Genetics Center of Excellence

Supporting patients living with a rare genetic condition

Orsini’s Genetic Center of Excellence launched in 2009 with our first enzyme replacement therapy program. Today we support multiple programs across several rare genetic conditions. 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 Genetics 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.

Home Health Nursing

Access nationwide nursing support for in-home treatment or self-administration training. Our nurses provide clinical support to help patients achieve their treatment goals.

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

Rare Genetic Conditions Supported

Explore the rare genetic conditions Orsini supports below.

About Acid Sphingomyelinase Deficiency (ASMD)

Historically known as Niemann-Pick disease types A, A/B and B, acid sphingomyelinase deficiency is an extremely rare, progressive genetic disease. It is estimated that there are fewer than 120 patients in the U.S. diagnosed with ASMD; the majority are children. ASMD is caused by the lack of an enzyme needed to break down a complex lipid, called sphingomyelin, in cells. This can lead to a buildup of sphingomyelin in the liver, spleen, lungs, and brain. Signs and symptoms of ASMD can appear in infancy, childhood, or adulthood, and may include enlarged spleen or liver, breathing issues, lung infections, unusual bruising or bleeding due to low platelet count, as well as pain, vomiting, feeding difficulties and falls caused by an enlarged abdomen.

ASMD Therapies Supported

Full Name	Xenpozyme® (olipudase alfa-rpcp)
Drug	Xenpozyme
Manufacturer	Sanofi Genzyme
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Treatment of non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients
Disease	Acid Sphingomyelinase Deficiency (ASMD)
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Xenpozyme Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	xenpozyme.com

About Fabry disease

Fabry disease belongs to a group of diseases known as lysosomal storage disorders. It is a rare inherited disorder of lipid (fat) metabolism which results from the deficient activity of the enzyme, alpha-galactosidase A (a-Gal A). This leads to a buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3, that affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet, clusters of small, dark red spots on the skin, a decreased ability to sweat, cloudiness of the front part of the eye and hearing loss. Complications such as progressive kidney damage, heart attack, and stroke can be life-threatening.

Fabry Disease Therapies Supported

Full Name	Elfabrio® (pegunigalsidase alfa-iwxj)
Drug	Elfabrio
Manufacturer	Chiesi
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of adults with confirmed Fabry disease
Disease	Fabry disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	833-656-1056
Fax Number	636-355-3610
Product Website	hcp.elfabrio.com

Full Name	Fabrazyme® (agalsidase beta)
Drug	Fabrazyme
Manufacturer	Sanofi Genzyme
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of adult and pediatric patients 2 years of age and older with confirmed Fabry disease
Disease	Fabry disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	hcp.fabrazyme.com

About Gaucher Type I Disease

Gaucher Type I is a lysosomal storage disorder characterized by the accumulation of glucocerebroside. It affects the spleen, liver, and bone marrow, leading to symptoms such as anemia, bone pain, and organ enlargement.

Gaucher Type I Therapies Supported

Full Name	Cerdelga® (eliglustat)
Drug	Cerdelga
Manufacturer	Sanofi Genzyme
Route of Administration	Oral
Site of Care	Home
Approved Indication	Long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test
Disease	Gaucher Type I Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	hcp.cerdelga.com

Full Name	Cerezyme® (imiglucerase)
Drug	Cerezyme
Manufacturer	Sanofi Genzyme
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Treatment of adults and pediatric patients 2 years of age and older with Type 1 Gaucher disease that results in one or more of the following conditions: anemia, thrombocytopenia, bone disease, hepatomegaly or splenomegaly
Disease	Gaucher Type I Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	cerezyme.com/hcp

Full Name	Elelyso® (taliglucerase alfa)
Drug	Elelyso
Manufacturer	Pfizer
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Long-term enzyme replacement therapy (ERT) for adults with a confirmed diagnosis of Type 1 Gaucher disease
Disease	Gaucher Type I Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	elelyso.pfizerpro.com

Full Name	miglustat
Drug	Miglustat
Manufacturer	Generic
Route of Administration	Oral
Site of Care	Home or Healthcare Facility
Approved Indication	Monotherapy for treatment of adult patients with mild/moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option
Disease	Gaucher Type I Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Miglustat Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581

Full Name	Vpriv® (velaglucerase alfa)
Drug	Vpriv
Manufacturer	Takeda Pharmaceuticals U.S.A., Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Long-term enzyme replacement therapy (ERT) for pediatric and adult patients with type 1 Gaucher disease
Disease	Gaucher Type I Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Vpriv Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	hcp.vpriv.com

Full Name	Yargesa™ (miglustat)
Drug	Yargesa
Manufacturer	Edenbridge Pharmaceuticals
Route of Administration	Oral
Site of Care	Home or Healthcare Facility
Approved Indication	Monotherapy for treatment of adult patients with mild/moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option
Disease	Gaucher Type I Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Yargesa Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581

About Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Long-chain fatty acid oxidation disorders are a group of autosomal recessive genetic disorders characterized by metabolic deficiencies in which the body is unable to convert long-chain fatty acids into energy. The inability to produce energy from fat can lead to severe depletion of glucose in the body and serious complications. Approximately 2,000-3,000 children and adults in the US are affected by LC-FAOD.

