Clinical trials: Neurodevelopmental Disorders and Developmental Abnormalities
Sickle Cell Disease
Testing the Sickle Cell Caregiver Collaboration for Child Development (SCCCD) Intervention
Sickle cell disease affects 100,000 people and 2,000 newborns each year; 50% of these children have a developmental deficit (>2 SD) before the age of 3.
- Trial name
- SCCCD (NCT06562439)
- Testing
- Sickle Cell Collaboration for Child Development
- Where
- United States
- Sponsor
- Washington University School of Medicine
Intellectual Disabilities (F70-F79), Down Syndrome (DS)
Using Technologies to Promote HEalthy Lifestyles in Adolescents With Intellectual Disabilities
IDHEApp will implement various educational technology tools and work with the families, teachers and caregivers to increase physical activity (PA) and improve healthy eating.
- Conditions
- Intellectual Disabilities (F70-F79), Down Syndrome (DS), Autism Disorder
- Trial name
- IDHEAPP (NCT07101523)
- Testing
- mHealth
- Where
- Spain
- Volunteers
- 60 people
- Sponsor
- University of Seville
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
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
Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder
Internet-based Coaching for Young Adults With Neuropsychiatric Disorders
Purpose: To develop a model for internet-based support and coaching to young adults with neuropsychiatric disorders (NPD). To improve the individual's psychosocial functioning and his/her understanding of how he/she is…
- Conditions
- Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Tourette's Disorder
- Trial name
- NCT02316145
- Testing
- Habilitation (Internet-based support and coaching)
- Volunteers
- 12 people
- Sponsor
- Vardalinstitutet The Swedish Institute for Health Sciences
Abnormalities, Failure to Thrive
Evaluation of Patients With Unresolved Chromosome Abnormalities
The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity.
- Conditions
- Abnormalities, Failure to Thrive, Mental Retardation, Microcephaly
- Trial name
- NCT00001639
- Where
- United States
- Volunteers
- 263 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hyperekplexia, CTNNB1 Gene Mutation
Hyperekplexia in Patients With CTNNB1 Mutation
A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene.
- Trial name
- CTNNB1 (NCT05168969)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Musculoskeletal Diseases, Genetic Disease
Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
This study aimed to translate the Affordance in the Home Environment for Motor Development -Toddler (AHEMD-T) into Turkish and examine its psychometric properties.
- Conditions
- Musculoskeletal Diseases, Genetic Disease, Metabolic Disease, Delays Developmental
- Trial name
- NCT04556500
- Testing
- investigating the psychometric properties of Turkish Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
- Where
- Turkey (Türkiye)
- Volunteers
- 139 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
Brain Disorders, Aicardi Syndrome
Brain Development Research Program
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus…
- Trial name
- NCT00305305
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- University of California, San Francisco
Cerebral Palsy, Infant, Premature, Diseases
Associations Between Early Neonatal Neuroimaging, Hammersmith Infant Neurological Examination and General Movements
High risk infant is defined as infant with a negative history of environmental and biological factors, which can lead to neuromotor development problems.
- Conditions
- Cerebral Palsy, Infant, Premature, Diseases, Infant Development, Neurologic Disorder
- Trial name
- highrisk (NCT05217186)
- Testing
- Measurements
- Where
- Turkey (Türkiye)
- Volunteers
- 63 people
- Sponsor
- Kahramanmaras Sutcu Imam University
Williams Beuren Syndrome, Autism Spectrum Disorder
Molecular Characterization of Patients Affected by Williams Syndrome and Autism.
Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile including excessive talkativeness…
- Trial name
- WBA (NCT04095585)
- Testing
- chromosomal microarray analysis (CMA) and whole exome sequencing (WES)
- Volunteers
- 6 people
- Sponsor
- Hospices Civils de Lyon
Craniosynostosis, Sagittal, Scaphocephaly
Examination of Neuromotor Development of Cases Diagnosed with Scaphocephaly
It's an observational study. Purpose of the study: To evaluate the neuromotor development of scaphocephaly cases. 21 infants diagnosed with scaphocephaly aged 2-17 months were included.
- Conditions
- Craniosynostosis, Sagittal, Scaphocephaly, Developmental Delay
- Trial name
- NCT06294626
- Testing
- Group 1
- Where
- Turkey (Türkiye)
- Volunteers
- 21 people
- Sponsor
- Acıbadem Atunizade Hospital
Cerebral Palsy, Autism or Other Neuromotor Behavior Abnormalities Correlation With Anthropometry
Is There Any Correlation Among Neonates Anthropometry and Neuromotor Behaviour
To explore the association among anthropometric parameters and neuromotor behaviour in neonates for early identification and prediction of later neuromotor deficit.
- Trial name
- NCT05361213
- Where
- India
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Asir John Samuel
Williams Beuren Syndrome, Williams Syndrome
Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
The goal of this observational natural history study is to better characterize development, transition to adulthood, health and behavior of individuals diagnosed with Williams syndrome (WS) or carrying other variants of 7q11.23…
- Conditions
- Williams Beuren Syndrome, Williams Syndrome, Williams Beuren Region Duplication, Dup7
- Trial name
- NCT06930417
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Congenital Hypothyroidism
Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
Congenital hypothyroidism (CH) is a rare disease that affects 1 in 3500 newborn. This condition is detected consistently since the late 1970s in France, which has led to early care and a significant improvement in prognosis and…
- Trial name
- HYPOTYGEN (NCT01916018)
- Testing
- Clinical and radiologic exams and blood samples
- Where
- France
- Volunteers
- 558 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Down Syndrome, Cerebral Palsy
Measuring Aided Language Development
The focus of the current study is to systematically investigate the psychometric properties of a range of aided language measures, which are based on the Graphic Symbol Utterance and Sentence Development Framework (Binger \&…
- Conditions
- Down Syndrome, Cerebral Palsy, Apraxia of Speech, Speech Sound Disorder
- Trial name
- MALD (NCT06512168)
- Testing
- AAC Generative Language Intervention
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- University of Central Florida
Fragile X Syndrome
Trial of Sertraline to Treat Children With Fragile X Syndrome
This study is a control trial of sertraline (Zoloft) in fragile X syndrome children aged 2 years to 5 years 8 months old. The trial is six months long, and each participant will receive a series of tests at both the beginning and…
- Trial name
- NCT01474746
- Testing
- Sertraline
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Randi J. Hagerman, MD
Developmental and Epileptic Encephalopathy
A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)
This (DEEp OCEAN Study) is a double-blind, randomized, placebo-controlled, multicenter study to investigate the efficacy, safety, and tolerability of LP352 in the treatment of seizures in children and adults with DEE.
- Trial name
- NCT06719141
- Testing
- LP352
- Where
- 116 sites in United States, Australia and 15 more
- Volunteers
- 367 people
- Sponsor
- Longboard Pharmaceuticals
Encephalopathy, Developmental Delay and Behavioral Changes
RCT for Intermittent Versus Continuous Propofol Sedation for Pediatric Brain and Spine MRI Studies
RCT for Intermittent versus Continuous Propofol Sedation for Pediatric Brain and Spine MRI Studies
- Conditions
- Encephalopathy, Developmental Delay and Behavioral Changes, Cord Tumor Compression or Instability, Cord Tethering or Malformation
- Trial name
- NCT00515359
- Testing
- Intermittent Propofol Sedation, Continuous Propofol Sedation
- Where
- United States
- Volunteers
- 276 people
- Sponsor
- Corewell Health West