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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 and therapies 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

Alpha-mannosidosis

Alpha-mannosidosis results in the body’s cells being unable to properly break down certain groups of complex sugars. The buildup of sugars can affect many of the body’s organs and systems. The disease presents with a variety of symptoms including impaired hearing, speech, and mobility that progress from childhood into adulthood and is often under-recognized, causing some patients to be left undiagnosed or untreated.

Alpha-mannosidosis Therapies Supported

Full Name LAMZEDE® (velmanase alfa-tycv)
Drug LAMZEDE
Manufacturer Chiesi Farmaceutici
Route of Administration Intravenous
Site of Care Home or Healthcare Facility
Approved Indication The treatment of non-central nervous system manifestations of alpha-mannosidosis in adult and pediatric patients
Disease Alpha-mannosidosis
Therapeutic Area Neurology, Genetics
Enrollment Form Link Enrollment Form
Phone Number (800) 240-9572
Fax Number (847) 427-7976
Product Website lamzede.com/hcp

Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

AADC deficiency is a rare and fatal genetic disorder that can cause severe physical, mental, and behavioral disability and suffering starting in infancy. Those suffering from AADC deficiency may also experience episodes that resembling seizures called oculogyric crises and deal with complications such as infections and severe feeding and breathing problems.

AADC Deficiency Therapies Supported

 

Full Name KEBILIDI™ (eladocagene exuparvovec-tneq)
Drug Kebilidi
Manufacturer PTC Therapeutics, Inc.
Route of Administration Intraputaminal
Site of Care Healthcare facility
Approved Indication Indicated for the treatment of adult and pediatric patients with aromatic 13 L-amino acid decarboxylase (AADC) deficiency
Disease Aromatic L-amino acid decarboxylase (AADC) deficiency
Therapeutic Area Neurology, Genetics, Cell & Gene Therapy
Enrollment Form Link Enrollment Form
Phone Number 888-221-3495
Fax Number 877-810-7806

About CD55-Deficient Protein-Losing Enteropathy (CHAPLE) Disease

CHAPLE disease (also known as CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein losing enteropathy, or CD55-deficient protein-losing enteropathy) is an ultra-rare hereditary condition characterized by an inability to regulate complement activity because of mutations in the CD55 gene. In most patients, this leads to potentially life-threatening symptoms beginning in infancy, including abdominal pain, bloody diarrhea, vomiting, malnutrition, slow growth, and edema. There are fewer than 100 patients worldwide who are known to have CHAPLE disease. 

CHAPLE Disease Therapies Supported

Full Name Veopoz™ (pozelimab-bbfg)
Drug Veopoz
Manufacturer Regeneron Pharmaceuticals
Route of Administration Intravenous
Site of Care Healthcare Facility
Approved Indication The treatment of adult and pediatric patients 1 year of age and older with CD55-deficient protein-losing enteropathy (PLE), also known as CHAPLE disease
Disease CD55-deficient protein-losing enteropathy (CHAPLE) Disease
Therapeutic Area Allergy & Immunology, Genetics
Enrollment Form Link Veopoz Enrollment Form
Phone Number 800-438-2375
Fax Number 877-440-0891
Product Website veopoz.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, Nephrology, 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, Nephrology, 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 Use in combination with MIPLYFFA™ (arimoclomol) for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older
Disease Gaucher Type I Disease, Niemann-Pick disease type C (NPC)
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 Use in combination with MIPLYFFA™ (arimoclomol) for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older
Disease Gaucher Type I Disease, Niemann-Pick disease type C (NPC)
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 Niemann-Pick Disease Type C (NPC)

Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, and neurodegenerative lysosomal storage disorder characterized by an inability of the body to transport cholesterol and other lipids within the cell, leading to an accumulation of these substances in various cell types, including neurons. The disease is caused by mutations in the NPC1 or NPC2 genes, which are responsible for making the NPC1 and NPC2 lysosomal proteins. Both children and adults can be affected by NPC with varying clinical presentations. Those living with NPC can lose independence due to physical and cognitive limitations, with key neurological impairments presenting in speech, cognition, swallowing, ambulation, and fine motor skills. Disease diagnosis can often take years, with disease progression being irreversible and often leading to early mortality.

NPC Therapies Supported

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 Use in combination with MIPLYFFA™ (arimoclomol) for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older
Disease Gaucher Type I Disease, Niemann-Pick disease type C (NPC)
Therapeutic Area Neurology, Genetics
Enrollment Form Link Miglustat Enrollment Form
Phone Number 800-240-9572
Fax Number 877-220-7581

Full Name MIPLYFFA™ (arimoclomol)
Drug Miplyffa
Manufacturer Zevra Therapeutics, Inc.
Route of Administration Oral
Site of Care Home
Approved Indication Use in combination with miglustat for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older
Disease Niemann-Pick disease type C (NPC)
Therapeutic Area Neurology, Genetics
Enrollment Form Link Enrollment Form
Phone Number 888-668-4198
Fax Number 888-668-2143
Product Website miplyffa.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 Use in combination with MIPLYFFA™ (arimoclomol) for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adult and pediatric patients 2 years of age and older
Disease Gaucher Type I Disease, Niemann-Pick disease type C (NPC)
Therapeutic Area Neurology, Genetics
Enrollment Form Link Yargesa Enrollment Form
Phone Number 800-240-9572
Fax Number 877-220-7581

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

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