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Novartis

Drugmaker with rare disease work · based in Basel, Switzerland · founded 1996 · ticker NOVN · novartis.com

Novartis works on 59 rare diseases we track, including Acromegaly, Acute Myeloid Leukemia and 57 more. It has 42 active clinical trials, and 22 are looking for volunteers now. It also has 20 FDA-approved rare disease drugs.

Latest news, July 17, 2026. Fabhalta (iptacopan) received full FDA approval for IgA nephropathy on July 16, 2026 after a 24-month trial showed a 48% slower decline in kidney function; Itvisma, the spinal-fluid form of Zolgensma for SMA, was approved November 24, 2025. Novartis press release, July 17, 2026

Novartis has one of the broadest rare disease portfolios in the industry, spanning neuroscience, hematology, immunology, and ophthalmology. Key products include Zolgensma (onasemnogene abeparvovec) for spinal muscular atrophy, Fabhalta (iptacopan) for paroxysmal nocturnal hemoglobinuria, and Jakavi (ruxolitinib) for myelofibrosis and polycythemia vera.

Novartis pipeline

Each row lists the diseases Novartis is studying at that stage, from the ones closest to approval down to the earliest work.

Approved
Drugs the FDA has approved.

Adakveo (crizanlizumab) · Afinitor (everolimus) · Exjade (deferasirox) · Fabhalta (iptacopan) · Gilenya (fingolimod hcl) · Gleevec (imatinib mesylate) · Ilaris (canakinumab) · Jadenu (deferasirox) · Kesimpta (ofatumumab) · Leqvio (inclisiran) · 10 more

Phase 3
Large studies, usually the last step before a company asks the FDA for approval.

Paroxysmal Nocturnal Hemoglobinuria recruiting · Familial Hypercholesterolemia - Homozygous recruiting · Atypical Hemolytic Uremic Syndrome recruiting · IgA Nephropathy 2 trials · Lupus Nephritis · Sickle Cell Disease · Myelofibrosis · Sjögren's Syndrome · Multiple Sclerosis

Phase 2
Mid-size studies that check whether a drug works and at what dose.

Myelodysplastic Syndromes 3 trials recruiting · Geographic Atrophy recruiting · Multiple Myeloma recruiting · Solid Tumor recruiting · Multiple Sclerosis · Polycythemia Vera · Amyotrophic Lateral Sclerosis · Breast Cancer Stage II · Mantle Cell Lymphoma

Phase 1
First studies in people, mostly checking safety.
After approval
Studies that follow people already taking an approved drug.

Sickle Cell Disease 2 trials recruiting · Multiple Sclerosis 2 trials recruiting

Other studies
Studies with no phase listed, such as registries and natural history studies.

Multiple Sclerosis 5 trials recruiting · Paroxysmal Nocturnal Hemoglobinuria 2 trials recruiting · Polycythemia Vera 2 trials recruiting · Spinal Muscular Atrophies recruiting · Immune Thrombocytopenia recruiting · Ankylosing Spondylitis recruiting · Ankylosing Spondylitis (AS) / Radiographic Axial SpA (r-axSpA) recruiting · C3 Glomerulopathy

Novartis clinical trials

These are Novartis trials for the rare diseases we track, from ClinicalTrials.gov. Statuses there can lag behind company news, so confirm with the study team before you plan around one.

22 trials looking for volunteers now

Looking for volunteersPhase 4Recently updatedNCT06733922

ELIOS - Investigational Biomarkers to Track Disease Modification in Active RRMS

Tests ETNATM-ProgMS

For Relapsing Remitting Multiple Sclerosis (RRMS)

The exploratory ELIOS study aims to assess the value of novel investigational Eye Movement Biomarkers (EMBs) in tracking disease-related changes among a real-world cohort of Canadian patients with active RRMS, within the context of disease-modifying treatment (i.e., ofatumumab). To that end, the study will use the patented investigational, Eye Tracking Neurological Assessment (ETNA-ProgMS) SaMD (v1.0.11 or later), which has not yet received Health Canada approval, to reliably and accurately track eye movements with precision.

