S-606001 for Late-onset Pompe disease

Inclusion criteria

• {"criterion_text":"- 1. Participant must be ≥ 18 years and ≤ 65 years of age and ≥ 40 kg of body weight at the time of signing the informed consent.\n- 2. Participant must have a diagnosis of LOPD based on documentation of 1 of the following: a. Deficiency of acid alpha-glucosidase (GAA) enzyme b. GAA genotype; previous results of GAA genotyping will be acceptable for eligibility assessment.\n- 3. Participant has a %Forced Vital Capacity (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.\n- 4. Participant performs the 6-minute walk test (6MWT) at screening, as determined by the clinical evaluator, and meets all of the following criteria: a. Screening values of 6-minute walk distance (6MWD) are ≥ 75 meters b. Screening values of 6MWD are ≤ 90% of the predicted value for healthy adults.\n- 5. a. Male participants: Male participants are eligible to participate if they agree to the following during the intervention period and for at least 14 weeks after the last dose of investigational intervention: Refrain from donating fresh unwashed semen PLUS either: Be abstinent from heterosexual intercourse as their preferred and usual lifestyle (abstinent on a long-term and persistent basis) and agree to remain abstinent OR Must agree to use contraception/barrier as detailed in the protocol. b. Female participants: A female participant is eligible to participate if she is not pregnant or breastfeeding, and 1 of the following conditions applies: Is not a woman of childbearing potential (WOCBP) as defined in the protocol OR is a WOCBP and using a contraceptive method that is highly effective preferably with low user dependency, as described in the protocol during the intervention period and for at least 184 days after the last dose of investigational intervention, and agrees not to donate eggs (ova, oocytes) for the purpose of reproduction during this period. The investigator should evaluate the potential for contraceptive method failure (eg, noncompliance, recently initiated) in relationship to the first dose of investigational intervention.\n- 6. Capable of giving signed informed consent prior to any study-related procedures being performed that includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol.\n- 7. Participants must be ERT-experienced."}

Exclusion criteria

• {"criterion_text":"- 1. Has a medical condition or any other extenuating circumstance that may, in the opinion of the investigator or medical monitor, pose an undue safety risk to the participant or may compromise his/her ability to comply with or adversely impact protocol requirements.\n- 10. Has bleeding disorders or clinically significant abnormal values in prothrombin or activated partial thromboplastin time (in the investigator's opinion).\n- 11. Has chronic obstructive pulmonary disease or any other chronic pulmonary disorders including active or latent lung tuberculosis.\n- 12. Has any known significant cardiac malfunction, including a history of additional risk factors for Torsades de Pointes (e.g., heart failure, hypokalemia, family history of Long QT Syndrome) and the use of concomitant medications that prolong the QT/QTc interval.\n- 13. 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.\n- 14. Has received gene therapy or small interfering RNA therapy for Pompe disease.\n- 15. Is taking any of the prohibited medications listed in the study protocol.\n- 16. Is currently enrolled in any other clinical study involving an investigational study or any other type of medical research.\n- 17. Is currently enrolled or past participation in another investigational study in which an investigational intervention (eg, drug, vaccine, invasive device) was administered within 30 days before the planned first dose of investigational intervention in this clinical study.\n- 18. Positive HIV antibody test.\n- 19. Presence of hepatitis B surface antigen or hepatitis B virus core antibody at screening or within 3 months prior to the first dose of investigational intervention.\n- 2. Requires the use of invasive or noninvasive ventilation support while awake.\n- 20. Positive hepatitis C virus antibody test result at screening or within 3 months prior to the first dose of investigational intervention. NOTE: Participants with positive hepatitis C antibody due to prior resolved disease can be enrolled only if a confirmatory negative hepatitis C virus RNA test is obtained.\n- 21. Participant, if female, is pregnant or breastfeeding at screening.\n- 22. Participant, whether male or female, is planning to conceive a child during the study.\n- 3. Has active infections at screening, including but not limited to viral hepatitis, HIV infection, or pulmonary tuberculosis. If the infection is acute and resolved before day 1, the participant may be enrolled.\n- 4. 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.\n- 5. Total bilirubin > 1.5 × upper limit of normal (ULN; participants with Gilbert’s syndrome can be included with total bilirubin > 1.5 × ULN if direct bilirubin is ≤ 1.5 × ULN).\n- 6. Current or chronic history of liver disease, including, but not limited to: hepatitis virus infections; drug- or alcohol-related liver disease; non-alcoholic steatohepatitis; autoimmune hepatitis; hemochromatosis; Wilson’s disease; α-1 antitrypsin deficiency; primary biliary cholangitis; primary sclerosing cholangitis; or any other liver disease considered clinically significant by the investigator (eg, higher abnormal alanine aminotransferase [ALT] value with relatively lower aspartate aminotransferase [AST] value, or abnormal gamma-glutamyl transaminase value).\n- 7. Known biallelic loss of function mutations whether in GYG gene or in PYGM gene.\n- 8. QT interval corrected for heart rate according to Fridericia’s formula (QTcF) > 450 msec for male participants, QTcF > 470 msec for female participants, or QTcF > 480 msec in participants with bundle branch block. NOTE: The QTcF is either machine-read or manually over-read.\n- 9. Has poorly controlled glycemia (ie, HbA1c > 7%)."}

Primary endpoints

• {"endpoint_text":"- Change from baseline in %FVC at 52 weeks.","definition_or_measurement_approach":"Change from baseline in %FVC at 52 weeks."}

