Supporting You Every Step Of The Way
Getting Started on SEPHIENCE
Ready to start SEPHIENCE? Fill out the Prescription Start Form with your doctor. From there, PTC Cares™ will guide you every step of the way, helping manage the prescription process so you can focus on what matters most.
SEPHIENCE Prescription Start Form
Download the SEPHIENCE Prescription Start Form and bring it to your next appointment. It’s designed to help you and your doctor decide if SEPHIENCE is a good fit for your phenylketonuria (PKU) management.
We’ve Got You Covered
PTC Cares Case Managers guide families through treatment, insurance, and medication access. Think of your Case Manager as your personal guide!
(1-844-478-2227), Monday to Friday, 8 am – 6 pm (EST).
How we can help with PKU treatment costs
Our Case Managers explore every possible option to help you access the PKU medication your doctor prescribes. PTC Therapeutics offers several programs to help.
The Copay Assistance Program*†
The Bridge Program*
May provide patients a temporary supply of PTC medication free of charge while they await verification of insurance coverage.
Patient Assistance Program (PAP)
May help patients without insurance,
who are eligible, get access to treatment.
*Low to no out-of-pocket costs for most patients who qualify.
†Not valid for prescriptions eligible to be reimbursed, in whole or in part, by Medicaid or Medicare (including Medicare Part D), or where prohibited by law.
Not actual patients.
Always talk to your doctor:
- The PTC Cares Patient Support Program does not substitute for your doctor’s support and management of your condition
- Remember to contact your doctor for any questions related to your condition
- If you have any additional questions about your condition, treatment, or the PTC Cares Patient Support Program, contact PTC Cares today. You can refer to your SEPHIENCE starter kit and the Patient Medication Information Leaflet included in your medication’s packaging
Frequently Asked Questions (FAQs)
Do you have questions about SEPHIENCE or PKU? We’ve got some answers. Ask your doctor any questions before starting and during treatment with SEPHIENCE.
What is SEPHIENCE and how does it help with PKU?
SEPHIENCE is a medicine that helps your body break down a substance called phenylalanine (Phe), which builds up in the blood of people with PKU. Too much Phe can be harmful, especially to the brain. SEPHIENCE helps lower Phe levels when taken daily with food and sticking to a Phe-restricted diet.
What makes SEPHIENCE different?
SEPHIENCE helps your body make its own tetrahydrobiopterin (BH4), a key helper in breaking down Phe. Instead of adding BH4 directly, SEPHIENCE gives your body the tools to build it from within—even if the natural system isn’t working properly. Explore how SEPHIENCE works.
Do I or my loved one taking SEPHIENCE have to follow the PKU diet while on SEPHIENCE?
Yes. SEPHIENCE is meant to be used with a Phe-restricted diet. Your healthcare provider may change your diet during treatment. Follow your healthcare provider’s instructions and do not make any changes to your diet without first talking to your healthcare provider.
How will I know if SEPHIENCE is working?
Always work with your healthcare provider to track your blood Phe levels to see how your body is responding. In the clinical trial, many patients began seeing a drop in blood Phe within just 2 weeks of starting SEPHIENCE.
How should SEPHIENCE be taken?
SEPHIENCE comes as a powder. Mix it with water, apple juice, or soft food (only for doses ≥1000 mg), such as applesauce or strawberry jam. Stir it well and administer the full dose immediately. Oral powder is not expected to dissolve completely–this is normal. If any is left in the cup or syringe, rinse and offer it again to ensure you or your loved one gets it all. Your healthcare provider may recommend changes to your diet during treatment. Follow your healthcare provider’s instructions and do not make any changes to your diet without first talking to your healthcare provider. You can also visit the Dosing page to see how SEPHIENCE is taken and what to expect.
Can SEPHIENCE be used in babies?
Yes, for babies 1 month and older. The dose depends on age and weight. It’s been tested in babies, kids, teens, and adults. But it’s not recommended for babies younger than 1 month, as it is not known if SEPHIENCE is safe and effective in this age group.
What if I miss a dose?
Take the missed dose as soon as you remember. But if it’s already close to your next dose, skip the missed one—never take two doses in the same day. Just resume your regular schedule the next day.
Are there any side effects I should know about?
Some people may experience mild to moderate side effects like diarrhea, headaches, stomach pain, throat irritation, or changes in stool color. In rare cases, especially in young children, Phe levels may drop too low, a condition called hypophenylalaninemia. Regular blood tests are important to help your doctor keep levels in a healthy range. Learn more about possible side effects.
Can SEPHIENCE be used during pregnancy or while breastfeeding?
The effects during pregnancy and breastfeeding aren’t fully known. Keeping Phe levels safe is critical for a healthy pregnancy and baby. Always talk with your doctor if you’re pregnant or planning to be.
Can SEPHIENCE interact with other medicines?
Inform your doctor if you take any medications or supplements, including levodopa. Some people taking levodopa with similar treatments have experienced side effects like seizures or irritability, so your doctor may want to monitor you. Always tell your doctor about everything you’re taking, even vitamins or supplements.
Resources
Whether you’re living with PKU or caring for someone who is, support is here when you need it. These resources can help you better understand PKU and how to manage it with SEPHIENCE.
SEPHIENCE Patient Brochure
Get to know SEPHIENCE and what it can mean for life with PKU. This brochure covers the basics—from why managing phenylalanine (Phe) levels matters to what you can expect with treatment. It also includes a dosing tracker and details about support through PTC Cares™.
Guide to Taking SEPHIENCE
How do I take SEPHIENCE? This quick guide walks you through how it’s taken, when, and how to mix the oral powder with food or drink—plus helpful tips for staying on track.
Advocacy & Support Groups
Here are some organizations and resources that can support you—plus, don’t forget to check for local and regional PKU groups in your area.
National PKU Alliance
National PKU Alliance (NPKUA) is the only national organization dedicated solely to supporting individuals and families affected by PKU. NPKUA provides trusted, up-to-date information on treatment and research, while building connection through community calls, peer mentoring, and life-stage support kits. They also advance progress in PKU research through a PKU patient registry and direct investment in scientific innovation.
flok
flok supports those living with PKU and their caregivers by providing an app for daily PKU management, annual family camps, educational resources, and the opportunity to drive research through daily care. Care and Research, Together. That’s flok.
National Organization for Rare Disorders (NORD)
NORD offers the latest information about PKU research and care, as well as financial assistance for patients and resources to connect with the rare disease community.
