07640503)
- Testing
- Lamivudine
- Where
- Brazil
- Volunteers
- 10 people
- Sponsor
- Maria Denise Fernandes Carvalho de Andrade
Predisposition, Genetic, Cancer Childhood
EXOme Rare Cancers in Children (EXOCARE)
Other than high-dose radiation and previous chemotherapy, few strong risk factors have been identified as causes of childhood cancer.
- Conditions
- Predisposition, Genetic, Cancer Childhood, Development Delay
- Trial name
- EXOCARE (NCT03472807)
- Testing
- Collection of blood sample or saliva, Collection of a tumor sample taken before the participation of the patient in study, Collection of blood sample if tumor sample is not available
- Where
- 27 sites in France, Reunion
- Volunteers
- 169 people
- Sponsor
- University Hospital, Angers
Neurodevelopmental Disabilities, Emotional Regulation
Emotional Regulation in Children With ND: the Role of Genomic Variation, Proteomic Patterns, and Early Experience
Children with neurodevelopmental disabilities (ND) represent an heterogeneous population characterized by a wide range of clinical diagnoses (e.g., cerebral palsy, sensory impairment, psychomotor retardation), which are…
- Conditions
- Neurodevelopmental Disabilities, Emotional Regulation, Epigenetics, Parental Factors
- Trial name
- NCT05004090
- Testing
- DNA methylation analysis, Proteomics analysis, Still Face Paradigm
- Where
- Italy
- Volunteers
- 248 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Down Syndrome, Social Skills
Protocol for a Non-randomized Survey in Down Syndrome People Who Practice Sports. Self and Observers´ Perception.
This survey arises from one objective of a PhD thesis whose purpose is to "Identify what social skills people with Down syndrome have that do a routine activity and compare them with those developed by those SD people who perform…
- Conditions
- Down Syndrome, Social Skills, Physical Activity
- Trial name
- NCT04037579
- Testing
- Survey
- Where
- Spain
- Volunteers
- 300 people
- Sponsor
- Universidad de Córdoba
Rett Syndrome
Metabolic Evaluation of Nutrition in Rett Syndrome
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood.
- Trial name
- NCT00786071
- Where
- Netherlands
- Volunteers
- 13 people
- Sponsor
- Maastricht University Medical Center
Psoriasis Vulgaris
Pre-Post Multimodal Assessment Of Severe Psoriasis Vulgaris Using Clinical, Dermoscopic And QoL Measures
The goal of this observational study is to learn about the comprehensive changes in severe plaque psoriasis (Psoriasis Vulgaris) in adult participants undergoing standard treatment.
- Trial name
- NCT07495657
- Volunteers
- 45 people
- Sponsor
- Assiut University
Disability
Pneumatic Technology for Powered Mobility Devices
Over 240,000 Veterans with disabilities use mobility devices such as manual and power wheelchairs and scooters, and this number continues to grow.
- Trial name
- PTPMD (NCT03898362)
- Testing
- pneumatically powered wheelchair or scooter, battery powered wheelchair or scooter
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- VA Office of Research and Development
Neurodevelopmental Disorders, Intellectual Disability
Multi-Omics Genetic Investigation Strategies to Enhance the Diagnostic Workflow for Rare Diseases
LEOPARD is a multicenter study aimed at improving the genetic diagnosis of patients with neurodevelopmental disorders (NDDs) of unknown etiology, particularly those with moderate-to-severe intellectual disability.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Autism Spectrum Disorder, Genetic Diseases, Inborn
- Trial name
- LEOPARD (NCT07884227)
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Istituto Giannina Gaslini
Developmental Disabilities, Feeding Disorder
Tube Feeding Tolerance After Switch to Peptide Based Formula in Children With Developmental Delay
A retrospective chart review to assess feeding tolerance in children who had been switched from an intact protein formula to a Peptide based formula due to feeding intolerance in a pediatric facility for the developmentally…
- Trial name
- NCT02912065
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Société des Produits Nestlé (SPN)
Cerebral Palsy, Covid19
Covid-19 Pandemic and Cerebral Palsy
Investigator aimed to analyzed the effect of Covid-19 pandemic on the physical-psychosocial and cognitive state of the children, to benefit form the health, education services and the caregiver's quality of life with telemedicine.
- Conditions
- Cerebral Palsy, Covid19, Telemedicine, Caregiver Quality of Life
- Trial name
- NCT04686565
- Where
- Turkey (Türkiye)
- Volunteers
- 100 people
- Sponsor
- Diskapi Yildirim Beyazit Education and Research Hospital
Developmental Disability
Interactive Digital Game for Improving Visual Perceptual Defects in Children With Developmental Disability
Visual perceptual defects in children can negatively affect their activities of daily living.The aims of this study were to develop and evaluate an interactive digital game system for correcting visual perceptual defects and to…
- Trial name
- NCT05016492
- Testing
- Visual-perceptual interactive game system, standard rehabilitation
- Where
- Taiwan
- Volunteers
- 23 people
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda