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Pompe Disease (GSD2)

Research & Development

Much research has been focussed on developing enzyme replacement therapy (ERT) and various ways to enhance it. Gene therapy is also an important area for attention.

Sharing knowledge on diet

The AGSD-UK’s Specialist Care Advisor, Jane Lewthwaite, convened a meeting for all UK dieticians working with people affected by Pompe disease both infantile- and late-onset in July 2018. The purpose was to share common knowledge, produce agreed guidance and encourage universal access to dietetic help.

There was agreement at the meeting that reliable information and research was patchy, often dated and had small sample sizes. In fact, we needed to answer a question: “What do we know and where are the gaps?”

Past research: Enzyme Replacement Therapy

A turning point in the search for a therapy for Pompe disease was made in 1996 by a team of researchers, Drs Ans van der Ploeg and Arnold Reuser, at the Erasmus Medical Center, Rotterdam. The team proved that Enzyme Replacement Therapy for Pompe disease was viable after using an AGSD-UK grant to build a small bioreactor.

To quote the principal researcher,Dr Arnold Reuser:

“With this equipment we proved the principle of Enzyme Replacement Therapy for Pompe disease”.

AGSD-UK also provided the University of Manchester Medical School with funding to investigate the “Role of inhibitory antibodies in patients with LSDs undergoing ERT”.

In the final report’s summary statement the authors state:

“Our detection assay provides us with information about the presence of antibodies in ERT (Myozyme) treated patients and enzyme inhibition assays determine the neutralization of enzyme by antibody and blocking of enzyme uptake by affected cells.

“We have developed assays which can detect the presence of immune response in ERT treated patients and quantify the neutralization of ERT by these antibodies. This is an incredibly useful tool for the clinician as these assays can predict the treatment failure in Pompe disease patients.”

Current work: survey of dietetic services

Abibat Gbadamosi, dietician, Royal Free Hospital London, is currently conducting a survey to collate comments from all the Highly Specialist Medical Centres about the dietetic services they offer. She is also, supported by AGSD-UK funding, conducting a literature review and appraisal. Once complete it will be possible to scope new research projects.