Neurology Center of Excellence

Supporting patients living with a rare neurology condition

Orsini’s Neurology Center of Excellence launched in 2009 with our first enzyme replacement therapy program. Today we support many neurology programs across multiple rare and complex 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 Neurology 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

Neurology Conditions Supported

Explore the rare neurology 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 Ceroid Lipofuscinosis (C2LN)

Ceroid lipofuscinosis 2 (CLN2) is one of a group of rare genetic disorders called neuronal ceroid lipofuscinoses (NCLs), commonly known as Batten disease. CLN2, specifically, is a type of lysosomal storage disorder, in which individuals lack a specific enzyme that breaks down macromolecules such as lipids (fats) and proteins in intracellular compartments called lysosomes, which causes undegraded material to accumulate in neurons and other cells and leads to impaired cell function and neurodegeneration.

C2LN Therapies Supported

Full Name	Brineura® (cerliponase alfa)
Drug	Brineura
Manufacturer	BioMarin Pharmaceutical Inc.
Route of Administration	Intraventricular
Site of Care	Healthcare Facility
Approved Indication	Indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency
Disease	Ceroid Lipofuscinosis (C2LN)
Therapeutic Area	Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	brineura.com/hcp

About Cyclin-dependent Kinase-like 5 (CDKL5) Deficiency Disorder

CDKL5 deficiency disorder is a serious and rare genetic disorder caused by a cyclin-dependent kinase-like 5 (CDKL5) gene mutation. The CDKL5 gene is located on the X chromosome and is responsible for processing essential proteins for normal brain function and neuron development. CDD affects 1 in 40,000 to 60,000 newborns, primarily females, and is characterized by early-onset, difficult-to-control seizures and severe neuro-developmental impairment. Many children diagnosed with CDD also experience scoliosis, visual impairment, sensory problems, gastrointestinal difficulties, and sleeping disorders. Most CDKL5 gene mutations are “de novo,” meaning that they occur spontaneously and are not passed down through families.

CDKL5 Deficiency Disorder Therapies Supported

Full Name	Ztalmy® (ganaxolone)
Drug	Ztalmy
Manufacturer	Marinus Pharmaceuticals
Route of Administration	Oral
Site of Care	Home
Approved Indication	The treatment of seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients 2 years of age and older
Disease	Cyclin-dependent kinase-like 5 (CDKL5) Deficiency Disorder
Therapeutic Area	Neurology
Referral Link	Ztalmy Enrollment Form
Phone Number	844-ZTALMY1
Fax Number	844-ZTALMYF
Website	ztalmy.com

About Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy is a genetic, progressive form of muscular dystrophy that occurs primarily in males. It is caused by genetic changes in the DMD gene and is inherited in an X-linked recessive pattern. X-linked means the gene for the condition is located on the X-chromosome. In males, one altered copy of the gene is enough to cause DMD. DMD causes progressive weakness and muscle atrophy. In early signs of the disease, DMD may cause a delayed ability to sit, stand, or walk, and can make learning to speak difficult for the patient.

DMD Therapies Supported

Full Name	Amondys 45™ (casimersen)
Drug	Amondys 45
Manufacturer	Sarepta Therapeutics, Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	Treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping
Disease	Duchenne Muscular Dystrophy (DMD)
Therapeutic Area	Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-356-5034
Fax Number	877-339-4602
Product Website	amondys45.com

Full Name	deflazacort
Drug	deflazacort
Manufacturer	Generic
Route of Administration	Oral
Site of Care	Home
Approved Indication	Treatment of Duchenne muscular dystrophy (DMD) in patients 2 years of age and older
Disease	Duchenne Muscular Dystrophy (DMD)
Therapeutic Area	Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-605-1524
Fax Number	877-765-6254

Elevidys™ (delandistrogene moxeparvovec-rokl)

