Angelman Syndrome

A Phase IIa Multicenter Study to Investigate the Pharmacokinetics, Safety and Pharmacodynamic Effects of Alogabat in Children and Adolescents With Angelman Syndrome Deletion Genotype

The ALDEBARAN trial will confirm age-adjusted pediatric dose levels for alogabat, a small molecule, selective, positive allosteric modulator of GABAA α5 receptor, in individuals aged 5 to 17 years with Angelman syndrome deletion genotype. The trial will also establish the proof of mechanism for alogabat by evaluating its effects on EEG beta-band power, a biomarker of GABAA receptor function, which is altered in individuals with Angelman syndrome deletion genotype.

Using Exit Interview Methodology to Understand Experiences and Meaningful Change in Angelman Syndrome

The TANGELO trial examined the tolerability and safety of the locked-nucleic acid-modified antisense oligonucleotide rugonersen (RO7248824) in patients aged 1 to 12 years with Angelman syndrome. The methodology of exit interviews conducted with patients’ caregivers to evaluate what constitutes a meaningful change in the condition is described.

A Prospective, Longitudinal, Observational Clinical Trial in Individuals with Angelman syndrome to Enable Endpoint Development for Interventional Trials (FREESIAS)

Angelman syndrome (AS) is a neurodevelopmental disorder, for which there are currently no established endpoints to holistically measure meaningful change in clinical trials. The FREESIAS study aimed to identify potential endpoints by following individuals with AS and a number of typically developing children for one year. A wide range of clinical outcome assessments, digital health technologies and overnight electroencephalography were tested across key AS characteristics, performed at home and in clinic.

A Prospective, Longitudinal, Observational Study in Individuals With Angelman Syndrome to Enable Endpoint Development for Interventional Clinical Trials (FREESIAS)

Angelman syndrome (AS) is a neurodevelopmental disorder, for which there are currently no established endpoints to holistically measure meaningful change in clinical trials. The FREESIAS study aimed to identify potential endpoints by following individuals with AS and a number of typically developing children for one year. A wide range of clinical outcome assessments, digital health technologies and overnight electroencephalography were tested across key AS characteristics, performed at home and in clinic.

Developing Angelman Syndrome-Specific Clinician-Reported and Caregiver-Reported Measures to Support Holistic, Patient-Centered Drug Development

Valid and reliable measures reporting key symptoms and functional impairments of Angelman syndrome (AS) are required to support the development of patient-centered therapies. Here, we describe the development of disease-specific measures for use in clinical trials which incorporate the most important symptoms and functional impairments for the treatment of AS.

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Angelman Syndrome

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