Emerge Health

metabolic / genetic
& rare diseases

rare diseases is our core

metabolic
 
Emerge Health, founded in 2010 and based in Melbourne, is a small Australian pharmaceutical company committed to searching for and financing niche and orphan designated pharmaceutical products to treat life threatening and rare diseases where current therapy is unavailable or inadequate.
 
Emerge Health has partnered with a leading orphan drug pharmaceutical company in Europe called Orphan Europe which is dedicated to the research, development and marketing of treatments for rare diseases.
 

A “rare” disease is any disorder or condition that is life-threatening or a chronically debilitating disease with an estimated prevalence of 1 in 10,000 . Rare diseases often have a high level of complexity that require special combined efforts to ensure an effective treatment can be achieved.

 
Unfortunately there is a general perception in the community that rare diseases have minimal impact and are therefore considered less important and a low priority for research. Paradoxically, however, rare diseases are common. There are approximately 8,000 known rare diseases, collectively affecting up to 6%-10% of the population or over 2 million Australians including ~400,000 Australian children.
 
The company markets treatments mostly for inborn errors of metabolism.
 
Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
 
A food product that is not broken down into energy can build up in the body and cause a wide array of symptoms. Several inborn errors of metabolism cause developmental delay if not controlled.
 

At present, Emerge Health supplied treatments predominantly for inborn errors of metabolism.

 

Rare Diseases

Acute Hepatic Porphyria

The porphyrias are a group of inherited disorders that affect the body’s biosynthesis of haem, which is vital for red blood cells to carry oxygen. Deficiencies occur in specific enzymes leading to the accumulation of different substances called porphyrins and porphyrin precursors.
 
Acute hepatic porphyria causes acute attacks, unpleasant symptoms that usually have a rapid onset and last for a relatively short period. These are uncommon and are associated with a non-specific clinical presentation hence making diagnosis difficult.
 

Homocystinuria

Homocystinuria is an inherited metabolic disorder involving the way the body processes methionine, an amino acid. Amino acids are the building blocks of proteins. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause.
 

Hyperammonaemia due to NAGS, IVA, MMA or PA

Hyperammonemia (or hyperammonaemia) is a metabolic disturbance characterised by an excess of ammonia in the blood. It is a dangerous condition that may lead to encephalopathy and death.
 

NAGS deficiency

NAGS deficiency is a very rare disorder and is known as the rarest of the urea cycle disorder (UCD).
 

Organic acidaemias (IVA, MMA or PA)

An organic acidamia is a genetic disorder caused by a genetic mutation that disrupts normal amino acid metabolism. Amino acids (such as isoloeucine, valine, leucine, lysine and tryptophan) are broken down from the food we eat. 
 

Products

 

Acute Hepatic Porphyria

Emerge Health has access to medicines for the treatment of acute attacks of hepatic porphyria (acute intermittent porphyria, porphyria variegata, hereditary co-proporphyria).
For more information on products for acute hepatic porphyria, please log on to the secure site.
 

Cystadane

Adjunctive treatment of homocystinuria, involving deficiencies or defects in:
• cystathionine beta-synthase (CBS),
• 5,10-methylene-tetrahydrofolate reductase (MTHFR),
• cobalamin cofactor metabolism (cbl).
 
Cystadane should be used as supplement to other therapies such as vitamin B6 (pyridoxine), vitamin B12 (cobalamin), folate and a specific diet.
 

Carbaglu

Carbaglu is indicated in the treatment of
• hyperammonaemia due to N-acetylglutamate synthase primary deficiency.
• hyperammonaemia due to isovaleric acidaemia.
• hyperammonaemia due to methymalonic acidaemia.
• hyperammonaemia due to propionic acidaemia.
 
 
For information on this product specific to Australian healthcare professionals, including clinical and therapy resources, please visit metabolic.emergehealth.com.au

Want access to our healthcare professional resources?

Register Now
This medical information is intended only for healthcare professionals in Australia. The products discussed herein may have different product labelling in other countries.
The information within this site is intended to provide balanced, scientific, and evidence based answers to unsolicited medical questions. This resource may discuss regimens that have not been approved by Australia's Therapeutic Goods Administration. For full Product Information including indications, contraindications, warnings, precautions, and adverse events, please see the appropriate product labelling. This information is not intended as medical advice. Responsibility for patient care resides with the healthcare professional on the basis of his or her professional licence, experience and knowledge of the patient.