Dysautonomia International

Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)

Purpose

The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.

Condition

Pompe Disease

Eligibility

Eligible Ages: Over 18 Years
Eligible Sex: All
Accepts Healthy Volunteers: No

Inclusion Criteria

Participant must be ≥18 years of age and ≥40 kilograms (kg) of body weight at the time of signing the informed consent. - Participant must have a diagnosis of LOPD based on documentation of 1 of the following: 1. Deficiency of acid alpha-glucosidase (GAA) enzyme 2. GAA genotype - Participant has a %FVC ≥30% and ≤80% in an upright position without mechanical ventilation at screening; or Participant has ≥10% %FVC drop from upright position to supine position and %FVC ≥20% in a supine position. - Participant performs the 6MWT at screening, as determined by the clinical evaluator, and meets all of the following criteria: 1. Screening values of 6-minute walk distance (6MWD) are ≥75 meters 2. Screening values of 6MWD are ≤90% of the predicted value for healthy adults - Participants must be ERT-experienced, defined as currently receiving ERT and having been receiving ERT for ≥24 months, with no regimen change in the last 6 months.

Exclusion Criteria

Has a medical condition or any other extenuating circumstance that may pose an undue safety risk to the participant or may compromise his/her ability to comply with or adversely impact protocol requirements. - Has active infections at screening. - Malignancy within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years. - Current or chronic history of liver disease. - Known biallelic loss of function mutations whether in glycogenin gene (GYG) or in glycogen phosphorylase muscle associated gene(PYGM) . - Has received any investigational therapy or pharmacological treatment for Pompe disease, within 30 days or 5 half-lives of the therapy or treatment, whichever is longer, before day 1 or is anticipated to do so during the study. - Has received gene therapy or small interfering ribonucleic acid (RNA) therapy for Pompe disease. - Participant, if female, is pregnant or breastfeeding at screening. - Participant, whether male or female, is planning to conceive a child during the study. Note: Other protocol-specified inclusion and exclusion criteria may apply.

Study Design

Phase: Phase 2
Study Type: Interventional
Allocation: Randomized
Intervention Model: Parallel Assignment
Primary Purpose: Treatment
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)

Arm Groups

Arm	Description	Assigned Intervention
Experimental S-606001 Low Dose	Participants will receive S-606001 at a low dose level twice daily (BID) after a meal for 52 weeks.	Drug: S-606001 S-606001 administered orally
Experimental S-606001 High Dose	Participants will receive S-606001 at a high dose level BID after a meal for 52 weeks.	Drug: S-606001 S-606001 administered orally
Placebo Comparator Placebo	Participants will receive S-606001 matching placebo BID after a meal for 52 weeks.	Drug: Placebo S-606001 matching placebo administered orally

Recruiting Locations

University of California - Irvine Medical Center
Irvine 5359777, California 5332921 92868

University of Florida (UF) - Gainesville
Gainesville 4156404, Florida 4155751 32611

Washington University in St. Louis
St Louis 4407066, Missouri 4398678 63130

Cincinnati Children's Hospital Medical Center
Cincinnati 4508722, Ohio 5165418 45229

University of Pittsburgh School of Medicine
Pittsburgh 5206379, Pennsylvania 6254927 15213

Lysosomal and Rare Disorders Research and Treatment Center (LDRTC)
Fairfax 4758023, Virginia 6254928 22030

More Details

Status: Recruiting
Sponsor: Shionogi

Study Contact

Shionogi Clinical Trials Administrator Clinical Support Help Line
800-849-9707
Shionogiclintrials-admin@shionogi.co.jp

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.