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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 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 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

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
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 Hereditary ATTR amyloidosis (hATTR or ATTRv) – Polyneuropathy (PN)

Hereditary transthyretin-mediated amyloid polyneuropathy is a rare genetic disorder characterized by the accumulation of abnormal transthyretin protein in peripheral nerves and organs. This leads to progressive damage to the nervous system, causing polyneuropathy with symptoms like sensory loss, muscle weakness, and autonomic dysfunction. The condition is inherited in an autosomal dominant manner, often impacting multiple generations. hATTR-PN significantly impairs daily functioning, affecting mobility and quality of life. There are an the estimated 40,000 patients worldwide living with ATTRv-PN.

hATTR-PN Deficiency Disorder Therapies Supported

Full Name Amvuttra® (vutrisiran)
Drug Amvuttra
Manufacturer Alnylam Pharmaceuticals, Inc.
Route of Administration Subcutaneous
Site of Care Home or Healthcare Facility
Approved Indication Treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults
Disease Hereditary ATTR amyloidosis (hATTR) - Polyneuropathy (PN)
Therapeutic Area Neurology
Enrollment Form Link Enrollment Form
Phone Number 800-372-9581
Fax Number 877-349-7938
Product Website amvuttrahcp.com

Full Name Onpattro® (patisiran)
Drug Onpattro
Manufacturer Alnylam Pharmaceuticals
Route of Administration Intravenous
Site of Care Home or Healthcare Facility
Approved Indication The treatment of the polyneuropathy of hereditary transthyretin-mediated amyloidosis in adults
Disease Hereditary ATTR amyloidosis (hATTR) - Polyneuropathy (PN)
Therapeutic Area Neurology
Enrollment Form Link Onpattro Start Form
Phone Number 800-690-8236
Fax Number 877-445-8481
Product Website onpattro.com

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.

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 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

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

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 Form
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.

TD 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