Ages 18 Years - 99 Years16 locations
View full study
Looking for volunteersRecently updatedNCT06019637

A Long-term Safety Study in Brazilian Patients With a Diagnosis of Spinal Muscular Atrophy Treated With Zolgensma

Tests Onasemnogene Abeparvovec

For Spinal Muscular Atrophies

A long-term safety study in Brazilian patients with a confirmed diagnosis of Spinal Muscular Atrophy (SMA) treated with Onasemnogene Abeparvovec (Zolgensma®)

Ages 0 Years - 100 Years2 locations
View full study
Looking for volunteersPhase 2Recently updatedNCT07441642

A Study to Investigate Efficacy and Safety of FWY003 Compared With Placebo in Participants With Geographic Atrophy Secondary to Age-related Macular Degeneration

Tests FWY003, Placebo

For Geographic Atrophy Secondary to Age-related Macular Degeneration

To characterize the dose response relationship of FWY003 in participants with geographic atrophy (GA) secondary to age-related macular degeneration (AMD).

Ages 50 Years+65 locations
View full study
Looking for volunteersPhase 4Recently updatedNCT07488520

Integrating Point of Care Testing (POCT) For Newborn Screening and Early Care for Sickle Cell Disease in Yopougon, Côte d'Ivoire

Tests Gazelle-Multispectral point of care testing for newborn sickle cell disease screening; and initiation of early comprehensive clinical interventions

For Sickle Cell Disease (SCD)

The goal of this clinical trial is to learn if a multifaceted intervention composed of Gazelle-Multispectral sickle cell disease (SCD) point of care testing (POCT) and early initiation of comprehensive SCD care in children with SCD disease aged 0 - 6 months can improve their clinical outcomes. The main questions it aims to answer are: * Does the intervention lower the number of SCD-related illnesses? * Does the intervention lower the illness incidence defined as seeking health care at any health facility - with or without treatment - for any episode related to a SCD related illness? * Does the intervention lower all-cause death rate (at the end of 1, 2, 3 and 3.5 years of follow-up)? Researchers will compare the multifaceted intervention results with those of historical data (based on erratic SCD testing and treatment) from the region. Participants will undergo a SCD screening test using the Gazelle Multispectral platform and if positive they will undergo confirmatory testing with HemoTypeSC™. Participants with SCD will receive early comprehensive clinical interventions i.e. standard administration of antibacterial and antimalarial prophylaxis, vaccinations for pneumococcal and Haemophilus influenzae type b (Hib), hydroxyurea, parental education about the need for regular and, if necessary, urgent medical care.

Ages 0 Months - 6 Months2 locations
View full study
Looking for volunteersRecently updatedNCT07786077

A Study of Patients' Preferences for Primary Immune Thrombocytopenia Treatment

For Primary Immune Thrombocytopenia

This study aims to evaluate treatment preferences of patients with Primary Immune Thrombocytopenia (ITP) in the United States (US) by conducting a preference elicitation survey.

Ages 18 Years+1 location
View full study
Looking for volunteersPhase 2Recently updatedNCT02693535

TAPUR: Testing the Use of Food and Drug Administration (FDA) Approved Drugs That Target a Specific Abnormality in a Tumor Gene in People With Advanced Stage Cancer

Tests Sunitinib (CLOSED TO ENROLLMENT), Trastuzumab and Pertuzumab (CLOSED TO ENROLLMENT), Vemurafenib and Cobimetinib (CLOSED TO ENROLLMENT), Olaparib (CLOSED TO ENROLLMENT), Nivolumab and Ipilimumab (CLOSED TO ENROLLMENT), Abemaciclib (CLOSED TO ENROLLMENT), Talazoparib (CLOSED TO ENROLLMENT), Atezolizumab and Talazoparib (CLOSED TO ENROLLMENT), Tucatinib plus Trastuzumab Subcutaneous (SC) (CLOSED TO ENROLLMENT), Futibatinib, Dabrafenib plus Trametinib, Fam-Trastuzumab Deruxtecan-Nxki (TDxD)

For Lymphoma, Non-Hodgkin, Multiple Myeloma and Advanced Solid Tumors

The purpose of the study is to learn from the real world practice of prescribing targeted therapies to patients with advanced cancer whose tumor harbors a genomic variant known to be a drug target or to predict sensitivity to a drug. NOTE: Due to character limits, the arms section does NOT include all TAPUR Study relevant biomarkers. For additional information, contact TAPUR@asco.org, or if a patient, your nearest participating TAPUR site (see participating centers). \*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\* Results in publication or poster presentation format are posted as they become available for individual cohorts at www.tapur.org/news. The results may be accessed at any time. All results will be made available on clinicaltrials.gov at the end of the study. Indexing of available results on PubMed is in progress. \*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*\*

Ages 12 Years+181 locations
View full study
Looking for volunteersRecently updatedNCT07779460

A Study Comparing Effectiveness of Kesimpta® (Ofatumumab) Versus Ocrevus® (Ocrelizumab) in Real-world Practice

For Multiple Sclerosis

This study aims to generate real-world evidence on the clinical effectiveness and economic burden of ofatumumab (OMB) versus ocrelizumab (OCR) in patients diagnosed with multiple sclerosis (MS) in the United States (US). Clinical effectiveness will be assessed using annualized relapse rate (ARR), while economic burden will be assessed using healthcare resource utilization (HCRU) and healthcare costs (HCC). This study will use two primary data sources that capture longitudinal, de-identified healthcare utilization derived from claims submitted for reimbursement.

Ages 18 Years - 100 Years1 location
View full study
Looking for volunteersRecently updatedNCT06905288

Real-world Study on Secukinumab Effectiveness in Biologic-naïve Ankylosing Spondylitis (AS) Patients in Korea.

Tests Secukinumab

For Ankylosing Spondylitis

This is an observational study to evaluate the effectiveness and safety of secukinumab in participants with AS who have never used TNFi, JAKi, or IL-17i drugs before.

Ages 18 Years - 40 Years3 locations
View full study
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FDA-approved drugs from Novartis

From the openFDA database. Tap a drug for side effects, dosing and help paying.

Adakveo crizanlizumab

For Sickle Cell Disease. Approved Nov 15, 2019. Taken by intravenous route.

Afinitor everolimus

For Tuberous Sclerosis and Neuroendocrine Tumors. Approved Mar 30, 2009. Taken by mouth.

Exjade deferasirox

For Thalassemia. Approved Nov 2, 2005. Taken by mouth.

Fabhalta iptacopan

For IgA Nephropathy and Paroxysmal Nocturnal Hemoglobinuria. Approved Dec 5, 2023. Taken by mouth.

Gilenya fingolimod hcl

For Multiple Sclerosis. Approved Sep 21, 2010. Taken by mouth.

Gleevec imatinib mesylate

For Gastrointestinal Stromal Tumor, Systemic Mastocytosis and Myelodysplastic Syndromes. Approved May 10, 2001. Taken by mouth.

Ilaris canakinumab

For Systemic Juvenile Idiopathic Arthritis. Approved Jun 17, 2009. Taken by subcutaneous route.

Jadenu deferasirox

For Thalassemia. Approved Mar 30, 2015. Taken by mouth.

Kesimpta ofatumumab

For Multiple Sclerosis. Approved Oct 26, 2009. Taken by subcutaneous route.

Leqvio inclisiran

For Homozygous Familial Hypercholesterolemia. Approved Dec 22, 2021. Taken by subcutaneous route.

Lutathera lutetium lu 177 dotatate

For Neuroendocrine Tumors. Approved Jan 26, 2018.

Mayzent siponimod

For Multiple Sclerosis. Approved Mar 26, 2019. Taken by mouth.

Promacta eltrombopag olamine

For Immune Thrombocytopenia and Aplastic Anemia. Approved Nov 20, 2008. Taken by mouth.

