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New Hope for Morquio A Patients and Their Families

In 2014, the first ever treatment for Morquio A Syndrome was approved in the US, European Union, and Canada. Vimizim, created by Biomarin Pharmaceuticals, is a synthetic version of the GALNS enzyme that patients are lacking in their blood. This enzyme replacement therapy (ERT) was fast-tracked through the approval process in both the US and Canada because of the tremendous unmet need the treatment provided patients. Clinical trial results were very promising, with patients seeing a sizeable increase in endurance, an excellent indicator for how well the treatment works. Endurance measures how well a patient’s body is performing. From heart to bones to pulmonary function, increased endurance…

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 What I Want People to Understand About Having Morquio A

My biggest thing is for people to understand that being diagnosed with Morquio A is not the end of the world. Some people think it’s a terrible thing, they hate the disease — get that hate out of you. You don’t want to spread it to your child who may have been diagnosed. There’s times when it’s not fun, sure. When I’m in surgery, yeah I wish I didn’t have it, but there are benefits you’ll see once you accept the diagnosis and begin to meet others. That’s what I hope other people take away and understand — it’s not the end of the world.

Articles of Interest

Beyond Morquio Syndrome: The Art of Thriving With a Rare Disease

The disease gets worse over time, and currently, there is no cure. But weekly infusion therapy, which replaces the body’s missing enzymes, can slow its progression. Many people with Morquio syndrome need other interventions too, like surgeries for orthopedic conditions.

Cause and effects of MPS IV: an overview

Mucopolysaccharidosis (MPS) IV, or Morquio syndrome, is a progressive, multisystemic lysosomal storage disorder resulting from a deficiency of the enzymes N-acetylgalactosamine 6-sulfatase or β-galactosidase that are responsible for the catabolism of glycosaminoglycans (GAGs), which are involved in the building of bones, cartilage, skin, tendons and many other tissues in the body. Two distinct forms are recognised: type A (MPS IVA, Morquio A) and type B (MPS IVB). These types differ in the genetic cause of disease, but signs and symptoms among these forms can be similar and present across the spectrum of disease progression

Current therapies for Morquio A syndrome and their clinical outcomes

Morquio A syndrome is characterized by a unique skeletal dysplasia, leading to short neck and trunk, pectus carinatum, laxity of joints, kyphoscoliosis, and tracheal obstruction. Cervical spinal cord compression/inability, a restrictive and obstructive airway, and/or bone deformity and imbalance of growth, are life-threatening to Morquio A patients, leading to a high morbidity and mortality.

Energetic, Determined and Fearless: Meet Taylor

A genetic disorder may have taken 15-year-old Taylor’s ability to walk and kept her small in stature, but that hasn’t slowed her down.

Gene Therapy for Morquio A Syndrome Shows Promise in Slowing Progression of Disease in Preclinical Model

Morquio syndrome Type A is a rare lysosomal storage disease characterized by short stature, a large head, severe scoliosis, cervical spinal cord compression, tracheal obstruction, distinctive facial features and in some cases, heart, liver and vision problems. Morquio A syndrome is estimated to occur in one in 250,000 births worldwide. About 500 people in the U.S. are known to have Morquio A syndrome. The disease may not be apparent at birth; symptoms may become noticeable between ages 1 and 3 and get worse as the child grows.

Living with Morquio syndrome

Morquio syndrome is a variant of the rare disease mucopolysaccharidosis. In Mexico, gaining access to treatment, which is often not covered by health insurers, is the first hurdle for those affected. The FT's Jude Webber meets three siblings with the condition.

Meet Titus and Zane, the two brothers on a mission to help other children living with Morquio Syndrome!

Morquio Syndrome impacts physical growth and development, but not cognitive abilities. With the help of Children’s Therapy T.E.A.M., Titus and Zane are gaining abilities to help them improve their strength and mobility.

Morquio A Syndrome: Diagnosis and Current and Future Therapies

Morquio A syndrome is an autosomal recessive disorder, one of 50 lysosomal storage diseases (LSDs), and is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Deficiency of this enzyme causes specific glycosaminoglycan (GAG) accumulation: keratan sulfate (KS) and chondroitin-6-sulfate (C6S). The majority of KS is produced in the cartilage, therefore, the undegraded substrates accumulate mainly in cartilage and in its extracelluar matrix (ECM), causing direct leads to direct impact on cartilage and bone development and leading to the resultant systemic skeletal spondyloepiphyseal dysplasia.

Morquio Syndrome

Morquio syndrome (also called Mucopolysaccharidosis type 4), a spondylo-epiphysometaphyseal dysplasia, is the second most common type of dwarfism in Quebec. The condition, which causes severe dwarfism, is due to mutations in the GALNS gene (in type A of the diagnosis) and the GLB1 gene (in type B of the diagnosis). It results in a defect in the degradation of a mucopolysaccharide (sugar class), also called keratan sulfate. Growth stops rapidly (at about 8 to 10 years of age), so the average adult height is between 100 cm and 125 cm (3'4" and 4'2").

