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Angelman Syndrome clinical trials

View clinical trials related to Angelman Syndrome.

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NCT ID: NCT06415344 Not yet recruiting - Angelman Syndrome Clinical Trials

Long-term Extension of GTX-102 in Angelman Syndrome

Start date: August 2024
Phase: Phase 3
Study type: Interventional

The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)

NCT ID: NCT06353620 Recruiting - Epilepsy Clinical Trials

Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy

Start date: February 13, 2024
Phase:
Study type: Observational

Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Indeed, this has helped to identify functionally altered areas in patients with temporal epilepsy by simply using the resting EEG signal. Furthermore, it has been seen that the propagation of neuronal avalanches (VNs) correlates with the morphological organization of the cerebral cortex. Therefore, NAs represent a measure with direct utility for studying functional reorganization pre and post drug/surgical treatment. In addition, the aperiodic portion of the signal may represent a noninvasive measure of the excitation/inhibition relationship, which is known of being altered both in epilepsy and in some rare neurodevelopmental syndromes (example: Angelman and Dup15q)

NCT ID: NCT06337383 Recruiting - Angelman Syndrome Clinical Trials

Study of the Prevalence of Autistic Traits in Angelman Syndrome

Start date: March 15, 2022
Phase:
Study type: Observational

The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome. The main questions it aims to answer are: - which clinical variables differentiate AS patients with and without Autism Spectrum Disorder between genetics, epilepsy, pharmacotherapy, behavioural problems, parenting style and parents' perceived stress. - which clinical variables differentiate parenting styles and levels of perceived stress. Data from neuropsychological, speech therapy and physiotherapeutic assessments are collected during regular clinical follow-ups, regarding: cognitive development ("Bayely Scales of Infant Development-III", Cognitive Scale) and adaptive behaviour; Autism and Autism Spectrum Disorder ("Autism Diagnostic Observational Schedule-2"); parental stress and parenting styles; social-communicative skills; motor development.

NCT ID: NCT06229769 Recruiting - Angelman Syndrome Clinical Trials

Natural History Study for Patients With Angelman Syndrome

NatHisAngelman
Start date: October 10, 2021
Phase:
Study type: Observational

This study is a 4-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 1-year recruitment phase, a 2-year follow-up and a year to analyze the collected data. The investigators plan to include 10 patients with a semi-annual follow-up for 2 years. The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.

NCT ID: NCT06139172 Enrolling by invitation - Fragile X Syndrome Clinical Trials

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Start date: September 15, 2023
Phase: N/A
Study type: Interventional

The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders. Participants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.

NCT ID: NCT06115109 Recruiting - Angelman Syndrome Clinical Trials

Angelman Natural History Study - FAST Spain

Start date: December 1, 2023
Phase:
Study type: Observational

The goal of this study is to conduct a prospective, longitudinal study to observe the natural clinical progression and disease outcome of AS patients receiving no disease-modified intervention, with the purpose of obtaining data that will be useful for future clinical trials.

NCT ID: NCT05945576 Recruiting - Clinical trials for Prader-Willi Syndrome

IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

IDMet
Start date: March 10, 2017
Phase:
Study type: Observational

The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center. The main questions it aims to answer are: - Can we identify common metabolic profiles for all imprinted diseases? - Which imprinting disorders have an impact on the metabolic profiles of IDs? - Which are the metabolic risks associated to IDs? - Can we use the metabolic profiles for the clinical classification and prognosis of IDs? - Are there common therapeutic approaches for all IDs?

NCT ID: NCT05783791 Completed - Clinical trials for Prader-Willi Syndrome

Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome

Start date: April 20, 2023
Phase:
Study type: Observational

The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and validating a screening test for AS and PWS.

NCT ID: NCT05637697 Completed - Angelman Syndrome Clinical Trials

Angelman Syndrome Video Assessment (ASVA) Source Material Study

ASVA SMS
Start date: August 31, 2021
Phase:
Study type: Observational

This is a longitudinal, observational, nonrandomized, fully remote study enrolling approximately 55 participant-caregiver dyads. The study includes no treatments or interventions, and participants will not be asked to change their current treatments. The objective of this study is to gather sufficient source material videos to develop a scoring system for ASVA and to perform preliminary validation of that scoring system.

NCT ID: NCT05630066 Recruiting - Angelman Syndrome Clinical Trials

Study to Investigate the Pharmacokinetics and Safety and to Provide Proof of Mechanism of Alogabat in Children and Adolescents Aged 5-17 Years With Angelman Syndrome (AS) With Deletion Genotype.

Aldebaran
Start date: July 27, 2023
Phase: Phase 2
Study type: Interventional

This is a two-part, Phase IIa, multicenter, 12-week, open-label study. Up to 56 participants with deletion Angelman Syndrome (AS) aged 5-17 years (inclusive) will be enrolled in the study.