Rydapt rydapt

For Systemic Mastocytosis and Acute Myeloid Leukemia. Approved Apr 28, 2017. Taken by mouth.

Sandostatin octreotide acetate

For Acromegaly. Approved Oct 21, 1988. Taken by intravenous, subcutaneous route.

Sandostatin LAR Depot octreotide acetate

For Acromegaly and Neuroendocrine Tumors. Approved Nov 25, 1998.

Triesence triamcinolone acetonide

For Giant Cell Arteritis. Approved Nov 29, 2007. Taken by ophthalmic route.

Vanrafia atrasentan

For IgA Nephropathy. Approved Apr 2, 2025. Taken by mouth.

Itvisma onasemnogene abeparvovec-brve

For Spinal Muscular Atrophy. Taken by intrathecal route.

Zolgensma onasemnogene abeparvovec-xioi

For Spinal Muscular Atrophy.

More about Novartis

Within its broader pharmaceutical portfolio, Novartis has active clinical trial programs and drug development efforts across 59 rare diseases, including Acromegaly, Acute Myeloid Leukemia, Alport Syndrome, Amyotrophic Lateral Sclerosis, Aplastic Anemia, and 54 additional rare conditions. These programs may span orphan drug designation, novel therapeutic mechanisms, and precision medicine approaches targeting the underlying causes of each disease.

The clinical trials section below shows active and recruiting rare disease studies sponsored by Novartis, sourced live from ClinicalTrials.gov. Each trial includes its current recruitment status, study phase (Phase 1 through Phase 4), conditions under investigation, and the number of active trial sites.

The FDA-approved drugs section lists treatments that have received U.S. Food and Drug Administration approval, with brand names, generic names, approval dates, and matched rare disease indications from the openFDA database.

Novartis is headquartered in Basel, Switzerland, founded in 1996, publicly traded under the ticker symbol NOVN. The company maintains a dedicated rare disease division alongside its broader therapeutic portfolio, working to bring innovative treatments to patients with conditions that have historically had limited or no treatment options.

Where Novartis trials take place

The trials above run at 2,005 study sites in 58 countries. Tap a country to see its states, cities and hospitals.

United States
470▼
Germany
242▼
Japan
116▼
China
106▼
Spain
103▼
France
102▼
Italy
91▼
Canada
63▼
United Kingdom
57▼
South Korea
50▼
Brazil
49▼
Australia
43▼

Rare diseases Novartis works on

Each disease page lists every open trial, not only Novartis's, plus approved treatments.

Acromegaly

Acromegaly is a rare hormonal disorder caused by excessive growth hormone production, typically from a pituitary adenoma, resulting in abnormal growth of hands, feet, and facial features.

How common: About 50 to 70 people per million, according to NORD, with 3 to 11 new cases per million people each year

Acute Myeloid Leukemia

Acute myeloid leukemia (AML) is a fast-growing cancer of the bone marrow in which immature white blood cells called blasts crowd out normal blood cells, causing fatigue, infections and bleeding...

How common: The National Cancer Institute's SEER program estimates 22,720 new US cases and 11,500 deaths in 2026, about 1.1% of new cancers, and 83,311 people were living with AML in 2023

Alport Syndrome

Alport Syndrome is a genetic disorder that causes progressive damage to the kidneys, ears, and eyes due to defects in a type of collagen that provides structure and flexibility to tissues.

How common: Estimates vary widely

Amyotrophic Lateral Sclerosis

Amyotrophic lateral sclerosis is a progressive neurodegenerative disease destroying motor neurons in the brain and spinal cord.

How common: About 5,000 new cases per year in the U.S.; CDC's National ALS Registry estimates about 33,000 Americans were living with ALS in 2022, a number projected to pass 36,000 by 2030

Aplastic Anemia

Aplastic anemia is a rare bone marrow failure syndrome characterized by pancytopenia resulting from absent or severely reduced hematopoiesis.

