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Familial Chylomicronemia Syndrome

Disease/Condition(s): Familial Chylomicronemia Syndrome (FCS), hyperlipoproteinemia
What is Familial Chylomicronemia Syndrome?

Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder characterized by the inability to properly break down fats, specifically triglycerides, due to a deficiency or malfunction of the enzyme lipoprotein lipase (LPL). This enzyme is crucial for the metabolism of triglycerides, which are a type of fat transported in the blood by molecules called chylomicrons. The prevalence of FCS is estimated to be very low, affecting about 1 in 1,000,000 people worldwide.

Familial Chylomicronemia Syndrome Sponsored Testing Program Overview:

Familial Chylomicronemia Syndrome (FCS) – FCS Seek

HTG-Select

HTG-Select testing offered at no charge
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What is the role of testing for Familial Chylomicronemia Syndrome?

Ambry Genetics’ HTG-Select panel is a 6-gene test aimed at identifying the underlying genetic cause of hypertriglyceridemia in eligible patients. This includes disorders such as Familial Chylomicronemia Syndrome or other clinically associated conditions. Genes included are associated with one or more key clinical symptoms, including: severely high triglyceride levels, acute bouts of pancreatitis, severe abdominal pain, skin xanthomas, memory loss, and milky appearance of the blood/veins.

Establishing an underlying molecular cause is a critical step in providing accurate diagnosis, prognosis, genetic counseling, and disease management.

What is the Program?

Arrowhead Pharmaceuticals is partnering with Ambry Genetics to provide a sponsored, no-cost genetic testing program (FCS Seek) for patients who have a clinical history of severe hypertriglyceridemia. Patients who are eligible for this program may have an underlying genetic cause of their complications, such as Familial Chylomicronemia Syndrome or hyperlipoproteinemia.

Program Eligibility

This program is available to individuals with all the following:

  • 17 years of age and older
  • Fasting triglyceride level of >750 mg/dL [> 8.48 mmol/L] in the past 12 months
  • No Prior genetic testing for FCS

Testing

How to participate

Choose between the following testing options:

Ambry Genetics

HTG-Select

Genes Evaluated: APOA5, APOC2, GPD1, GPIHBP1, LMF1, LPL

How To Order

Use the provided Ambry Genetics’ Test Kit to collect the patient’s blood, buccal, or saliva sample after reviewing the specimen and shipping requirements. Submit the kit and completed TRF using the instructions provided in the kit.

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FAQs

Program Information

What is Familial Chylomicronemia Syndrome (FCS)?

Familial chylomicronemia syndrome (FCS) is a severe and ultra rare genetic disease, with a prevalence of approximately 1 in 1,000,000. Patients with FCS are unable to effectively breakdown dietary fats resulting in severe elevations in triglycerides in the blood, which can cause serious signs and symptoms including acute pancreatitis (which can be fatal), chronic daily abdominal pain, type 2 diabetes mellitus, hepatic steatosis, and cognitive issues (aka “brain fog”). FCS is often controlled by severely limiting dietary fat intake, which can reduce the risk of pancreatitis. Pancreatitis is a major life-threatening complication of FCS and can lead to other life-threatening conditions such as sepsis, acute respiratory distress syndrome, hypovolemic shock, and renal failure.

Additional resources for learning more about Familial Chylomicronemia Syndrome:

  • Foundation of the National Lipid Association: https://www.learnyourlipids.com/
  • Living with FCS: https://www.livingwithfcs.org/
  • National Pancreas Foundation: https://pancreasfoundation.org/

What is HTG-Select?

Ambry Genetics’ HTG-Select panel is a 6-gene test aimed at identifying the underlying genetic cause of hypertriglyceridemia in eligible patients. This includes disorders such as Familial Chylomicronemia Syndrome or other clinically associated conditions. Genes included are associated with one or more key clinical symptoms, including: severely high triglyceride levels, acute bouts of pancreatitis, severe abdominal pain, skin xanthomas, memory loss, and milky appearance of the blood/veins.

Establishing an underlying molecular cause is a critical step in providing accurate diagnosis, prognosis, genetic counseling, and disease management.

