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Looking for participantsPhase2

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

Sponsor: Shionogi

NCT ID: NCT07123155

View on ClinicalTrials.gov ↗

At a glance

What the study gets you
Access to the study treatment being tested
Type of study
Interventional (receives a drug or procedure)
Time in hospital
In-person visits at study sites — visit count not specified by the sponsor
Drug or intervention
S-606001 (drug), Placebo (drug)
How long the study runs
Study runs about 22 months (dates as stated)
About the drug or intervention
S-606001 — drug: S-606001 administered orally · Placebo — drug: S-606001 matching placebo administered orally
Patient visit burden
Not specified by the sponsor

In plain English

This study is testing a new medicine called S-606001 in adults with late-onset Pompe disease (LOPD), a condition where the body cannot break down a substance called glycogen properly. The medicine will be given in addition to the enzyme replacement therapy (ERT) that participants are already taking. The study is run by the company Shionogi.

Who can take part

  • Age 18 or over and weighing at least 40 kilograms
  • A confirmed diagnosis of late-onset Pompe disease, based on either a blood test showing low levels of an enzyme called acid alpha-glucosidase (GAA) or genetic testing
  • Breathing tests within a set range, measured sitting upright, or a set drop in breathing test results when lying down
  • Able to walk between 75 metres and up to 90% of the distance expected for a healthy adult in a 6-minute walk test
  • Already taking enzyme replacement therapy (ERT) for at least 24 months, with no change to the treatment in the last 6 months

Who may not be able to

  • Any other medical condition or circumstance that could pose a safety risk or affect the ability to follow the study rules
  • An active infection at the screening visit
  • Cancer in the past 5 years, apart from certain fully treated skin cancers
  • Current or long-term liver disease
  • Certain inherited gene changes affecting glycogen (in the GYG or PYGM genes)
  • Taking another experimental Pompe treatment recently or planning to during the study
  • Having had gene therapy or small interfering RNA therapy for Pompe disease
  • Being pregnant or breastfeeding, or planning to have a child during the study

What taking part involves

  • • Taking the study medicine S-606001 as an add-on to your existing enzyme replacement therapy (ERT)
  • • Details of how the medicine is given, the dose, and how long treatment lasts: Not stated — ask the trial team

Time commitment: Not stated — ask the trial team (the data does not say how many visits are needed or how long the study lasts).

Plain-English summary (AI-generated) from registry data. Not eligibility advice — only the trial team can confirm whether you can take part. Use the eligibility checker to see how your health profile matches this trial.

Type of study
Testing a treatment
Ages
18 Years and over
Who
All
Number of participants
45
Started
2025-10-30
Last checked
2026-06

Plain English Summary

What is this study?

  • • Testing a new treatment for pompe disease
  • • Phase2 - 45 participants
  • • 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

Who can take part?

  • • Ages 18 Years and over
  • • Diagnosed with pompe disease

Where?

  • • Birmingham - Queen Elizabeth Hospital Birmingham
  • • London - National Hospital for Neurology & Neurosurgery
  • • London - Royal Free London NHS Foundation Trust
  • • Newcastle upon Tyne - Royal Victoria Infirmary
  • • +1 more UK sites

This is a simplified summary. Always discuss with your doctor before making any decisions.

About This Trial

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.

Pompe Disease

How this trial compares with your answers

Answer 2 more questions to improve match

What we know so far

Condition· Matched your search
Age· Tell us your age for better matching
Gender· Tell us your sex for better matching

Still need:

  • • Tell us your age for better matching
  • • Tell us your sex for better matching

Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.

Eligibility at a Glance

Key info

  • Age: 18 Years and over
  • Who can join: All genders

Treatment history

Treatments you must have had:

  • ✓ a diagnosis of LOPD based on documentation of 1 of the following:

What the study is looking for

  • ✓Participant must be ≥18 years of age and ≥40 kilograms (kg) of body weight at the time of signing the agreement to take part.
  • ✓Participant must have a diagnosis of LOPD based on documentation of 1 of the following:
  • ✓Deficiency of acid alpha-glucosidase (GAA) enzyme
  • ✓GAA genotype
  • ✓Participant performs the 6MWT at screening, as determined by the clinical evaluator, and meets all of the following...

Who cannot take part

  • ✗Has active infections at screening.
  • ✗cancer within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have...
  • ✗Current or chronic history of liver disease.
  • ✗Known biallelic loss of function mutations whether in glycogenin gene (GYG) or in glycogen phosphorylase muscle...
  • ✗Has received gene therapy or small interfering ribonucleic acid (RNA) therapy for Pompe disease.
See the full criteria
Key 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. Key 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.

Where Is This Study? (5 UK sites)

Queen Elizabeth Hospital Birmingham

Birmingham, United Kingdom

Recruiting
Hospital R&D contact (matched)

Sarah Pountain Head of Research Governance

R&D@uhb.nhs.uk0121 371 4185

National Hospital for Neurology & Neurosurgery

London, United Kingdom

Recruiting

Royal Free London NHS Foundation Trust

London, United Kingdom

Recruiting
Hospital R&D contact (matched)

Natasha Ajraam

rf-tr.randd@nhs.net020 375 82150

Royal Victoria Infirmary

Newcastle upon Tyne, United Kingdom

Recruiting
Hospital R&D contact (matched)

Colleen Bowthorpe

colleen.bowthorpe@nhs.scot01387 241815

Salford Royal Hospital

Salford, United Kingdom

Recruiting

How to Get in Touch

Shionogi Clinical Trials Administrator Clinical Support Help Line

Sponsor contact

CONTACT

800-849-9707 Shionogiclintrials-admin@shionogi.co.jp
Data sourced from ClinicalTrials.gov · Last verified: 2026-06