Full Name	Elevidys™ (delandistrogene moxeparvovec-rokl)
Drug	Elevidys
Manufacturer	Sarepta Therapeutics, Inc.
Route of Administration	Intravenous
Site of Care	Healthcare Facility
Approved Indication	Treatment of adult patients with symptomatic gene mutation confirmed limb-girdle muscular dystrophy type R5 (LGMDR5)
Disease	Limb-Girdle Muscular Dystrophy Type R5 (LGMDR5)
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	elevidyshcp.com

Full Name	Emflaza® (deflazacort)
Drug	Emflaza
Manufacturer	PTC Therapeutics, Inc.
Route of Administration	Oral
Site of Care	Home or Healthcare Facility
Approved Indication	Treatment of Duchenne muscular dystrophy (DMD) in patients 2 years of age and older
Disease	Duchenne Muscular Dystrophy (DMD)
Therapeutic Area	Neurology, Genetics
Enrollment Form Link	Enrollment Form
Phone Number	800-240-9572
Fax Number	877-220-7581
Product Website	hcp.emflaza.com

Full Name	Exondys 51® (eteplirsen)
Drug	Exondys 51
Manufacturer	Sarepta Therapeutics, Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping
Disease	Duchenne Muscular Dystrophy (DMD)
Therapeutic Area	Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-356-5034
Fax Number	877-339-4602
Product Website	exondys51.com

Full Name	Viltepso® (viltolarsen)
Drug	Viltepso
Manufacturer	NS Pharma
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping
Disease	Duchenne Muscular Dystrophy (DMD)
Therapeutic Area	Neurology
Enrollment Form Link	Viltepso Enrollment Form
Phone Number	800-759-0445
Fax Number	877-286-3620
Product Website	viltepso.com

Full Name	Vyondys 53® (golodirsen)
Drug	Vyondys 53
Manufacturer	Sarepta Therapeutics, Inc.
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping
Disease	Duchenne Muscular Dystrophy (DMD)
Therapeutic Area	Neurology
Enrollment Form Link	Vyondys 53 Enrollment Form
Phone Number	800-356-5034
Fax Number	877-339-4602
Product Website	vyondys53.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

Yargesa Featured Image v2_Orsini Website

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 Huntington’s Disease Chorea

Huntington’s disease chorea is a progressive neurodegenerative disorder characterized by involuntary, jerky movements known as chorea. This hereditary condition results from a mutation in the HTT gene, leading to the degeneration of nerve cells in the brain. Chorea involves random, uncontrollable muscle contractions, affecting coordination and voluntary movements. As Huntington’s disease advances, it causes cognitive decline, emotional disturbances, and impaired motor skills. The relentless nature of chorea significantly impacts an individual’s quality of life, requiring comprehensive support and care.

Providers can refer patients to Orsini by filling out and submitting our Movement Disorders Enrollment Form.

Huntington’s Disease Chorea Therapies Supported

Full Name	Austedo® (deutetrabenazine)
Drug	Austedo
Manufacturer	Teva Neuroscience, Inc.
Route of Administration	Oral
Site of Care	Home
Approved Indication	Indicated in adults for the treatment of Chorea associated with Huntington’s disease and tardive dyskinesia
Disease	Tardive Dyskinesia (TD); Huntington’s Disease Chorea
Therapeutic Area	Psychiatry, Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-691-0718
Fax Number	877-819-2424
Product Website	austedohcp.com

Full Name	Austedo® XR (deutetrabenazine)
Drug	Austedo XR Extended Release
Manufacturer	Teva Neuroscience, Inc.
Route of Administration	Oral
Site of Care	Home
Approved Indication	Indicated in adults for the treatment of Chorea associated with Huntington’s disease and tardive dyskinesia
Disease	Tardive Dyskinesia (TD); Huntington’s Disease Chorea
Therapeutic Area	Psychiatry, Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-691-0718
Fax Number	877-819-2424
Product Website	www.austedohcp.com