How common: 1-2 cases per 1 million people per year

Atypical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome (aHUS) is a rare kidney disease caused by uncontrolled activation of the complement system, a part of the immune system that normally helps fight infection.

How common: Approximately 1-2 cases per million people per year; rare form of HUS accounting for 5-10% of all HUS cases

C3 Glomerulopathy

C3 glomerulopathy is a group of rare kidney diseases caused by dysregulation of the alternative complement pathway, leading to uncontrolled C3 deposition in the glomeruli.

How common: 1 to 2 new cases per million per year; approximately 5,000 to 10,000 affected individuals in the U.S

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is the most common inherited disease of the peripheral nervous system.

How common: About 1 in 2,500 people worldwide, making it the most common inherited neurological disorder

Cholangiocarcinoma

Cholangiocarcinoma is a rare and aggressive cancer that forms in the bile ducts, the thin tubes that carry digestive fluid (bile) from the liver to the small intestine.

How common: About 8,000 new cases per year in the U.S.; rising incidence worldwide

Chronic Graft-versus-Host Disease

Chronic graft-versus-host disease is an immune-mediated complication after allogeneic stem cell or bone marrow transplant, in which donor immune cells attack the recipient's tissues.

How common: Affects 30-70% of patients who receive allogeneic hematopoietic stem cell transplant; about 14,000 Americans were living with chronic GVHD in 2016, according to a claims study funded in part by Kadmon (Bachier et al., Transplantation and Cellular Therapy, 2021)

Corticobasal Degeneration

Corticobasal degeneration is a rare neurodegenerative disorder characterized by asymmetric cortical and basal ganglia pathology with progressive motor and cognitive decline.

How common: About 5 in 100,000 people, with about 1 new case per 100,000 people each year, according to NORD

Cystinosis

Cystinosis is an inherited condition in which the amino acid cystine builds up inside cells and forms crystals that damage organs, especially the kidneys and eyes.

How common: About 1 in 100,000 to 200,000 newborns worldwide (MedlinePlus Genetics), and about 1 in 26,000 in Brittany, France

Dermatomyositis

Dermatomyositis is a rare autoimmune inflammatory disease causing muscle weakness and distinctive skin rashes, particularly over joints.

How common: About 9.6 new cases per million people a year, according to NORD; juvenile-onset incidence about 0.4 cases per 100,000 children

Diffuse Intrinsic Pontine Glioma

Diffuse intrinsic pontine glioma (DIPG) is an aggressive childhood brain tumor that grows in the pons, the part of the brainstem controlling breathing, swallowing, and movement.

How common: About 300 children diagnosed in the U.S. each year, most often between ages 5 and 10

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is an X-linked genetic disorder causing progressive muscle weakness and degeneration, beginning in early childhood.

How common: 1 in 3,500 to 5,000 male births

Essential Thrombocythemia

Essential Thrombocythemia is a myeloproliferative neoplasm characterized by overproduction of platelets by bone marrow, resulting in very high platelet counts.

How common: About 1 new case per 100,000 people each year, with an estimated 30 to 60 per 100,000 living with it (NORD); average age at diagnosis is in the mid-fifties

Fanconi Anemia

Fanconi anemia is a rare inherited bone marrow failure syndrome with cellular hypersensitivity to DNA crosslinking agents.

How common: 1 in 100,000 to 350,000 people; higher in certain populations

Focal Segmental Glomerulosclerosis

Focal Segmental Glomerulosclerosis (FSGS) is a kidney disease characterized by scarring of some glomeruli, the tiny filtering units that remove waste from the blood.

How common: Approximately 7% of all kidney biopsies in the United States show FSGS; incidence is 0.2-1.7 cases per 100,000 person-years

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy (FSHD) is an inherited muscular dystrophy characterized by progressive weakness of the facial, shoulder, and upper arm muscles.

How common: About 1 in 20,000 people (MedlinePlus Genetics); one of the most common hereditary muscular dystrophies

Gastrointestinal Stromal Tumor

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, arising from the interstitial cells of Cajal or their precursors.

