PTC Therapeutics

Aromatic L-Amino Acid Decarboxylase Deficiency

AADC deficiency is a rare inherited neurological disorder that affects the brain's ability to produce dopamine and serotonin, leading to severe developmental delays, movement problems, and...

How common: Extremely rare; estimated 1 in 42,000 to 1 in 190,000 births in the U.S., with higher prevalence in Asian populations

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

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

Becker Muscular Dystrophy

Becker Muscular Dystrophy (BMD) is an X-linked inherited muscular dystrophy caused by mutations in the dystrophin gene that produce a partially functional dystrophin protein.

How common: Approximately 1 to 5 per 100,000 males; about 1/3 to 1/2 the prevalence of Duchenne Muscular Dystrophy

Cystic Fibrosis

Cystic fibrosis is an autosomal recessive genetic disorder affecting the CFTR protein, which normally regulates chloride transport.

How common: Nearly 40,000 children and adults in the U.S.; 1 in 2,500 to 3,500 births among Caucasians

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

Dravet Syndrome

Dravet Syndrome is a severe form of epilepsy that typically begins in infancy with prolonged seizures triggered by fever.

How common: Approximately 1 in 16,000 to 40,000 people, accounting for 5-10% of early infantile epileptic encephalopathies

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

Fabry Disease

Fabry disease is a rare inherited lysosomal storage disorder where a missing enzyme causes fatty substances called globotriaosylceramide to accumulate in cells throughout the body.

How common: 1 in 40,000 to 60,000 males; higher in females when accounting for carrier status

Friedreich Ataxia

Friedreich ataxia is an autosomal recessive neurodegenerative disease causing progressive damage to the nervous system, resulting in loss of coordination (ataxia), weakness, and heart problems.

How common: 1 in 50,000 people

Gastroparesis

Gastroparesis is a condition in which the stomach empties food too slowly even though nothing is blocking it, causing early fullness, nausea, vomiting, bloating and upper belly pain.

How common: In a Minnesota population study cited by the NIDDK, about 10 men and 40 women per 100,000 had diagnosed gastroparesis

Hemophilia A

Hemophilia A is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor VIII.

How common: 1 in 4,000 to 5,000 males worldwide; very rare in females

Hemophilia B

Hemophilia B is an X-linked bleeding disorder caused by deficiency or dysfunction of clotting factor IX.

How common: 1 in 25,000 to 33,000 males; very rare in females

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

Leigh Syndrome

Leigh syndrome is a rare inherited disorder in which the mitochondria, the parts of cells that make energy, cannot supply enough energy to the brain.

How common: At least 1 in 40,000 newborns; far more common in a few populations, such as 1 in 2,000 in the Saguenay-Lac-Saint-Jean region of Quebec

Limb-Girdle Muscular Dystrophy

Limb-Girdle Muscular Dystrophy (LGMD) refers to a genetically heterogeneous group of muscular dystrophies characterized by progressive weakness of the hip and shoulder girdle muscles.

How common: Approximately 1 per 14,500 to 1 per 123,000 people depending on geographic region; exact prevalence varies by subtype

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

Phenylketonuria

Phenylketonuria is an inherited metabolic disorder caused by a missing enzyme that prevents the body from properly breaking down the amino acid phenylalanine.

How common: 1 in 13,500 to 19,000 newborns in the U.S., based on newborn screening (NORD); MedlinePlus Genetics puts it at 1 in 25,000

RET Fusion Cancer

RET fusion cancers are a group of rare tumors driven by chromosomal rearrangements that fuse the RET gene with a partner gene, creating an abnormal protein that drives uncontrolled cell growth.

How common: RET fusions occur in 1-2% of non-small cell lung cancers (roughly 2,300-4,600 new cases per year in the U.S.), 7-12% of papillary thyroid cancers (higher in pediatric cases), and rarely in other tumor types

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