Full Name	Ingrezza® (valbenazine)
Drug	Ingrezza
Manufacturer	Neurocrine Biosciences
Route of Administration	Oral
Site of Care	Home
Approved Indication	The treatment of adults with tardive dyskinesia or chorea associated with Huntington’s disease
Disease	Tardive Dyskinesia (TD); Huntington’s Disease Chorea
Therapeutic Area	Psychiatry, Neurology
Enrollment Form Link	Enrollment Form
Phone Number	800-279-1676
Fax Number	877-868-1681
Product Website	ingrezzahcp.com

About Infantile Spasms

Infantile spasms, also known as West Syndrome, is a rare and severe form of epilepsy that typically manifests in the first year of life. Characterized by brief, sudden muscle contractions or spasms, often resembling a startle reflex, this condition is challenging to diagnose. Infantile spasms can lead to developmental regression and cognitive impairment. The underlying causes vary, including structural brain abnormalities or genetic factors. Early recognition and intervention are crucial for better outcomes, as prompt treatment may help control seizures and mitigate the potential impact on the child’s cognitive and developmental abilities.

Infantile Spasms Therapies Supported

Full Name	Vigabatrin
Drug	Generic
Manufacturer	N/A
Route of Administration	Oral
Site of Care	Home
Approved Indication	Adjunctive therapy for adults and pediatric patients 2 years of age and older with refractory complex partial seizures who have inadequately responded to several alternative treatments and for whom the potential benefits outweigh the risk of vision loss
Disease	Refractory Complex Partial Seizures; Infantile Spasms
Therapeutic Area	Neurology
Enrollment Form Link	Vigabatrin Enrollment Form
Phone Number	800-976-9809
Fax Number	877-569-6004
Product Website	N/A

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 Migraines

A migraine is a neurological condition typically characterized by moderate to severe recurrent headaches, with associated symptoms that may include nausea, vomiting and sensitivity to light, sound, or smell. These can be made worse by physical activity and other environmental factors. Typically, the headache will affect one half of the head and last from a few hours to a few days. Migraine affects 39 million Americans and most prevalent in people who are 18-44 years old.

Migraine Therapies Supported

Full Name	Vyepti® (eptinezumab-jjmr)
Drug	Vyepti
Manufacturer	Lundbeck
Route of Administration	Intravenous
Site of Care	Home or Healthcare Facility
Approved Indication	The preventive treatment of migraine in adults
Disease	Migraine
Therapeutic Area	Neurology
Enrollment Form Link	Vyepti Enrollment Form
Phone Number	800-259-7145
Fax Number	877-892-3019
Product Website	vyeptihcp.com

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

Miplyffa Featured Image v2_Orsini Website

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

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

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that affects the central nervous system, peripheral nervous system, and voluntary muscle movement, also known as skeletal muscle. A majority of the nerve cells that control muscles are located in the spinal cord, and when the patient’s muscles do not receive signals from those nerve cells, this results in their muscles getting smaller. The cause of spinal muscular atrophy is due to a missing gene that encodes the survival motor neuron (SMN) protein, which is critical to the health and survival of the nerve cells in the spinal cord responsible for muscle contraction (motor neurons). SMA occurs in nearly 1 in 11,000 births in the United States. The age when SMA symptoms begin tends to correlate with the severity to which motor function is affected.

SMA Therapies Supported

Zolgensma® (onasemnogene abeparvovec-xioi)

Full Name	Zolgensma® (onasemnogene abeparvovec-xioi)
Drug	Zolgensma
Manufacturer	Novartis Gene Therapy
Route of Administration	Intravenous
Site of Care	Healthcare Facility
Approved Indication	The treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene
Disease	Spinal Muscular Atrophy (SMA)
Therapeutic Area	Neurology; Cell & Gene Therapy
Referral Link	Zolgensma Referral Information
Phone Number	800-697-5048
Fax Number	877-471-5704
Website	zolgensma.com

About Tardive Dyskinesia (TD)

Tardive dyskinesia is a neurological movement disorder typically characterized by repetitive involuntary movements of the jaw, lips, and tongue, and some individuals experience involuntary rapid jerking movements or slow, writhing movements in the arms and legs. The condition is a result of long-term use of certain types of neuroleptics, such as antipsychotics or major tranquilizers.