How common: About 6,000 new cases per year in the U.S. (American Cancer Society); true incidence may be higher as small GISTs are often incidentally discovered

Geographic Atrophy

Geographic atrophy is the advanced form of dry age-related macular degeneration, characterized by progressive loss of retinal pigment epithelium, photoreceptors, and choriocapillaris in well-defined...

How common: About 1 million people in the U.S. are estimated to have geographic atrophy, the advanced dry form of age-related macular degeneration

Giant Cell Arteritis

Giant Cell Arteritis is a rare inflammatory disease of large and medium-sized arteries, primarily affecting people over 50.

How common: Approximately 10-20 cases per 100,000 people over age 50; incidence increasing with age, peak in 8th decade

Hodgkin Lymphoma

Hodgkin lymphoma is a cancer of the lymphatic system characterized by the presence of abnormal Reed-Sternberg cells.

How common: About 8,920 new cases expected in the U.S. in 2026 (American Cancer Society); approximately 2.6 per 100,000 people

Homozygous Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia is a severe genetic disorder causing extremely high cholesterol levels from birth, leading to early heart disease and cholesterol deposits in tendons and...

How common: Approximately 1 in 250,000 to 1 in 360,000 people globally

Huntington Disease

Huntington disease is an autosomal dominant neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin gene.

How common: About 3-7 per 100,000 people of European ancestry, according to MedlinePlus Genetics; less common in people of Japanese, Chinese and African descent

Idiopathic Pulmonary Fibrosis

Idiopathic pulmonary fibrosis is a chronic, progressive lung disease characterized by scarring (fibrosis) of lung tissue.

How common: About 100,000 people in the U.S., with 30,000 to 40,000 new cases a year (MedlinePlus Genetics)

IgA Nephropathy

IgA nephropathy is the most common primary glomerulonephritis worldwide, caused by abnormal IgA1 antibodies depositing in the kidney's mesangium, activating complement pathways and triggering...

How common: About 2 new cases per 100,000 people each year in the U.S., and an estimated 199,000 to 208,000 Americans were living with IgA nephropathy in 2021 (Otsuka-funded study, Clinical Nephrology, 2025)

Immune Thrombocytopenia

Immune thrombocytopenia (ITP) is a rare autoimmune disorder in which the immune system destroys platelets, the blood cells that stop bleeding, and slows their production.

How common: Estimated 9 to 20 per 100,000 people; children often have a temporary form that resolves within months

Lupus Nephritis

Lupus nephritis is kidney inflammation caused by systemic lupus erythematosus (SLE), in which the immune system attacks the kidneys' filters and, without treatment, can lead to kidney failure.

How common: About 21 per 100,000 people in a Minnesota population study in 2015 (Lupus Midwest Network, 2022)

Mantle Cell Lymphoma

Mantle cell lymphoma is a rare type of non-Hodgkin lymphoma that starts in B cells, a kind of white blood cell.

How common: About 1 in 200,000 people (Cleveland Clinic)

Mastocytosis

Mastocytosis is a rare hematological disorder characterized by clonal expansion of mast cells in bone marrow, organs, and tissues.

How common: 1 in 10,000 to 1 in 300,000 (estimates vary widely)

Medullary Thyroid Cancer

Medullary thyroid cancer (MTC) is a rare neuroendocrine tumor arising from the parafollicular C cells of the thyroid gland, accounting for 2-4% of all thyroid cancers.

How common: Approximately 1,000-1,200 new cases per year in the U.S.; 2-4% of all thyroid cancers

Merkel Cell Carcinoma

Merkel cell carcinoma is a rare, aggressive skin cancer that arises from Merkel cells, specialized touch receptors in the skin.

How common: About 3,000 new cases per year in the U.S.; incidence has tripled over the past 2 decades

Mesothelioma

Mesothelioma is a rare, aggressive cancer that develops in the mesothelium, the thin layer of tissue covering most internal organs.

