Drug trial brings new hope for sufferers of rare genetic disorder, Spinal Muscular Atrophy

Experts and concern groups have said it is an “exciting time” for sufferers, as three Hong Kong children have been part of a clinic trial for new treatment

PUBLISHED : Monday, 15 August, 2016, 12:01am
UPDATED : Monday, 15 August, 2016, 12:01am

Three children from Hong Kong are taking part in a clinic trial for a drug which could bring new hope for sufferers of a rare and currently incurable genetic disorder.

Experts and concern groups have said it is an “exciting time” for sufferers of Spinal Muscular Atrophy (SMA), and hope the city’s experience could play a role in helping patients across the country in the future.

SMA, a disease which gradually destroys a patient’s physical strength, can leave sufferers unable to walk or even breathe.

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Without any available treatment, patients can only rely on therapies such as physiotherapy to slow the physical degradation.

The Hospital Authority said around 100 SMA patients in total have been treated in Hong Kong’s public hospitals in the past four years.

“We are very positive and are really looking forward to the new drug,” said Wenus Chan, whose 5-year-old son is an SMA patient.

The three Hong Kong SMA patients, whose identities have been kept confidential, have been on the trial for the drug for around six months in Queen Mary Hospital.

They are among the 126 patients from 11 countries or regions which have taken part in the new study.

The drug, Nusinersen, was ­designed to increase the production of a protein named survival motor neuron – a key to the functioning of nerves that control muscles – and is injected into the spine. SMA patients do not have enough of the protein, and it can lead to fatal muscle weakness.

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Professor Kathryn Swoboda from Massachusetts General Hospital in the United States, who has been studying Nusinersen, expected the drug could be released into the market as early as June next year.

“It is truly an exciting time for rare diseases in general to see this moving forward so successfully,” said Swoboda when attending an SMA seminar in the city last week.

Dr John Bach from Rutgers New Jersey Medical School said the city could provide insights into patients elsewhere.

“[Queen Mary Hospital] is far in advance of 99 per cent of centres in the United States,” he said.

Fok Mei-ling, founder of Families of SMA Charitable Trust, hoped the city’s clinical trial experience could help patients across the border.