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.

current clinical trials

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

wilson disease (wd)

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.

chronic granulamatous disease (cgd)

Although the CGD study is not enrolling new participants right now, the positive results seen so far are encouraging. These results support the potential of prime editing, and we plan to continue working with regulatory agencies (health authorities) to move PM359 forward. For more information, please see “Prime Medicine Announces The New England Journal of Medicine Publication of PM359 Clinical Data for the Treatment of Chronic Granulomatous Disease.”

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.

Prime-0211 Pre-screening Study

A research study for adults living with Wilson disease

ClinicalTrials.gov ID: NCT07226622

 

What is this study about?

This study is 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’s the purpose of this study?

This is a pre-screening study, which means it’s not testing a treatment yet. Instead, it’s gathering information from people with WD to help design future studies. 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 is gene editing?

Gene editing is a way scientists can fix or change genes that aren’t working properly. In WD, a gene called ATP7B doesn’t work the way it should, which causes copper to build up. Prime Medicine is developing a treatment that may fix this gene in liver cells using a method called Prime Editing.

This future treatment is still being studied. If it works, it could be a one-time medicine that helps the body control copper better and potentially removes the need for lifelong medication.

 

What Is Prime Medicine Working On?

Prime Medicine is developing a new gene editing technology called Prime Editing. It is designed to search for and replace specific changes in a person’s DNA, like correcting a mistake or typo in a document.

For WD, the goal is to fix two common genetic changes in the ATP7B gene (primarily p.H1069Q, potentially followed by p.R778L). The treatment is designed to go directly to liver cells, where the corrected gene could stay in place and be passed on as the liver naturally heals itself.

The hope is that this could become a long-lasting, one-time treatment that helps the body manage copper levels and potentially removes the need for daily medications.

The Prime-0211 Pre-screening Study does not include treatment. It’s designed to learn from people with WD who may be interested in joining a future study that will test this potential therapy.

 

What happens in this pre-screening study?

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

  • • Give permission for the team to review your medical records
  • • Give a blood sample
  • • Possibly have genetic testing to confirm changes in your ATP7B gene
  • • Fill out a survey about your health, experience with WD, and your interest in a future gene editing study

You won’t receive any treatment in this study, and joining doesn’t mean you have to take part in 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) 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 either of the two common ATP7B changes called p.H1069Q or p.R778L.

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

 

What is the study looking at?

  • • Blood test results: A single blood sample will be taken to measure a protein called ceruloplasmin, which is important in Wilson Disease, and to analyze your ATP7B gene.
  • • Medical history: Doctors will review participants’ medical records to gather information about past liver, neurological, and mental health issues related to Wilson Disease.
  • • Patient experiences and attitudes: Participants will fill out a survey about their daily life with Wilson Disease, how they manage treatment and diet, and whether they would be interested in joining a future gene‑editing study.

 

Why does this information matter?

  • • The survey helps researchers learn about interest and attitudes toward gene-editing for Wilson Disease.
  • • The blood test for ceruloplasmin helps researchers understand values across different people with Wilson Disease.
  • • The genotype information helps give insight into how many patients may be potentially eligible for a future gene-editing therapy.

 

Timeframe

  • All of the information collected during the study, which lasts about 90 days for each participant.

 

What Else Should I Know?

  • • Joining is completely your choice
  • • You can leave the study any time
  • • You won’t be paid, but travel costs will be reimbursed
  • • All study-related tests are free
  • • The study has 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 wdtrial@primemedicine.com. Asking questions doesn’t mean you have to join. It’s just a way to get more information.