How common: About 3,000 new cases per year in the U.S

Multiple Myeloma

Multiple myeloma is a cancer of plasma cells, the white blood cells that make antibodies.

How common: About 36,000 new US diagnoses expected in 2026 and roughly 203,000 people living with it, which puts myeloma right at the edge of the US rare disease threshold; it is 1.7% of all new cancers (NCI SEER)

Multiple Sclerosis

Multiple sclerosis is a chronic autoimmune disease where the immune system attacks the protective myelin sheath surrounding nerve fibers in the brain and spinal cord.

How common: Approximately 1 million people in the U.S.; about 1 in 300

Myasthenia Gravis

Myasthenia gravis is a chronic autoimmune neuromuscular disorder causing muscle weakness and rapid fatigue.

How common: 1 in 5,000 people

Myelodysplastic Syndromes

Myelodysplastic syndromes are a group of blood cancers in which the bone marrow fails to produce enough healthy blood cells.

How common: 10,000 to 15,000 new cases annually in the U.S.; estimated 60,000 to 170,000 Americans living with MDS

Myelofibrosis

Myelofibrosis is a myeloproliferative neoplasm in which bone marrow develops scarring (fibrosis), leading to anemia, enlarged spleen, and abnormal blood cell counts.

How common: Approximately 0.5-1.5 cases per 100,000 people; median age of diagnosis is 65 years

Myotonic Dystrophy

Myotonic Dystrophy (DM) is the most common muscular dystrophy in adults, characterized by progressive muscle weakness and myotonia—the inability of muscles to relax after contraction.

How common: Approximately 1 in 3,000 to 1 in 8,000 people globally; higher prevalence in some populations

Neuroendocrine Tumors

Neuroendocrine tumors (NETs) grow from hormone-making cells, most often in the small intestine, pancreas, rectum or lungs.

How common: About 244,000 people in the US were living with a neuroendocrine neoplasm, the wider group that includes NETs, in 2021, with about 8.5 new diagnoses per 100,000 people a year (Dasari et al., JAMA Network Open 2025); an earlier estimate for NETs alone was about 171,000 in 2014 (JAMA Oncology 2017)

Neurofibromatosis Type 1

Neurofibromatosis type 1 is a genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes neurofibromin, a tumor suppressor protein.

How common: 1 in 2,500 to 3,500 people in the U.S., making it one of the most common genetic conditions

Paraganglioma

Paragangliomas are rare neuroendocrine tumors arising from chromaffin tissue outside the adrenal medulla.

How common: 1 in 300,000 to 1,000,000; ~30% are hereditary

Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal Nocturnal Hemoglobinuria is a rare, life-threatening blood disorder where complement-mediated destruction of red blood cells occurs due to acquired mutations in the PIGA gene.

How common: Estimated at 1 to 5 per million people (MedlinePlus Genetics); NORD gives 0.5 to 1.5 per million

Polycystic Kidney Disease

Polycystic Kidney Disease is a genetic disorder characterized by the growth of thousands of cysts in the kidneys, gradually replacing normal kidney tissue and leading to kidney failure.

How common: Autosomal dominant PKD affects about 1 in 400 to 1,000 people worldwide and the recessive form about 1 in 20,000 children; about 500,000 people in the United States have PKD (NIDDK)

Polycythemia Vera

Polycythemia Vera is a myeloproliferative neoplasm in which bone marrow produces too many red blood cells, leading to thick blood that carries oxygen less effectively and increases clot risk.

How common: About 44 to 57 per 100,000 people in the US, from 2 large health plans in 2008 to 2010 (Mehta et al., Leukemia and Lymphoma 2014); median age of diagnosis is 65 years

Progressive Supranuclear Palsy

Progressive supranuclear palsy is a rare atypical Parkinsonian disorder characterized by progressive vertical supranuclear gaze palsy, postural instability, and cognitive decline.