Morquio Syndrome Natural History

Morquio Syndrome is one of the mucopolysaccharide storage disorders. It affects around 1 in every 200,000 individuals, is pan ethnic, but varies in incidence quite markedly among different populations. Originally there were two subtypes distinguished as being caused by two different enzyme deficiencies. However, what had been termed “type B” is no longer considered to be Morquio Syndrome. Therefore Morquio Syndrome, Morquio Syndrome A, Morquio Syndrome Type A and mucopolysaccharidosis type IVA all refer to the same process. As for most mucopolysaccharidoses, signs and symptoms are not present neonatally. Problems are usually first suspected by around 1-3 years of age and diagnostic confirmation is usually further delayed, most often occurring between 3 y and 10y of age (mean ~5 y). Typically first recognized features are gait abnormalities, abnormal leg position, chest deformity and/or slowing of growth.

Morquio Syndrome: 'Without the drug, I know I don’t have long left'

Untreated, it leads to the progressive deterioration of mobility, health and stamina. Sufferers rarely live beyond their 20s. However, in 2008 Archie and Isaac started on a clinical trial for a new drug treatment – the first ever for this rare condition. The drug, Vimizin, replaces a missing enzyme, the cause of the disabilities and health problems, and the results – for Archie, Isaac and all the patients involved in the trial – were impressive. Vimizim was so effective that it was licensed by the European Medicines Agency in April 2014.

MPS Disorders (Hunter / Hurler / Morquio) at a Glance

MPS disorders are the most common (1 in 25,000 births) of the LSDs, but there are more than 40 known types.

MPS IVA

Morquio A syndrome is a progressive disease affecting many body systems, with debilitating manifestations including skeletal abnormalities, vision and hearing loss, and cardiac and respiratory impairment.

MPS IVA, Morquio A Disease

MPS IVA is caused by mutations (changes) in the GALNS gene. This gene provides instructions for producing enzymes that play a role in the breakdown of large sugar molecules called glycosaminoglycans (GAGs), formally known as mucopolysaccharides. Mutations (changes) in the GALNS gene reduces or eliminates the activity of the enzymes produced from the gene. This leads to a build-up of GAGs within the cells, inside the lysosomes. Lysosomes are sections in the cell that break down and recycle different types of molecules. In this condition, GAGs build up to toxic levels in different tissues and organs, in particular the bones. This leads to bone deformities associated with this disorder.

Mucopolysaccharidosis IV

Mucopolysaccharidosis IV (MPS IV) is a mucopolysaccharide storage disease that exists in two forms (MPS IVA and MPS IVB). These are autosomal recessive genetic conditions that comprise a continuum consisting of a severe form with rapid progression and another slowly progressing form. The severe form becomes apparent between the ages of one and three and typically presents with knock-knees and breastbone prominence. The slowly progressing form, which may not become apparent until adolescence, presents with hip pain and stiffness.

NHS England negotiates price cuts for ultra-rare Morquio A syndrome drugs

People in England who suffer from the ultra-rare Morquio A syndrome should in future be able to access the only drug for their condition after a ground-breaking agreement was reached between NHS England and the manufacturer. NHS England has successfully negotiated a deal on elosulfase alfa (brand name Vimizim) with manufacturers BioMarin Pharma. The five year, fixed-fee agreement – which is the first of its kind but could provide a model for future decisions on high-cost treatments for rare conditions – will see a managed access scheme put in place for patients, as well as a mechanism to monitor how well the medicine has worked in practice before future funding decisions are taken.

What is Morquio A?

Enzyme activity testing is considered the “gold standard” for diagnosing Morquio A. Usually done by analyzing a person’s blood, the enzyme test measures the activity of GALNS in the body.

What is Morquio syndrome?

Morquio syndrome, also known as MPS IVA, is an inherited condition that affects bone development and restricts growth. It is a recessively inherited disease meaning that if both parents carry the particular gene, their child has a 25% chance of developing the condition.

Resources

Issac Foundation

If you would like assistance obtaining VIMIZIM treatment in Canada, please don’t hesitate to contact us and we will do whatever we can to assist.

Vimizim

VIMIZIM® (elosulfase alfa) is indicated for patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome).

Morquio.com

The body constantly replaces used materials and breaks them down for disposal. MPS IV patients are missing an enzyme essential to breaking down the mucopolysaccharide keratan sulfate. These materials remain stored in the body’s cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear.

Morquiosity

Connecting and educating the Morquio A community.

MPS Society

MPS IV, known as Morquio disease, is one of the mucopolysaccharide storage diseases. MPS IV disease was first identified by Dr Morquio in 1929 and includes 2 different types A and B. Mucopolysaccharides are long chains of sugar molecules used in the building of bones, cartilage, skin, tendons and many other tissues in the body. In the course of normal life there is a continuous recycling process of building new mucopolysaccharides and breaking down old ones.

National MPS Society

Mucopolysaccharidosis IV (MPS IV; pronounced “mew·ko·pol·ee·sak·ah·ri·doh·sis four”) is a rare genetic disorder characterized by short stature and severe bone disease. It is also known as Morquio syndrome, named after Dr. Morquio, a pediatrician in Montevideo, Uruguay. In 1929, Dr. Morquio described a family of four children affected by this condition. The same year, Dr. Brailsford from Birmingham, England, also described the same characteristics. Consequently, it is sometimes known as Morquio-Brailsford syndrome.

Radiopaedia

Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV.