Pharma Updates 2020

Quick Overview

• ASF Virtualpalooza is a two-week virtual educational session for learning from pharmaceutical industry experts.
• Biogen is developing an assay to detect UBE3A protein in the cerebrospinal fluid of Angelman Syndrome patients and is also working on restoring UBE3A protein expression.
• Roche is developing a treatment for Angelman Syndrome and conducting an observational study called FREESIAS to collect data on biomarkers and outcomes in Angelman Syndrome patients.
• Ionis is developing an antisense oligonucleotide treatment for Angelman Syndrome with clinical trials planned for the second half of 2021.
• Neuren is developing a drug, NNZ-2591, for Angelman Syndrome that restores the balance of synaptic function and improves signalling between neurons.
• OVID Therapeutics is developing OV101 for Angelman Syndrome, a GABA agonist that restores tonic inhibition.
• PTC Therapeutics and StrideBio are both developing gene therapy for Angelman Syndrome using AAV vectors for gene delivery.

ASF Virtualpalooza: Bringing Pharmaceutical Industry Experts to Your Home

ASF Virtualpalooza is a two-week virtual educational session that allows individuals to learn from experts in the pharmaceutical industry from the comfort of their own homes.

Biogen’s Assay for Angelman Syndrome

Biogen is currently working on developing an assay to detect UBE3A protein in the cerebrospinal fluid of Angelman Syndrome patients. Angelman Syndrome is caused by a deficiency of ubiquitin protein, base E3A.

Restoring UBE3A Protein Expression

Biogen is developing antisense oligonucleotides to knock down the UBE3A antisense transcript and restore UBE3A protein expression. They have been using immunoassay platforms and liquid chromatography mass spec to measure UBE3A protein, with promising results.

CSF Collection Study

Biogen is sponsoring a CSF collection study to collect samples from Angelman Syndrome patients. This study aims to further develop the assay for detecting UBE3A protein in the cerebrospinal fluid.

Roche’s Treatment Development

Roche is also working on developing a treatment for Angelman Syndrome using antisense oligonucleotides. They have identified a lead compound with a better profile than their original drug and plan to start clinical trials in the second half of 2021.

Observational Study by Roche

Roche is conducting an observational study called FREESIAS to collect data on biomarkers and outcomes in Angelman Syndrome patients.

Ionis’ Antisense Oligonucleotide Treatment

Ionis is another company working on developing an antisense oligonucleotide treatment for Angelman Syndrome. They have identified several lead candidates and are currently testing them in preclinical studies. Clinical trials with their lead candidate are planned for the second half of 2021.

Neuren’s Drug Development Pipeline

Neuren is a specialty pharmaceutical company focused on rare and orphan neurodevelopmental disorders. Their drug development pipeline includes compounds related to insulin-like growth factor or IGF-1. One of their compounds, NNZ-2591, has shown promise in correcting synaptic dysfunction in disorders like Angelman Syndrome.

Benefits of NNZ-2591

NNZ-2591 restores the balance of synaptic function, improves signaling between neurons, mitigates against inflammatory signaling, and increases the availability of IGF-1. It is an orally administered liquid medication with high bioavailability and the ability to cross the blood-brain barrier.

Impaired Signaling in Angelman Syndrome

Impaired signaling between brain cells contributes to symptoms in Angelman Syndrome. NNZ-2591 has shown to rescue behavioral symptoms in a mouse model of Angelman Syndrome.

Clinical Development of NNZ-2591

The clinical development program for NNZ-2591 is progressing. A Phase 1 trial in healthy volunteers is ongoing, and a Phase 2 trial in Angelman Syndrome is planned for 2021. The Phase 2 trial will evaluate efficacy and determine the optimal dose.

OV101 by OVID Therapeutics

OVID Therapeutics is developing OV101 for Angelman Syndrome. OV101 is a GABA agonist that restores tonic inhibition. The STARS study showed the safety and efficacy of OV101 in Angelman Syndrome.

Assessing Quality of Life

The EQ-5D-5L tool was used to assess the quality of life in the STARS study. Caregivers identified communication and behavior as the most burdensome domains in Angelman Syndrome.

Gene Therapy Development by PTC Therapeutics

PTC Therapeutics is developing gene therapy for Angelman Syndrome using AAV vectors for gene delivery. They are working on identifying the optimal expression cassette and capsids.

StrideBio’s AAV Gene Therapy

StrideBio is also developing AAV gene therapy for Angelman Syndrome. Their platform, Strive, aims to improve AAV vectors. They are currently in the research and discovery phase and working on identifying the optimal expression cassette and capsids.

Commitment to the Angelman Community

StrideBio is committed to working with the Angelman community. They plan to conduct preclinical studies and submit an IND (Investigational New Drug) application.