How common: About 6 in 100,000 people worldwide, though the exact number is unknown (MedlinePlus Genetics)

Pulmonary Arterial Hypertension

Pulmonary arterial hypertension is a rare disease characterized by abnormally high blood pressure in the pulmonary arteries, causing progressive heart and lung damage.

How common: About 26 to 52 per million people in a Scottish national study, with about 7 new cases per million people each year (Peacock et al., European Respiratory Journal, 2007)

Sarcoidosis

Sarcoidosis is an inflammatory disease characterized by formation of granulomas (clusters of immune cells) in multiple organs, most commonly the lungs and lymph nodes.

How common: An estimated 150,000 to 200,000 people in the United States, about 60 per 100,000, with rates that vary by ethnicity and geography (NORD)

Sickle Cell Disease

Sickle cell disease is an inherited blood disorder where hemoglobin polymerizes under low oxygen, causing red blood cells to become rigid, sickle-shaped, and prone to hemolysis and vaso-occlusion.

How common: About 100,000 Americans with SCD; about 1 in 365 Black or African American births and 1 in 16,300 Hispanic American births

Sjögren's Syndrome

Sjögren's syndrome is a chronic autoimmune disorder in which the immune system attacks the moisture-producing exocrine glands, primarily the salivary and lacrimal (tear) glands.

How common: Estimated 1 to 4 million Americans (including undiagnosed); approximately 1 in 1,000 adults based on physician-diagnosed prevalence

Spinal Muscular Atrophy

Spinal muscular atrophy is an autosomal recessive genetic disorder affecting motor neurons in the spinal cord, causing progressive muscle weakness and atrophy.

How common: About 1 in 10,000 births; about 1 in 50 people of European or Asian ancestry are carriers of 1 copy of the gene change

Systemic Juvenile Idiopathic Arthritis

Systemic juvenile idiopathic arthritis is a severe autoinflammatory disease characterized by daily spiking fevers, a salmon-pink rash, and joint inflammation.

How common: Accounts for 10-20% of all juvenile idiopathic arthritis cases; estimated 1 in 32,000 children in the U.S

Systemic Mastocytosis

Systemic Mastocytosis is a rare hematologic disorder characterized by accumulation and proliferation of abnormal mast cells in bone marrow, lymphoid tissues, and other organs.

How common: Approximately 1 case per 10,000 to 20,000 people; can occur at any age but more common in adults

Systemic Sclerosis

Systemic sclerosis (scleroderma) is a rare autoimmune disease in which the immune system triggers scarring (fibrosis) of the skin and internal organs while also damaging small blood vessels.

How common: About 276 per million U.S. adults in a large Detroit-area study; about 19 new cases per million adults each year

Thalassemia

Thalassemia is an inherited blood disorder where reduced or absent production of one type of hemoglobin chain causes anemia, from mild or none in carriers to severe in the major forms, where it can...

How common: About 1 in 100,000 people have symptoms of beta thalassemia, according to NORD, most often people with Mediterranean, Middle Eastern, African or Asian roots

Thyroid Eye Disease

Thyroid eye disease (TED) is a rare autoimmune condition in which the immune system attacks the muscles and fat behind the eyes, causing bulging eyes, double vision, pain, and in severe cases vision...

How common: About 16 in 100,000 women and 3 in 100,000 men diagnosed each year; up to half of people with Graves' disease develop some degree of TED

Tuberous Sclerosis

Tuberous sclerosis is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 genes, resulting in dysregulated mTOR signaling and widespread benign tumor growth.

How common: 1 in 6,000 to 1 in 10,000 people

Warm Autoimmune Hemolytic Anemia

Warm autoimmune hemolytic anemia (wAIHA) is a rare autoimmune disease in which the immune system makes antibodies, usually of the IgG type, that stick to red blood cells at normal body temperature...

How common: About 1 to 3 new cases per 100,000 people each year, according to the FDA and NORD

Where to get support

Patient groups can explain a diagnosis, point you to specialists and tell you about trials before they open. Novartis's own site is novartis.com, and our help paying for treatment page lists drugmaker programs and charity funds.

Questions about Novartis