our commitment

Prime Medicine is committed to transforming the lives of patients with debilitating diseases through the application of our Prime Editing platform and technology. We believe that strong partnerships with patient communities and advocacy organizations are essential to achieving our mission. We strive to:

  • Learn directly from patients and caregivers to better understand the patient journey
  • Communicate in a transparent and timely way about our programs to patient communities
  • Work collaboratively with advocacy organizations to identify and pursue common goals

Through these guiding principles, we aim to deliver on the promise of one-time, potentially curative therapies to address genetic diseases.

about our programs

About Our Programs

about wilson disease

Wilson disease is a rare inherited condition that causes the body to store too much copper. Copper is a mineral we take in from the food we eat that we all need in small amounts. But when the body cannot remove the extra copper, it builds up, mainly in the liver and brain, and can lead to serious health problems.

Wilson disease is caused by changes in a gene called ATP7B, which normally helps move the copper around the body and get rid of copper. The condition affects about 1 in 30,000 people, and most people with the condition are diagnosed in childhood, the teen years, or early adulthood.

As copper builds up over time, symptoms can vary widely from person to person. Some people first develop signs of liver problems, such as extreme tiredness, yellowing of the skin or eyes (jaundice), or swelling in the legs or abdomen. Others may notice neurological symptoms like tremors, difficulty speaking or walking, or changes in mood or behavior. Many people also develop a golden-brown ring in the eye, called a Kayser-Fleischer ring, which can help doctors confirm the diagnosis.

Without diagnosis or treatment, Wilson disease can become very serious and is life-threatening. Liver failure and severe neurological problems are the most common when the disease is missed or isn’t treated. With early diagnosis and treatments that lower copper levels, many people can manage symptoms and prevent long-term problems, but most will need lifelong therapy. Current treatment involves taking pills every day for life, and in the most serious cases, a liver transplant.


about chronic granulomatous disease

Chronic Granulomatous Disease (CGD) is a rare inherited hematologic disorder characterized by susceptibility to severe, difficult-to-treat infections, and inflammatory/autoimmune complications. CGD is caused by mutations in any one of the subunits comprising the NADPH oxidase complex, which is a group of proteins found in immune cells that work together to kill pathogens such as bacteria and fungi. CGD causative mutations are estimated to occur in between one in 100,000 and one in 200,000 births in the United States, and most children are diagnosed within the first three years of life. One type of CGD is p47phox CGD, which occurs when a person has mutations in both copies of the NCF1 gene.

Beginning in childhood, patients with CGD develop infections from a range of both typical and unusual bacteria, fungi and mycobacteria. These infections may present in various organ systems, and protracted infections can lead to long-term organ damage and failure. In addition, patients have non-infectious inflammatory disease, most commonly presenting as inflammatory bowel disease, soft tissue granulomas, and strictures of the urinary or digestive tract.

Undiagnosed or untreated, the infectious manifestations of CGD are rapidly fatal, with refractory or antimicrobial resistant infection the leading cause of mortality.


about alpha-1 antitrypsin deficiency

Alpha-1 Antitrypsin Deficiency (AATD) is a rare inherited condition in which the liver produces incorrect or insufficient amounts of a protein called alpha-1 antitrypsin (AAT). AAT is made in the liver and helps protect the lungs from inflammation and irritating substances we breathe in. When there isn’t enough working AAT, both the lungs and liver may be more easily damaged, which can lead to serious health problems.

AAT deficiency is caused by changes in the SERPINA1 gene, which provides instructions for making AAT. These gene changes are also called mutations. In the United States, about 100,000 people are affected by this condition, and for most, symptoms typically begin between the ages of 20 and 50.

Symptoms can vary widely from person to person, and not all people with AATD have symptoms.

Lung-related symptoms may include:

  • • shortness of breath

  • • wheezing

  • • chronic cough

  • • extreme tiredness

Liver-related symptoms may include:

  • • yellowing of the skin or eyes (jaundice)

  • • swelling in the legs or abdomen

  • • itchy skin

Without diagnosis or treatment, AATD can become serious and even life-threatening. Chronic obstructive pulmonary disease (COPD), which can make breathing difficult, and a liver disease called cirrhosis are common health problems associated with AAT deficiency.

Current treatment options include:

  • • augmentation therapy (raises the level of AAT in the lungs and blood using AAT collected from the plasma of healthy donors)

  • • lung or liver transplants

Lifestyle choices, like avoiding smoking, can also help manage symptoms. However, these treatments and self-care strategies have limitations and may not fully prevent the disease from progressing.

current clinical trials

Clinical trials are designed to help determine whether an investigational therapy or treatment is safe and effective.

Prime-0211 Pre-screening Study (ClinicalTrials.gov ID: NCT07226622) is for adults with Wilson disease, a rare condition caused by copper buildup. It collects health information and patient experiences to guide future gene editing studies. Find out more information here.

We are currently enrolling patients in Prime-0101, a Phase 1/2 clinical trial evaluating the safety and efficacy of PM359 in patients with p47phox autosomal recessive CGD. Learn more about Prime-0101 here or visit clinicaltrials.gov. If you have questions or may be interested in participating in our Prime-101 clinical trial, please email us at [email protected] for more information.

expanded access

Expanded access, or compassionate use, enables patients with serious or immediately life-threatening conditions to gain access to investigational therapies outside of clinical trials. We believe that participation in our clinical trials is currently the most appropriate way to access our investigational therapies. Prime Medicine does not provide access to investigational therapies outside of clinical trials at this time.

Prime Medicine’s investigative therapies are not approved by the FDA or by any other country’s regulatory authority, and their safety and efficacy are still being studied in clinical trials.

external resources

These resources are for informational purposes only and do not represent an endorsement by Prime Medicine of any individual organization or viewpoint. This list is not exhaustive, and the resources within should not be construed as medical advice.

American Society of Gene + Cell Therapy Clinical Trials Finder: A curated list of gene and cell therapy clinical trials, updated daily and sourced from clinicaltrials.gov.

Chronic Granulomatous Disease Association of America: An independent, nonprofit organization with the world’s largest community of CGD patients.

Global Genes: A non-profit organization dedicated to eliminating the burdens and challenges of rare diseases for patients and families globally.

Genetic and Rare Diseases Information Center (GARD): A program of the National Center for Advancing Translational Sciences. It provides the public with access to current, reliable information about rare or genetic diseases.

National Organization for Rare Disorders (NORD): NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives.

Wilson disease 

Prime-0211 and Prime-0201 

What are these studies about? 

These studies are for people living with Wilson disease (WD), a rare condition where copper builds up in the body and can damage the liver, brain, and other organs. Prime Medicine is studying new ways to treat WD using gene editing. 

What is Prime Editing? 

Prime Editing is a gene-editing technology designed to search for and replace specific changes in a person’s DNA, like correcting a typo in a document. The goal is to help fix genes that are not working properly.   

In WD, a gene called ATP7B doesn’t work the way it should, which causes copper to build up. Using Prime Editing, Prime Medicine is developing a one-time treatment that may fix this gene in liver cells, while reducing the chance of unwanted changes to the DNA. 

Prime Medicine currently has two Wilson disease studies. One is a pre-screening study (Prime-0211) that helps researchers prepare for future research. The Prime-0211 pre-screening study does not include treatment. The other study (Prime-0201) is a clinical study testing PM577a, an investigational (or experimental) Prime Editing therapy. The Prime-0201 study is a treatment study. Participants who join the study will receive the study treatment, PM577a. More information about both studies is provided below.

Prime-0211 – Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial 

ClinicalTrials.gov ID: NCT07226622 

 

What is the purpose of the study? 

The Prime-0211 pre-screening study is gathering information from people with WD to help design future studies. The study does not test a treatment. The goal is to better understand: 

  • •How people manage WD in daily life. 
  • •What matters most when deciding to join a research study involving gene editing. 

 

What happens in this pre-screening study? 

If you join, you will be in the study for about 90 days. During that time, you will: 

  • •Give permission for the team to review your medical records. 
  • •Fill out a survey about your health, experience with WD, and your interest in a future gene editing study. 
  • •Give a blood sample to measure a protein called ceruloplasmin, which is important in WD. 
  • •Possibly have genetic testing to confirm changes in your ATP7B gene. 
  • •You will not receive any treatment in this study. Joining Prime-0211 does not mean you have to take part in any future studies. 

 

Who can join the Prime-0211 study? 

You may be able to join if you: 

  • •Are 18 or older. 
  • •Have been diagnosed with Wilson disease. 
  • •Have a specific gene mutation (change) in ATP7B called p.H1069Q or p.R778L (if you’ve already had genetic testing done).  

 

You are not able to join if you: 

  • •Have had gene therapy before. 
  • •Have had a liver transplant or are on a transplant waiting list. 
  • •Don’t have the required change in your ATP7B gene. 

 

For more information, please see Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical Trial on ClinicalTrials.gov. 

 

Prime-0201 – A Study of the Safety and Efficacy of Prime Editing (PM577) in Participants With Wilson Disease (WD) (PM577a) 

ClinicalTrials.gov ID: NCT07748403 

 

What is the study about? 

PM577a is an investigational Prime Editing therapy that is designed to address the genetic cause of Wilson disease. Researchers are studying whether PM577a could become a one-time treatment for Wilson disease. Participants who join the study will receive the study treatment, PM577a. 

 

What is the purpose of the study? 

  • •Learn about the safety of PM577a. 
  • •Understand how PM577a works in the body. 
  • •See whether PM577a may help address the genetic cause of Wilson disease. 
  • •Learn about different dose levels to help guide future research. 

 

What happens during the Prime-0201 study? 

  • •Screening tests to determine if you are eligible to participate. 
  • •A one-time intravenous (IV) infusion of PM577a. 
  • •A short hospital stay after treatment so the study team can monitor participants closely. 
  • •Regular study visits, blood tests, and health assessments for about one year. 

 

Who can join the Prime-0201 study? 

You may be able to join if you: 

  • •Are 18 years of age or older (the study will begin with adults aged 18 and older and may later include adolescents aged 12 to 17 years) 
  • •Have been diagnosed with Wilson disease. 
  • •Are currently taking medication for Wilson disease. 
  • •Have the p.H1069Q mutation (change) in the ATP7B gene. 

 

You are not able to join if you: 

  • •Have had gene therapy before. 
  • •Have had a liver transplant or are on a transplant waiting list. 
  • •Don’t have the required p.H1069Q change in your ATP7B gene.  
  • •Are pregnant or planning to become pregnant during the study. 

 

What else should I know about these studies? 

  • •Joining is completely your choice. 
  • •You can leave the study any time. 
  • •You will not be paid but travel costs will be reimbursed. 
  • •Study-related tests are provided at no cost. 
  • •Both studies have been reviewed by an ethics committee (Institutional Review Board) to help protect your rights and safety. 

  

Questions? 

If you or someone you care for has Wilson disease and wants to learn more, reach out to [email protected]. Asking questions does not mean you have to join. It is just a way to get more information.