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Raising new hope for Maroteaux-Lamy Syndrome at The Royal Free

Date: 01 May 2018

Doctors at the Royal Free Hospital, have recruited the first patient in the world to a trial which tests a new drug for suffers of Maroteaux-Lamy Syndrome.

Mucopolysaccharidosis VI (MPS VI) is a rare genetic disorder caused by a deficiency in a body enzyme.  Estimated to occur in 1 in 250,000 to 600,000 births, it is often known as Maroteaux-Lamy Syndrome, and takes its name from two French Doctors, Dr. Maroteaux and Dr. Lamy, who first described the condition.

Our bodies constantly replace used materials and break them down for disposal, but MPS VI patients are missing an enzyme essential to breaking down one of these waste products. The non-degraded materials remain stored in the body’s cells, and their build-up causes progressive damage. 

Maroteaux-Lamy Syndrome has a wide range of symptoms that can include neurological complications, heart-diseases, clouded corneas, deafness, liver, spleen and lung problems, pain from compressed or traumatised nerves and thickening of the membrane that surrounds and protects the brain and spinal cord.

Enzyme Replacement Therapy (ERT) and Hematopoietic Stem Cell Transplantation (HSCT) are the only options currently available for treatment.   These options are limited as to what they can improve and can be high-risk or expensive.

ERT uses an intravenous solution to replace the missing enzyme but whilst it can slow progression, does not halt symptoms of the disease.  HSCT treatment involves a more dangerous, blood stem-cell transplant and can improve some aspects as well as prevent further heart and lung deterioration.  However, HSCT has not been able to effectively treat skeletal abnormalities, and neither treatment offer a cure.  

Doctors at the Royal Free, part of the Royal Free London NHS Foundation Trust, have recently started a clinical trial to test the effectiveness of a new drug treatment for the syndrome.  The drug, ‘Odiparcil’, has been developed by a company called Inventiva, and the company-sponsored trial, known as ‘iMProveS’, has been adopted onto the NIHR portfolio of studies.

“Odiparcil is the first new treatment in development for MPS VI patients in over a decade and is a potential significant step forward for patients,” said Jean-Louis Abitbol, Inventiva’s Chief Medical Officer and Head of Development.

The trial is investigating the safety and efficacy of the drug and considering whether the drug could become standard care for MPS VI.   Running globally, the research team at The Royal Free Hospital were the first in the World to enroll a patient to this study.  The team are now looking for previously untreated patients or patients who have only received a bone marrow transplant to progress the study.

Dr Derralynn Hughes, Principle Investigator, and leader of the trial at the Royal Free said;

“Current enzyme replacement therapy requires weekly infusions, so any drug that could be taken orally may increase the quality of life of patients.  An oral drug may help in tissues and organs where current enzyme replacement therapy is not effective and so this might make a meaningful improvement to patients’ with MPS VI’s lives”.

Results from the study are expected in 2019.

  • Summary:
    The first new treatment in development for MPS patients in over a decade is a potential leap forward for sufferers
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    Research
  • LCRN:
    North Thames
  • Year of publication:
    2018
  • Specialty:
    • Children
    • Genetics
    • Very rare diseases
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