Report: Pompe Patient & Family Meeting in Seattle, Washington

Category: Archive
May 26, 2011

A personal report by Hillary Lerch Gibson

Saturday, May 21, 2011 there was a Pompe Patient & Family Meeting in Seattle, Washington. It was a great meeting with 5 adult-onset patients, family members, representatives from industry, and healthcare professionals. Here’s my summary:


BIOMARIN – Barbara Wuebbels & Jon LeBowitz

Founded in 1997 & now has 900 employees. Their experimental Pompe enzyme replacement therapy infusion drug is referred to as BMN701. This technology (GILT – Glycosylation Independent Lysosomal Targeting) was researched at Zystor, which was subsequently purchased by BioMarin. BMN701 shows improved delivery to lysosomes via a peptide tag – this patented peptide tag targets the lysosome. All other properties are equal to Myozyme (GAA) except that BMN701 has more efficient delivery/superior uptake. In mice, a dose 5x lower than Myozyme has the same effects, so theoretically, a lower dose would be required. In mice BMN701 is better at reducing glycogen storage.

BioMarin has started a trial to study whether or not the superior uptake has an effect on improvement of the disease. The trial currently has 3 patients enrolled, and an additional site at UC San Diego is opening this week. Trial BMN-001 will be in the US,UK, EU & will have 30 late onset patients, all will get the drug at 1 of 3 dose levels. The main goal of this phase of the study is to measure antibody response – the need to measure antibody response is why they cannot accept patients that have ever been on Myozyme/Lumizyme, as those patients will already have antibodies. In the next phase (final phase) there will be 30-40 worldwide sites and it MAY be possible for patients who have had Myozyme/Lumizyme to be eligible. As always, check www.clinicaltrials.gov for more information on any Pompe study.


AMICUS – Jayne Gershkowitz & Mathews Adera

The Amicus study AT2220 has had the clinical hold lifted and will conduct a “Proof of Concept Study” – will be a 1 month study with 16 patients, age range 18-65 years old, each on a stable dose of MZ for 3+ months prior, and will involve a minimally invasive muscle punch biopsy (NOT a traditional muscle biopsy) . Studying co-administration of chaperone therapy (oral) + ERT (infusion), aka combo-therapy (Phase 2a of AT2220). Hope to have preliminary results end of 2011. If the results are positive, then the next phase will be a longer term study. The 1 month study is not for clinical benefit – the goal is to advance the concept forward. The chaperone drug will either be via a pill or mixed into the IV bag with the MZ. Studies show that the chaperone stabilizes the MZ, increases the half-life, and increases MZ tissue levels in mice.


PHYSICAL THERAPY – Cinda Hugos [Physical Therapist at Oregon Health & Science University]

We are designed to move! Goals of exercise/PT for Pompe:

  • maintain & improve strength & endurance
  • prevent & minimize development of contractures & deformities (esp hip/knee which contract when sitting)
  • maintain & improve function
  • participate in activities with family & friends

Submaximal exercise (65%) may stimulate degradation of glycogen – aerobic exercise & good nutrition may help clear glycogen from muscle and allow gains in strength & function.

There is not a lot of info on Pompe, so Cinda suggests applying what we know from other neuromuscular diseases.

General principles – submaximal exercise, avoid excessive resistance & eccentric moves, monitor cardio-pulmonary response. Eccentric moves are lengthening contractions, such as lowering a weight in your arm – can’t avoid completely, but suggests using light weights or resistance bands for extremity strengthening. Maintain rib-cage mobility for optimal respiratory function, stretch daily to increase range of motion, use equipment as needed.

Avoid – overwork weakness (don’t work to exhaustion), avoid disuse atrophy, avoid excessive fatigue.

Good aerobic exercises are walking, water exercise (watch out for pulm fxn), and cycling. Helpful equipment – treadmill, recumbent bike, elliptical trainer, inspiratory muscle trainer (lung expansion/rib cage mobility).

Assistive devices – canes, orthotics, scooters, power wheelchairs (one patient has enjoyed a Segway to get to her son’s soccer games).

[US only:] Ask your insurance provider for a case manager – they are usually nurses and can be good advocates for you with your insurance company. In the US, your state’s Department of Vocational Rehab may help purchase equipment that keeps you working with your disability.


Disclaimer: The IPA does not endorse any of the products, medications, treatments or information reported herein. This news article is intended for informational purposes, only. We strongly advise that you discuss all medications, treatments, and/or products with your physician.

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