A Multi-Center, Low Interventional Study with a Retrospective Component in Participants with Late Onset Pompe Disease

A Multi-Center, Low Interventional Study with a Retrospective Component in Participants with Late Onset Pompe Disease - SPK-GAA-100

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON48104

Enrollment

Registered

2020-01-07

Start date

2020-03-05

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Lysosomal storage disorder and neuromuscular disease acid maltase deficiency (AMD) glycogen storage disorder Pompe Disease

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: 1. Provide written IC and authorization to use protected health information (PHI) in accordance with national and local privacy regulation; 2. Male or females >=18 years of age; 3. Currently on ERT using regular recombinant human GAA infusions for at least 18 months prior to screening; 4. Documented history of clinically moderate late-onset Pompe disease. For example: a. Able to walk 150 meters on the 6-minute walk test (assistive devices permitted) b. Percentage of the predicted FVC >= 30% and

Exclusion criteria

Exclusion criteria: 1. History of HIV 2. Requires any invasive ventilation (other than BiPAP at night) or noninvasive ventilation while awake and upright; 3. Previously received SPK-GAA 4. Previously dosed with any investigational or approved gene therapy product at any time or treated with an investigational drug within the last 12 weeks (vaccination studies are accepted) 5. Any concurrent clinically significant condition that would not allow the potential participant to complete the Day 1 examinations, or other condition that, in the opinion of the Investigator and/or Sponsor, makes the subject unsuitable for participation in the study 6. Unable or unwilling to comply with the schedule of visits and/or study assessments described in the clinical protocol

Design outcomes

Primary

Measure	Time frame
• Occurrence and titer of SPK-GAA antibodies	—

Secondary

Measure	Time frame
• Anti-GAA binding antibodies • Neutralizing antibodies to circulating GAA • GAA activity • GAA antigen level Exploratory Endpoints: • Current and retrospective laboratory evaluations: liver function tests, Creatine Kinase (CK), albumin, infectious hepatitis serologies, bicarbonate, Factor VII, Prothrombin time (PT), Partial Thromboplastin time (PTT), Thyroid Stimulating Hormone (TSH), additional biomarkers of liver and muscle stress, exploratory biomarker of lysosomal health Beta hexosaminidase (βHexo) • Day 1 and historic (as available) FibroScan • Current and retrospective chart review of ERT use • Retrospective chart review (as available): o Functional tests: 6-minute Walk Test (6MWT), Forced Vital Capacity (FVC), other muscle function and pulmonary function tests o MRI o Muscle biopsy o Liver FibroScan o Liver Ultrasound	—

Measure

Time frame

• Anti-GAA binding antibodies • Neutralizing antibodies to circulating GAA • GAA activity • GAA antigen level Exploratory Endpoints: • Current and retrospective laboratory evaluations: liver function tests, Creatine Kinase (CK), albumin, infectious hepatitis serologies, bicarbonate, Factor VII, Prothrombin time (PT), Partial Thromboplastin time (PTT), Thyroid Stimulating Hormone (TSH), additional biomarkers of liver and muscle stress, exploratory biomarker of lysosomal health Beta hexosaminidase (βHexo) • Day 1 and historic (as available) FibroScan • Current and retrospective chart review of ERT use • Retrospective chart review (as available): o Functional tests: 6-minute Walk Test (6MWT), Forced Vital Capacity (FVC), other muscle function and pulmonary function tests o MRI o Muscle biopsy o Liver FibroScan o Liver Ultrasound

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Countries

Netherlands

Outcome results