Clinical Research Alert: Clinical Study for Adults with Late-Onset Pompe Disease (LOPD)

Researchers at Shionogi Inc. are conducting a phase 2 clinical trial for adults with late-onset Pompe disease (LOPD) who are receiving standard-of-care enzyme replacement therapy (ERT). The study will evaluate the safety, effectiveness, and processing in the body of the investigational drug S-606001 when used as an add-on to ERT.

S-606001 blocks an enzyme involved in glycogen production. In Pompe disease, glycogen builds up in muscle cells and causes damage. By reducing glycogen production, S-606001 may help limit this buildup and slow declines in muscle strength and lung function in people receiving ERT.

The study

The is a multinational, multicenter, randomized, double-blind, placebo-controlled, parallel group study, meaning that cohorts of participants at multiple international sites will be randomly assigned to receive either the study drug or an inactive placebo control. Approximately 45 participants with LOPD will be enrolled in North America, the United Kingdom and Europe (3 cohorts).

The study includes a screening period of up to 4 weeks, a 52-week treatment period, and a follow-up period of up to 1 week. During treatment, participants will visit the study site every 2 weeks for the first month, every 4 weeks until month 6, and every 6 weeks through week 52, for a total of 13 visits.

Participants who complete the study may be eligible to enroll in an extension study, in which all participants will receive the treatment. Those who do not enroll in the extension study will complete one final follow-up visit.

The drug/placebo will be administered orally (by mouth). The effect of S-606001 will be evaluated by a number of tests and assessments including, but not limited to: brief physical examination, pregnancy test (if applicable), laboratory tests, 12-lead ECG, urinary Hex-4, and other clinical assessments conducted at different periods during the study as outlined in the approved protocol.

Study criteria

To be eligible, individuals must meet the following inclusion criteria:

• ≥18 years of age and ≥40 kilograms (kg) of body weight at the time of signing the informed consent
• Has a documented diagnosis of LOPD
• Has a %FVC ≥30% and ≤80% in an upright position without mechanical ventilation at screening; or ≥10% %FVC drop from upright position to supine position and %FVC ≥20% in a supine position
• Performs the 6MWT at screening and meets criteria specified by evaluator
• Must be currently receiving ERT and have been receiving ERT for ≥24 months, with no regimen change in the last 6 months

Additional eligibility criteria may apply. Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

Travel support is available for eligible participants and their families.

To learn more about the study or inquire about participation, please visit the sponsor’s trial website or contact the Senior Director of Patient Advocacy by email: Matt.Alsante@shionogi.com.

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