Metabolic Disorder Center of Excellence

Supporting patients living with a rare metabolic condition

Orsini’s Metabolic Disorder Center of Excellence launched in 2024 with our first program for urea cycle disorders. Our dedicated Therapy Care Teams work with the physician’s office and insurance on a patient’s behalf so that our patients and their family have more time to focus on their treatment and quality of life. We are here to listen, provide counseling on treatment, including side-effect management, and assist with sourcing third-party financial assistance.

Explore Our Metabolic Disorder Therapies

Benefits

Improving the Patient Experience, Every Time

Dedicated Care Team

Receive personalized support from a dedicated Therapy Care Team, including a primary pharmacy contact, clinical education, side-effects management, and scheduled refill calls.

Patient-Centered Care

Experience compassionate care that prioritizes patients and their families. Our team supports patients of all ages, from infants to the elderly, extending care to the entire care team.

Insurance Coverage

Secure treatment coverage with assistance navigating payor and plan requirements. Our team proactively works with prescribers to obtain prior authorization and support appeals.

Free Care Overnight Shipping

Ensure medication and essential medical supplies arrive when and where patients need them through coordination across prescribers, patients, and care teams to arrange free overnight shipping.

Financial Assistance

Minimize financial exposure through financial assistance programs. We successfully identify and assist in enrolling patients into manufacturer co-pay and foundation support programs.

24/7/365 Access to a Pharmacist

Gain continuous access to a pharmacist, 24/7/365, ensuring ongoing care and clinical support for patients and prescribers to achieve better outcomes.

Support

Metabolic Conditions Supported

Explore the rare metabolic conditions and therapies Orsini supports below.

About Cushing’s Syndrome

Cushing’s syndrome, also known as hypercortisolism, is a rare condition that occurs when the body produces too much of the hormone cortisol. This can lead to bone loss, weight gain, high blood pressure, high blood sugar, and increased thirst, among other symptoms.

Cushing’s Syndrome Therapies Supported

Full Name	Mifepristone
Drug	Mifepristone
Manufacturer	Generic
Route of Administration	Oral
Site of Care	Home
Approved Indication	Control hyperglycemia secondary to hypercortisolism in adult patients with endogenous Cushing’s syndrome who have type 2 diabetes mellitus or glucose intolerance and have failed surgery or are not candidates for surgery
Disease	Cushing's Syndrome
Therapeutic Area	Endocrinology, Metabolic Disorder
Enrollment Form Link	Mifepristone Enrollment Form
Phone Number	(888) 204-7730
Fax Number	(877) 218-6288

About Homozygous Familial Hypercholesterolemia (HoFH)

Homozygous familial hypercholesterolemia is an ultra-rare, inherited genetic disorder causing extremely high levels of cholesterol in the blood. It affects approximately 1,300 patients in the U.S. Individuals with HoFH have impaired ability to remove LDL (“bad”) cholesterol, leading to severe and premature cardiovascular issues. This condition is more aggressive than typical familial hypercholesterolemia. Symptoms may include early-onset heart disease and cholesterol deposits in tendons.

HoFH Therapies Supported

Full Name	Evkeeza® (evinacumab-dgnb)
Drug	Evkeeza
Manufacturer	Regeneron Pharmaceuticals
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Adjunct to other low-density lipoprotein-cholesterol (LDL-C) lowering therapies for the treatment of adult and pediatric patients, aged 5 years and older, with homozygous familial hypercholesterolemia (HoFH)
Disease	Homozygous Familial Hypercholesterolemia (HoFH)
Therapeutic Area	Cardiology, Metabolic Disorder
Enrollment Form Link	Enrollment Form
Phone Number	800-645-4142
Fax Number	877-473-0199
Product Website	evkeezahcp.com

About Phenylketonuria (PKU)

PKU is a rare genetic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe), which causes Phe to accumulate in the body. As a result, those living with PKU can experience a wide variety of symptoms if left untreated, including severe brain damage and intellectual disabilities.

PKU Therapies Supported

Sapropterin Featured Image_Orsini Website

Full Name	Sapropterin
Drug	sapropterin dihydrochloride
Manufacturer	Generic
Route of Administration	Oral
Site of Care	Home
Approved Indication	Reduce blood phenylalanine (Phe) levels in adult and pediatric patients one month of age and older with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU), in conjunction with a Phe-restricted diet
Disease	Phenylketonuria (PKU)
Therapeutic Area	Endocrinology, Metabolic Disorder
Enrollment Form Link	Enrollment Form
Phone Number	(773) 598-6135
Fax Number	(877) 299-8203
Patient Resources	Alliance of PKU Families, flok, and National PKU Alliance

Sephience Featured Image 2_Orsini Website

Full Name	SEPHIENCE™ (sepiapterin)
Drug	sepiapterin
Manufacturer	PTC Therapeutics
Route of Administration	Oral
Site of Care	Home
Approved Indication	Treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PKU)
Disease	Phenylketonuria (PKU)
Therapeutic Area	Endocrinology, Metabolic Disorder
Enrollment Form Link	Enrollment Form
Phone Number	(847) 521-4499
Fax Number	(888) 726-9306
Product Website	sephience.com
Patient Resources	Alliance of PKU Families, flok, and National PKU Alliance

About Urea Cycle Disorders (UCDs)

Urea cycle disorders are a group of rare, genetic disorders that can cause harmful ammonia to build up in the blood, potentially resulting in brain damage and neurocognitive impairments if ammonia levels are not controlled. Any increase in ammonia over time is serious. Therefore, it is important to adhere to any dietary protein restrictions and have alternative medication options to help control ammonia levels.

