Understanding Treatment Options

Types of Treatments and Therapies

The purpose of clinical trials is to figure out if a new drug, device, or treatment is safe and effective. Current research for Angelman syndrome concentrates on gene therapy.

Small Molecule Therapy

Small molecule therapies use drugs with a low molecular weight (< 900 daltons) to regulate cell activity or modify a disease process. Due to their size, small molecules can easily enter cells and quickly reach the target. They provide easy, straightforward delivery with few immune system interactions.

Antisense Oligonucleotide (ASO) Therapy

Antisense oligonucleotides (ASOs) are DNA molecules that interact with messenger RNA. ASO gene therapy “silences” a specific gene’s effect instead of repairing or replacing it. A clinical trial could use chemically engineered ASOs to target the molecule that causes Angelman syndrome and prevent it from working.

(Current Industry Sponsors: Biogen, Genetx, Ionis, Roche/Genentech)

Gene Therapy - Overview

Gene therapy is an experimental technique that uses genes, instead of drugs or surgery, to treat or prevent disease. The most popular approaches to gene therapy include:

Replacing a mutated gene that causes disease with a healthy copy of the same gene.
Inactivating, “knocking out,” or “knocking down” a mutated gene that is not working correctly.
Introducing a new gene into the body to help fight a disease.

Video Credit: American Society of Gene & Cell Therapy

Gene Editing

Genome (gene) editing gives researchers a way to change an organism’s DNA. Multiple methods of changing a specific part of genetic code exist, but they all act like a pair of scissors. The “scissors” cut a targeted spot of DNA then scientists remove, add, or replace that spot with something else.

CRISPR

The newest and most popular approach to gene editing is known as CRISPR-Cas9 which is short for clustered regularly interspaced short palindromic repeats - CRISPR-associated protein 9. This process of gene-editing originated in bacteria and was adapted to human DNA. After years of lab tests and research, CRISPR proved to be faster, cheaper, more accurate, and efficient than other gene-editing methods. Its success was celebrated but also led to ethical concerns related to how and when gene editing should be used.

Video Credit: Mayo Clinic

Repurposing Drugs for Rare Disease Treatment

The FDA Office of Orphan Products Development (OOPD) wants to speed up the evaluation of drugs, biologics, devices, or medical foods that show promise for the diagnosis and/or treatment of rare diseases or conditions. Their recommendation is to repurpose drugs already approved for other conditions and see if they work for rare diseases. To encourage this process, the FDA established the Rare Disease Repurposing Database (RDRD). Sponsors can use this resource to find approved drugs suitable for their research and quickly move to the testing phase. The faster timeline reduces costs and gets the product to the people who need it. To learn more about OOPD, visit the CDC's web page.