Secondary endpoints

• {"endpoint_text":"- 1. Assessment of adverse events and treatment-emergent adverse events. Physical examinations and vital sign measurements. Clinical laboratory evaluations including biochemistry, hematology, and urinalysis. Electrocardiograms.","definition_or_measurement_approach":"Assessment of adverse events and treatment-emergent adverse events; physical examinations; vital signs; clinical laboratory evaluations (biochemistry, hematology, urinalysis); ECGs."}
• {"endpoint_text":"- 2. Plasma concentration of S-606001.","definition_or_measurement_approach":"Measurement of plasma concentration of S-606001."}
• {"endpoint_text":"- 3. Change from baseline in the parameters stated in the protocol.","definition_or_measurement_approach":"Change from baseline in protocol-specified parameters (as defined in protocol)."}
• {"endpoint_text":"- 4. Change from baseline in 6-minute walk test.","definition_or_measurement_approach":"Change from baseline in 6-minute walk distance (6MWD) as measured by the 6-minute walk test (6MWT)."}
• {"endpoint_text":"- 5. Change from baseline in pulmonary function parameters: maximal inspiratory pressure, maximal expiratory pressure. Change from baseline in motor function parameters: Gait, Stair, Gower’s Maneuver, Chair (GSGC) score, Daily Living Activity Levels. Change from baseline in the following parameters: PROMIS-Fatigue-8a, PROMIS-PF20, PROMIS-Dyspnea, PROMIS v2.0 PAIN, SF-36, PGI-S.","definition_or_measurement_approach":"Change from baseline in specified pulmonary function (maximal inspiratory/expiratory pressure), motor function (GSGC components), daily living activity levels, and listed patient-reported outcome instruments (PROMIS scales, SF-36, PGI-S)."}

Methods

• Country-specific recruitment arrangements documents (K1_Recruitment arrangements_... for BE, DK, DE, IT, NL, FR, ES) indicating localized recruitment planning.
• Website recruitment materials (K2_Recruitment material_Website_English/Dutch/French and country-specific website documents).
• Participant letters (K2_Recruitment material_Participant Letter_... in multiple languages) distributed to potential participants.
• Infographics (K2_Recruitment material_Infographic_... in multiple languages) for patient-facing recruitment.

Belgium

Earliest CTIS Part Ii Submission Date

11-11-2025

Latest Decision Or Authorization Date

03-12-2025

Processing Time Days

22

Number Of Sites

1

Number Of Participants

2

Denmark

Earliest CTIS Part Ii Submission Date

18-11-2025

Latest Decision Or Authorization Date

01-12-2025

Processing Time Days

13

Number Of Sites

1

Number Of Participants

2

Germany

Earliest CTIS Part Ii Submission Date

10-11-2025

Latest Decision Or Authorization Date

01-12-2025

Processing Time Days

21

Number Of Sites

3

Number Of Participants

4

Italy

Earliest CTIS Part Ii Submission Date

07-11-2025

Latest Decision Or Authorization Date

02-12-2025

Processing Time Days

25

Number Of Sites

2

Number Of Participants

2

Netherlands

Earliest CTIS Part Ii Submission Date

19-02-2026

Latest Decision Or Authorization Date

26-02-2026

Processing Time Days

7

Number Of Sites

1

Number Of Participants

2

France

Earliest CTIS Part Ii Submission Date

27-10-2025

Latest Decision Or Authorization Date

19-12-2025

Processing Time Days

53

Number Of Sites

4

Number Of Participants

6

Spain

Earliest CTIS Part Ii Submission Date

06-10-2025

Latest Decision Or Authorization Date

30-01-2026

Processing Time Days

116

Number Of Sites

2

Number Of Participants

3

Primary sponsor

Full Name

Shionogi B.V.

Organisation Type

Pharmaceutical company

Country Of Registered Address

Netherlands

Contract research organisations

Name

Parexel International Corp.

Responsibilities

Investigator Meeting Planning

Name

Medpace Finland Oy

Name

Rho Inc.

Name

eResearchTechnology GmbH

Responsibilities

Pulmonary Function Testing

Name

Veeva Systems Inc.

Responsibilities

Trial Master File

Name

Iqvia Inc.

Responsibilities

SF-36 Survey

Name

4g Clinical LLC

Third parties

• {"country":"United States","full_name":"Parexel International Corp.","duties_or_roles":"Investigator Meeting Planning","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Medidata Solutions Inc.","duties_or_roles":"","organisation_type":"Non-Pharmaceutical company"}
• {"country":"United States","full_name":"Rho Inc.","duties_or_roles":"","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Veeva Systems Inc.","duties_or_roles":"Trial Master File","organisation_type":"Non-Pharmaceutical company"}
• {"country":"United Kingdom","full_name":"ATOM International Limited","duties_or_roles":"Training/Certification of 6MWT","organisation_type":"Non-Pharmaceutical company"}
• {"country":"Finland","full_name":"Medpace Finland Oy","duties_or_roles":"","organisation_type":"Pharmaceutical company"}
• {"country":"Japan","full_name":"SNBL Co. Ltd","duties_or_roles":"","organisation_type":"Industry"}
• {"country":"Germany","full_name":"eResearchTechnology GmbH","duties_or_roles":"Pulmonary Function Testing","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"4g Clinical LLC","duties_or_roles":"","organisation_type":"Non-Pharmaceutical company"}
• {"country":"France","full_name":"Sysnav","duties_or_roles":"","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Jumo Health USA Inc.","duties_or_roles":"Patient material development","organisation_type":"Hospital/Clinic/Other health care facility"}
• {"country":"United States","full_name":"Duke University","duties_or_roles":"","organisation_type":"Educational Institution"}
• {"country":"United States","full_name":"Kcas LLC","duties_or_roles":"","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Iqvia Inc.","duties_or_roles":"SF-36 Survey","organisation_type":"Pharmaceutical company"}