LC-FAOD Therapies Supported

Full Name	Dojolvi® (triheptanoin)
Drug	Dojolvi
Manufacturer	Ultragenyx
Route of Administration	Oral or Gastrointestinal Tube
Site of Care	Home
Approved Indication	The treatment of pediatric and adult patients with molecularly confirmed long-chain fatty acid oxidation disorders (LC-FAOD)
Disease	Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-546-7102
Fax Number	877-389-5186
Product Website	dojolvihcp.com

About Lysosomal Acid Lipase Deficiency (LAL-D)

Lysosomal acid lipase deficiency is a rare genetic disorder causing the deficiency of lysosomal acid lipase enzyme. This leads to the accumulation of lipids in various organs, resulting in liver and cardiovascular complications.

LAL-D Therapies Supported

Full Name	Kanuma® (sebelipase alfa)
Drug	Kanuma
Manufacturer	Alexion Pharmaceuticals, a subsidiary of AstraZeneca
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of patients with a diagnosis of Lysosomal Acid Lipase (LAL) deficiency
Disease	Lysosomal Acid Lipase Deficiency (LAL-D)
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	kanuma.com/hcp

About Mucopolysaccharidosis Types I, II, VI, VII, IVA

Mucopolysaccharidoses are a group of inherited metabolic conditions in which the body either does not produce enough enzymes required to break down sugars into simpler molecules, or the body produces enzymes that do not work properly. Over time, molecules called glycosaminoglycans (sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue) collect in the cells, blood, and connective tissues, resulting in permanent, progressive cellular damage. The cellular damage affects the appearance, physical abilities, organ and system functioning, as well as cognitive development. Several different clinical types of Mucopolysaccharidosis have been identified: MPS I also known as Hurler, Hurler-Scheie, and Scheie; MPS II also known as Hunter syndrome; MPS III also known as Sanfilippo syndrome; MPS IV also known as Morquio syndrome; MPS VI also known as Maroteaux-Lamy syndrome; MPS VII also known as Sly syndrome; and MPS IX also known as Natowicz syndrome.

MPS Therapies Supported

Full Name	Aldurazyme® (laronidase)
Drug	Aldurazyme
Manufacturer	Genzyme Corporation
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Adult and pediatric patients with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I) and for patients with the Scheie form who have moderate to severe symptoms
Disease	Mucopolysaccharidosis I
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	aldurazyme.com/healthcare

Full Name	Elaprase® (idursulfase)
Drug	Elaprase
Manufacturer	Takeda Pharmaceuticals U.S.A., Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Patients with Hunter syndrome (Mucopolysaccharidosis II, MPS II)
Disease	Mucopolysaccharidosis II
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	elaprase.com/hcp

Full Name	Naglazyme® (galsulfase)
Drug	Naglazyme
Manufacturer	BioMarin Pharmaceutical Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Patients with Mucopolysaccharidosis VI (MPS VI; Maroteaux-Lamy Syndrome)
Disease	Mucopolysaccharidosis VI
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Naglazyme Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	naglazyme.com

Full Name	Vimizim® (elosulfase alfa)
Drug	Vimizim
Manufacturer	BioMarin Pharmaceutical Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Patients with Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome)
Disease	Mucopolysaccharidosis IVA
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Vimizim Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	vimizim.com

About Pompe Disease

Pompe disease is an inherited disorder caused by the buildup of glycogen, a complex sugar, in the body’s cells, which impairs the ability for affected organs, tissues, and muscles to function normally. Several different clinical types of Pompe disease have been identified: classic form, infantile-onset; non-classic form, infantile-onset; and late-onset.

Pompe Disease Therapies Supported

Full Name	Lumizyme® (alglucosidase alfa)
Drug	Lumizyme
Manufacturer	Sanofi Genzyme
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Patients with Pompe disease (GAA deficiency)
Disease	Pompe Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form Link
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	lumizyme.com

Full Name	Nexviazyme® (avalglucosidase alfa-ngpt)
Drug	Nexviazyme
Manufacturer	Sanofi Genzyme
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of patients 1 year of age and older with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency)
Disease	Pompe Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Nexviazyme Enrollment Form Link
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	nexviazyme.com

Pombiliti™-(cipaglucosidase-alfa-atga)-+-Opfolda™-(miglustat)

Full Name	Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat)
Drug	Pombiliti & Opfolda
Manufacturer	Amicus Therapeutics
Route of Administration	Intravenous and oral
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of adult patients with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT)
Disease	Pompe Disease
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Pombiliti & Opfolda Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	pombilitiopfolda.com