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July 7, 2021

CRISPR technology offers a cutting-edge approach to gene-editing. New clinical findings from Intellia’s Phase 1 trial have demonstrated for the first time that CRISPR can be administered by infusion to target specific cells within the body.

Initial findings were shared at the Peripheral Nerve Society’s Annual Meeting last week that showed that this resulted in a durable knockdown of TTR after a single dose and was generally well tolerated in patients with hereditary transthyretin amyloidosis with polyneuropathy.

“These are the first ever clinical data suggesting that we can precisely edit target cells within the body to treat genetic disease with a single intravenous infusion of CRISPR. The interim results support our belief that NTLA-2001 has the potential to halt and reverse the devastating complications of ATTR amyloidosis with a single dose,” said Intellia President and Chief Executive Officer John Leonard, M.D

“It really is exciting,” says Dr. Julian Gillmore, who is leading the study at the University College London, Royal Free Hospital. “This has the potential to completely revolutionize the outcome for these patients who have lived with this disease in their family for many generations.” Gillmore says.

The study is still in the early stages and more patients will need to be enrolled, treated, and followed for a longer period to make sure the treatment is safe and to determine how much it is helping. The Phase 1 study is taking place in the U.K. and New Zealand and with plans to expand to additional international study locations.

These remarkable initial findings offer promise and hope to hATTR patients. Scientists are also optimistic about the potential for CRISPR therapy to revolutionize treatment options for additional types of amyloidosis. CRISPR has already been shown to help patients suffering from sickle cell disease and beta thalassemia and doctors are trying to use it to treat cancer and to restore vision to people blinded by a rare genetic disorder.

For more information on these new findings visit Intellia Press Release and NEJM article

For an overview of CRISPR technology, see our post below from November 2020 or read the Intellia CRISPR Fact Sheet



Nobel Prize-Winning Science applied to ATTR Amyloidosis

November 17, 2020

A groundbreaking study in ATTR amyloidosis, using novel CRISPR/Cas9, has dosed the first patient in the UK. This revolutionary technology brings us a step closer to the dream of curing inherited diseases like hereditary amyloidosis.

Intellia Therapeutics, Inc. announced earlier this month that the first patient has been dosed in their groundbreaking, phase 1 trial in the UK. The product, NTLA-2001, uses a novel technology developed by by Emmanuelle Charpentier and Jennifer Doudna, PhD, for which they were awarded the Nobel Prize in Chemistry last month.

CRISPR (pronounced “crisper”), which stands for Clustered Regularly Interspaced Short Palindromic Repeats, and Cas9 (CRISPR-associated 9 protein) can make permanent, precisely targeted changes in a patient’s genome, thereby repairing the disease-causing genetic mutation.

Your genome refers to your entire genetic makeup, or all your genes that contain the DNA coding for proteins. A mutation in a gene can cause disease, like TTR amyloidosis. CRISPR/Cas9 is designed to work in vivo, or inside the body, as a single course of treatment to address the underlying genetic mutation. The technology is described as “molecular scissors” that can delete a specific disease-causing mutation at an exact location in the DNA, and thereby modify the gene function. The technology is delivered intravenously (into a vein) and within a particle that is specifically designed to reach the liver. Once in the liver, CRISPR/Cas9 “deletes” the pathogenic mutation, and if this occurs in enough cells, it is expected to stop disease progression and symptoms.

Bacteria has a natural immune response that is similar to the mechanism of CRISPR/Cas9, where it cuts and destroys the DNA of a foreign invader, like a virus. Intellia is applying this process to human DNA, and hope that this is “the beginning of the end of genetic diseases.”
A one-time treatment would be an enormous breakthrough over current therapies which typically require lifelong administration. This could also be applied across countless genetic diseases, such as blood disorders and Huntington’s Disease. Clinical trials for the treatment, currently named NTLA-2001, are underway in the UK with the first patient dosed just earlier this month. This early phase 1 trial aims to demonstrate the drug’s safety and to identify an ideal dosage. Click here to read the full press release.

Watch this video from Intellia to learn more about this exciting technology:

Intellia’s President and CEO John Leonard, M.D. stated “Once we’ve assessed safety and established an optimal dose, we intend to rapidly initiate trials for the clinical manifestations of ATTR. NTLA-2001 may halt and reverse ATTR progression by producing a deeper, permanent TTR protein reduction for all patients – regardless of disease type – than the chronically administered treatments currently available.”
ARC created the My Amyloidosis Pathfinder (MAP) tool to help amyloidosis patients find treatment centers, enhanced care, and clinical trials that they may be eligible for. Create or update your profile today, and we will notify you when new clinical trials match with your demographics and presentation:

This is an exciting time for the amyloidosis community, as well as the entire rare genetic disease population. ARC remains committed to keeping you informed with the latest news, clinical trial information, and research. Be sure you are subscribed to our newsletter to receive communications.