Trials & Studies in AS

• Sponsor: FAST - AUS

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: All

• NCT: NCT05293184

Recruitment / Coordinator Contact

• curator@angelmanregistry.info

Description

The Global Angelman Syndrome Registry is an online patient organization driven registry to collect information about the natural history of children and adults with Angelman Syndrome. The registry will facilitate 1) recruitment for clinical trials into therapies and interventions to benefit participants with Angelman Syndrome and their families, and 2) advancement of research and best standards of care for Angelman Syndrome. (pulled from CT.gov)

• The registry is currently available in English, Spanish, Traditional Chinese and Italian.

• Sponsor: Boston Children's Hospital

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages:All

• NCT: NCT04507997

Recruitment / Coordinator Contact

• Batsheva.Friedman@childrens.harvard.edu, asnaturalhistorystudy@ childrens.harvard.edu

Description

The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials. (pulled from CT.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: University of Oxford

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: All

• NCT: NCT05100810

Recruitment / Coordinator Contact

• corinne.betts@paediatrics.ox.ac.uk, theodora.markati@paediatrics.ox.ac.uk

Description

The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the healthcare system for forthcoming clinical trials. (pulled from CT.gov)

Site Locations

• Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: Centre Hospitalier Universitaire de Liege

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: All

• NCT: NCT06229769

Recruitment / Coordinator Contact

• Laura Buscemi - 43215584 ext +32 | laura.buscemi@citadelle.be

Description

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. (pulled from clinicaltrials.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: Puerta de Hierro University Hospital

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: All

• NCT: NCT06115109

Recruitment / Coordinator Contact

• Belen Ruiz Antoran, MD, Ph +34911917479 | bruizantoran@gmail.com

Description

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. (pulled from clinicaltrials.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: IRCCS Eugenio Medea

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: All

• NCT: NCT06337383

Recruitment / Coordinator Contact

• Martina Baggio: +39 340 802 1282 | martina.baggio@lanostrafamiglia.it

Description

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. (pulled from clinicaltrials.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: IRCCS Eugenio Medea

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: 6-75 years old

• NCT: NCT06353620

Recruitment / Coordinator Contact

• Gian Marco Duma, PhD +39 0438414248 | gianmarco.duma@lanostrafamiglia.it

Description

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) (pulled from clinicaltrials.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: University Hospital, Toulouse

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: 3-50 years old

• NCT: NCT04768803

Recruitment / Coordinator Contact

• Nadege Algans: 0561777204 | algans.n@chu-toulouse.fr

Description

A significantly higher proportion of patients with rare diseases (RD) with intellectual disability (ID), present hyperphagia, overweight or obesity, compared to the general population. Prader-Willi syndrome is the only genetic obesity identified to date associated with hyperghrelinemia, while ghrelin levels are lower than in controls in other situations of obesity.

The aim of the study is to find out whether the levels of ghrelin, which are abnormally high in PWS throughout life, are also high in these RD when people have hyperphagia and/or overweight. (pulled from clinicaltrials.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

• FAST Pillar: Pillar 4

• Status: Recruiting

• Genotype: All

• Ages: All

• NCT: NCT05945576

Recruitment / Coordinator Contact

• Agnes Linglart: +33 1 4521 7853 | agnes.linglart@aphp.fr

Description

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?

(pulled from clinicaltrials.gov)

Site Locations

•  Visit clinicaltrials.gov for recruiting status by site.

• Sponsor: Assistance Publique - Hôpitaux de Paris

• FAST Pillar: Pillar 4

• Status: Not Yet Recruiting

• Genotype: All

• Ages: 3-17 years old

• NCT: NCT06737718

Recruitment / Coordinator Contact

• Nathalie MD, PhD Boddaert - nathalie.boddaert@aphp.fr

Description

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments.

While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials.

Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients. (pulled from www.clinicaltrials.gov)