Clinical trials: Disabilities, Intellectual
Rett Syndrome, Neurologic Disorder
Assessment of Nutritional and Growth Status in Rett Syndrome Patients
Children with Rett syndrome are in a period of rapid growth, and proper and appropriate nutritional support is very important. Past foreign research papers it has been pointed out that most of these patients have feeding…
- Trial name
- NCT06335368
- Testing
- Nutrition and Growth Status
- Volunteers
- 70 people
- Sponsor
- National Taiwan University Hospital
Rett Syndrome
Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome
Rett syndrome is a neurodevelopmental disorder characterized by cognitive impairment, communication dysfunction, stereotypic movement disorder, and growth failure.
- Trial name
- NCT00990691
- Testing
- Administration of a high dose of desipramine, Administration of a low dose of desipramine
- Where
- France
- Volunteers
- 36 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
ASD
Mental Imagery Therapy for Autism (MITA) - an Early Intervention Computerized Language Training Program for Children With Autism
Mental Imagery Therapy for Autism (MITA) is a highly innovative adaptive language therapy application for children with autism. MITA exercises are limitless in variations, therefore avoiding routinization.
- Trial name
- MITA-RCT (NCT07326423)
- Testing
- Mental Imagery Therapy for Autism (MITA), General executive function
- Where
- Brazil
- Volunteers
- 60 people
- Sponsor
- ImagiRation, LLC
Danon Disease
The Natural History of Danon Disease
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2 gene.
- Trial name
- NCT03766386
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- University of California, San Diego
Mental Retardation, Developmental Delay Disorder
Atypical Neuroleptic Drugs in People With Mental Retardation/Developmental Delay
Psychiatric drugs are often used to treat behavioral symptoms of mental retardation/developmental delay (MR/DD). These drugs can cause serious side effects. Newer drugs may have decreased side effects.
- Trial name
- NCT00065273
- Testing
- risperidone, clozapine, olanzapine
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Knowledge, Behavior
Socialization To Enrich Participation & Support Sexuality for Young People With I/DD
The goal of this clinical trial is to test the effectiveness of a 6-week socialization and sex education curriculum (STEPS2) in young people (aged 16-27 years) with intellectual and developmental disabilities (I/DD), including…
- Trial name
- STEPS2 (NCT06231485)
- Testing
- STEPS2, STYH
- Where
- United States
- Volunteers
- 856 people, healthy volunteers welcome
- Sponsor
- City University of New York, School of Public Health
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
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
Rett Syndrome
The Findings of MR Imaging in Rett Syndrome
Introduction: Rett Syndrome is a neurodevelopmental disease that primarily affects girls. Clinically, patients are normal before six months to one and half years old, and then develop progressive severe problems with…
- Trial name
- NCT02903056
- Testing
- Rett Syndrome
- Where
- Taiwan
- Volunteers
- 100 people
- Sponsor
- National Taiwan University Hospital
Intellectual Disability, Rubinstein-Taybi Syndrome
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients.
- Conditions
- Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis, Congenital Heart Defect
- Trial name
- RID (NCT05696912)
- Testing
- Ex-vivo approach concerning 25 patients, In-vitro approach concerning 25 patients
- Where
- France
- Volunteers
- 50 people
- Sponsor
- University Hospital, Bordeaux
Fragile X Syndrome, Disruptive Behavior
Treatment of Disruptive Behaviors in Fragile X Syndrome
Disruptive behaviors such as self-injury, aggression, and property destruction pose significant health-related issues to children diagnosed with fragile X syndrome (FXS), impacting the child's quality of life and causing…
- Trial name
- NCT03510156
- Testing
- Behavior analytic treatment
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Stanford University
Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L
Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population.
- Conditions
- Intellectual Deficiency, Asymptomatic Carrier of the Mutation of the Gene MYT1L, Healthy Volunteers
- Trial name
- Rementips (NCT02980302)
- Testing
- Cutaneous biopsy
- Where
- France
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
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
Fragile X Syndrome
Investigation of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in Male Fragile X Syndrome Patients Aged 13-40
This study is to investigate the safety, tolerability and efficacy of Sulindac (HLX-0201) and Gaboxadol (HLX-0206) in males with Fragile X Syndrome (FXS) with confirmed full FMR1 mutation treated over a 10 week period in an…
- Trial name
- IMPACT-FXS (NCT04823052)
- Testing
- Sulindac (HLX-0201), dose strength 1, Sulindac (HLX-0201), dose strength 2, Gaboxadol (HLX-0206)
- Where
- 10 sites in United States, Australia
- Sponsor
- Healx Limited
Language Development Disorders, Down Syndrome
Strategies for Teaching Verbs
This study is designed to evaluate whether children with Down syndrome and children with typical development exhibit different levels of accuracy demonstrating novel verbs taught under three conditions: semantic cues (perform…
- Conditions
- Language Development Disorders, Down Syndrome, Child Language
- Trial name
- NCT03441685
- Testing
- Semantic cues (perform action), syntactic cues (sentence frame), or combined semantic and syntactic cues
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Down Syndrome, Recurrent B Acute Lymphoblastic Leukemia
A Study to Compare Blinatumomab Alone to Blinatumomab With Nivolumab in Patients Diagnosed With First Relapse B-Cell Acute Lymphoblastic Leukemia (B-ALL)
This phase II trial studies the effect of nivolumab in combination with blinatumomab compared to blinatumomab alone in treating patients with B-cell acute lymphoblastic leukemia (B-ALL) that has come back (relapsed).
- Trial name
- NCT04546399
- Testing
- 3-Dimensional Conformal Radiation Therapy, Asparaginase Erwinia chrysanthemi, Biospecimen Collection
- Where
- 227 sites in United States, Australia and 2 more
- Volunteers
- 461 people
- Sponsor
- National Cancer Institute (NCI)
Prader-Willi Syndrome
Exploring Stress and Coping Behaviors of the Major Carer Whose Children With Prader-Willi Syndrome
Ask the 4 carers of children with Prader-willi syndrome to disclose their experiences and difficulties for searching better management and intervention
- Trial name
- NCT00808548
- Testing
- counseling, emotional support, emotional support
- Where
- Taiwan
- Volunteers
- 8 people
- Sponsor
- Taichung Veterans General Hospital
Pyruvate Dehydrogenase Complex Deficiency
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency.
- Trial name
- NCT06340685
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Jirair Krikor Bedoyan
Classical Lissencephalies and Subcortical Band Heterotopias
Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
Malformations of cortical development (MCD) are a heterogenous group of brain malformations including lissencephaly, heterotopia and polymicrogyria.
- Trial name
- NCT05185414
- Testing
- Venipuncture and skin biopsy for RNA extraction
- Where
- Belgium
- Volunteers
- 50 people
- Sponsor
- Universitair Ziekenhuis Brussel
Autism Spectrum Disorder, Catatonia
Use of MRI and cTBS for Catatonia in Autism
Despite the significant morbidity and mortality associated with catatonia in autism, no diagnostic research has attempted to identify biomarkers for catatonia.
- Conditions
- Autism Spectrum Disorder, Catatonia, Intellectual Disability
- Trial name
- NCT06016764
- Testing
- Continuous Theta Burst in Transcranial Magnetic Stimulation
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Vanderbilt University Medical Center