What can I learn/what are the limitations of the genetic test conducted by Ambry?

Genetic testing is the process of examining our genetic makeup to detect disease-causing mutations. Ambry’s HTG-Select test is a 6-gene panel that analyzes genes associated with FCS. The test can be an effective way of identifying at-risk individuals or clarifying risks to family members, however, genetic testing cannot predict onset or severity of disease.

Why is Arrowhead sponsoring no-cost testing for eligible patients?

As an RNAi focused pharmaceutical company, Arrowhead understands the important role genes can play in rare diseases such as hypertriglyceridemia and FCS. Accessing confidential, trusted, affordable, and timely genetic testing and counseling services can be a challenge for patients and providers for a variety of reasons. By providing no-cost genetic testing, Arrowhead hopes to further demonstrate its ongoing commitment to engagement with the FCS patient and caregiver communities as studies continue to find effective treatments and broaden awareness of this rare, but impactful disease.

What can I learn/what are the limitations of the genetic test conducted by Ambry?

Genetic testing is the process of examining our genetic makeup to detect disease-causing mutations. Ambry’s HTG-Select test is a 6-gene panel that analyzes genes associated with FCS. The test can be an effective way of identifying at-risk individuals or clarifying risks to family members, however, genetic testing cannot predict onset or severity of disease.

What are the qualifications of the genetic experts at Genome Medical, and why should I consult with one?

Genome Medical’s national network of genetic experts includes both medical geneticists and genetic counselors. Your consultation will most likely be with a genetic counselor, who is a medical provider specially trained to understand the complexities of genetic tests and how to interpret an individual’s unique results. In certain cases, you may also work with a medical geneticist, a physician trained in general medicine, genetic diagnosis and the treatment of patients with genetic disorders. Genetic counselors start by learning what important health questions you have, assessing your risk for disorders of interest and then reviewing how genetic testing may help you answer them. Their recommendations are tailored to address the issues that are most important to you. If you have questions about your results, genetic counselors are there to explain what it means and work with you to understand best next steps and develop a care plan. You can learn more about genetic counselors here.

How will my privacy be protected?

The results stored in your health record are protected by a health information privacy law known as Health Information Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA) protects patients from genetic discrimination.

Why does the registration ask me if I have Medicare coverage?

The Medicare coverage question is currently required as part of the registration process. If a participant selects they are covered by Medicare, they will be required to complete an ABN form. Medicare will not be billed and both the genetic counseling visit and testing are 100% covered. Patients that elect to participate in this program will not be financially responsible.

More Information About This Program

  • Patients that meet the eligibility criteria may receive one test at no cost.
  • No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
  • The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
  • Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
  • The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
  • Program is not valid where prohibited by law.
  • No identifiable patient data will be shared with sponsor as part of this program.

About Arrowhead Pharmaceuticals

Arrowhead Pharmaceuticals logo

Arrowhead Pharmaceuticals develops medicines that treat intractable diseases by silencing the genes that cause them. Using a broad portfolio of RNA chemistries and efficient modes of delivery, Arrowhead therapies trigger the RNA interference mechanism to induce rapid, deep, and durable knockdown of target genes. RNA interference, or RNAi, is a mechanism present in living cells that inhibits the expression of a specific gene, thereby affecting the production of a specific protein. Arrowhead’s RNAi-based therapeutics leverage this natural pathway of gene silencing.

For more information, please visit www.arrowheadpharma.com, or follow us on X (formerly Twitter) at @ArrowheadPharma or on LinkedIn. To be added to the Company’s email list and receive news directly, please visit http://ir.arrowheadpharma.com/email-alerts.

About Plozasiran

Plozasiran is an investigational medicine designed to reduce the production of the protein Apolipoprotein-CIII (ApoC3) through the natural RNA interference (RNAi) mechanism.  ApoC3 is a protein that is produced in liver cells and inhibits the formation and clearance of various lipids and lipoproteins, including triglycerides. Plozasiran is currently being investigated to determine whether it is safe and effective to reduce the level of ApoC3, thereby reducing triglycerides. The plozasiran EAP is for individuals living with familial chylomicronemia syndrome (FCS).

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