UCD Therapies Supported

Full Name	OLPRUVA^® (sodium phenylbutyrate)
Drug	Olpruva
Manufacturer	Zevra Therapeutics, Inc.
Route of Administration	Oral
Site of Care	Home
Approved Indication	Chronic management of adult and pediatric patients weighing 20 kg or greater and with a body surface area (BSA) of 1.2 m2 or greater, with urea cycle disorders (UCDs) involving deficiencies of carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), or argininosuccinic acid synthetase (AS)
Disease	Urea Cycle Disorders (UCDs)
Therapeutic Area	Metabolic Disorder
Enrollment Form Link	Enrollment Form
Phone Number	800-837-8905
Fax Number	877-369-3806
Product Website	olpruvahcp.com
Patient Resources	flok

Patient Advocacy Partners

The Alex Rezcalla Foundation advances the development of therapies for individuals with Duchenne muscular dystrophy (DMD) through advocacy and research funding. It raises awareness of the DMD experience by hosting events, engaging the public, and building networks of support.

Learn more at alexrezkallafoundation.org

The Amyloidosis Research improves the lives of patients with amyloidosis and accelerates cutting edge research through collaborative, groundbreaking initiatives. ARC provides support, information, and resources to patients and caregivers, empowering them to access the best care possible.

Learn more at aci.org

Cure SMA is dedicated to finding treatments and a cure for spinal muscular atrophy (SMA) by funding research and supporting families. Since 1984, Cure SMA has grown to be the largest U.S.-based network of individuals, families, clinicians, and research scientists working together to advance SMA research, support individuals and families impacted by SMA, and educate public and professional communities about SMA.

Learn more at www.curesma.org

The US Hereditary Angioedema Association (HAEA) is a 501 (c)(3) non-profit advocacy and research organization serving people living with the rare genetic condition, Hereditary Angioedema (HAE), and their families. Founded and staffed by people with HAE and caregivers, the US HAEA is committed to actively engaging our community in a wide variety of grassroots activities that promote HAE education and awareness.

Learn more at haea.org

The HypoPARAthyroidism Association is a non-profit patient association working to improve the lives of people impacted by hypoPARAthyroidism through education, support, research, and advocacy. They raise awareness of hypoPARAthyroidism and bring change to the lives of those affected.

Learn more at hypopara.org

Jett Foundation empowers people and families impacted by Duchenne muscular dystrophy through the development of transformative programming, educational opportunities, and ongoing support for every stage of a Duchenne journey.

Learn more at jettfoundation.org

Muscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and over 300 other neuromuscular conditions. For 75 years, MDA has led the way in accelerating research, advancing care, and advocating support and inclusion of families living with neuromuscular disease.

Learn more at mda.org

The National MPS Society is committed to making a difference in the lives of MPS families through support, research, education, and advocacy. Families from around the world gain a better understanding of these rare genetically determined diseases through the Society’s assistance in linking them with healthcare professionals, researchers, and, perhaps most importantly, each other.

Learn more at mpssociety.org

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is a non-profit, patient advocacy and family support organization dedicated to supporting and empowering patients and families affected by Niemann-Pick disease, through education, collaboration and research. Founded in 1993, NNPDF serves families throughout the nation at all stages of their Niemann-Pick journey.

Learn more at nnpdf.org

The National PKU Alliance (NPKUA) works to improves the lives of individuals with PKU, pursue a cure by expanding research, and provide education and support to individuals living with PKU and their caregivers. Since its inception in 2008, NPKUA has supported numerous successful fundraising events, conferences, and internal support programs and has remained steadfast in its support of research endeavors.

Learn more at npkua.org

Parent Project Muscular Dystrophy (PPMD) is the largest nonprofit organization in the United States focused entirely on Duchenne muscular dystrophy. They take a comprehensive approach in the fight against Duchenne—funding research, raising awareness, promoting advocacy, connecting the community, and broadening treatment options.

Learn more at parentprojectmd.org

The Pompe Alliance is a Public Services Organization dedicated to the ideas of support, empowerment, and progress. It seeks to provide supportive services and information to patients, caregivers, medical professionals, and community stakeholders through a number of initiatives: financial assistance, advocacy, education, mentoring, and research recruitment

Learn more at pompealliance.com

The mission of the Pulmonary Fibrosis Foundation is to accelerate the development of new treatments and ultimately a cure for pulmonary fibrosis. Until this goal is achieved, the PFF is committed to advancing improved care of patients with PF and providing unequaled support and education resources for patients, caregivers, family members, and health care providers.

Learn more at pulmonaryfibrosis.org

The United Pompe Foundation was formed to assist patients and/or their families with medical costs and other expenses that these patents and families face and may not be able to cover, or fully cover, through their insurance.

Learn more at unitedpompe.com