Overview
Sponsor-declared trial summary
Pompe Disease
The objective of this trial it to characterize how muscle glycogen is affected by enzyme replacement therapy in treatment naïve patients with Pompe Disease.
Key facts
- Sponsor
- Rigshospitalet
- Participant type
- Patients
- Age range
- 18-64 years, 65+ years
- Gender
- Male and Female
- Therapeutic area
- Diseases [C] - Nutritional and Metabolic Diseases [C18], Diseases [C] - Musculoskeletal Diseases [C05], Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Trial duration
- 13 Feb 2024 → ongoing
- Decision date (initial)
- 2024-01-16
- Transition trial
- No
- Low-intervention
- No
- Rare-disease indication
- Yes
- Vulnerable population
- No
- Funding sources
- Sanofi
Trial design
CTIS Part I — objectives, methods, condition coding
Main objective
Scope: Pharmacodynamic
The objective of this trial it to characterize how muscle glycogen is affected by enzyme replacement therapy in treatment naïve patients with Pompe Disease.
Conditions and MedDRA coding
Pompe Disease
| Version | Level | Code | Term | System organ class |
|---|---|---|---|---|
| 20.0 | LLT | 10075703 | Pompe's disease adult onset | 10010331 |
Regulatory references
- Plan to share IPD
- Yes
- IPD plan description
- Study only evaluates 3 individuals. Individual data will be published in peer reviewed journal.
| EU CT number | Title | Sponsor |
|---|---|---|
| 2023-508000-37-00 | GLYCOGEN RESPONSE TO ENZYME REPLACEMENT THERAPY IN POMPE DISEASE | Rigshospitalet |
Eligibility criteria
Principal inclusion / exclusion criteria as submitted by sponsor
Inclusion criteria 3
- Subjects with genetically verified Late-onset Pompe Disease
- Age ≥18
- Naïve to enzyme replacement therapy
Exclusion criteria 7
- Ferrous objects in or around the body
- Pacemaker or other implanted electronic devices
- Claustrophobia
- Inability to understand the purpose of the trial or corporate for the conduction of the experiments
- Participation in other trials that may interfere with the results
- Competing conditions at risk of compromising the results of the study, evaluated by the investigator
- Pregnancy
Endpoints
Primary and secondary outcome measures (English text)
Primary endpoints 1
- Change in glycogen concentration of the hamstring muscles between baseline and 12-month follow-up
Secondary endpoints 5
- Change in glycogen concentration of the calf, hamstring, anterior thigh, and lumbar muscles over time – both within the first treatment cycle, and at 3, 6 and 12-months follow-up
- Change in fat-fraction of the calf, hamstring, anterior thigh, and lumbar muscles from baseline to 3, 6 and 12-months follow-up.
- Correlations between baseline glycogen levels and change in FVC between baseline and 12-months follow-up.
- Correlations between baseline glycogen levels and change in 6MWT between baseline and 12-months follow-up.
- Correlations between baseline glycogen levels and change in fat-fraction of the calf, hamstring, anterior thigh, and lumbar muscles from baseline to 12-months follow-up.
Investigational products
Investigational medicinal products (IMPs), comparators, placebo, auxiliary
Test 1
Nexviadyme 100 mg powder for concentrate for solution for infusion
PRD9787959 · Product
- Active substance
- Avalglucosidase Alfa
- Pharmaceutical form
- SOLUTION FOR INFUSION
- Route of administration
- INFUSION
- Max daily dose
- 1.5 mg/Kg milligram(s)/kilogram
- Max total dose
- 520 mg/Kg milligram(s)/kilogram
- Max treatment duration
- 12 Month(s)
- Authorisation status
- Authorised
- ATC code
- NOTASSIGN — -
- Marketing authorisation
- EU/1/21/1579/001
- MA holder
- SANOFI B.V.
- MA country
- Liechtenstein
- Paediatric formulation
- No
- Orphan designation
- No
- Modified vs. Marketing Authorisation
- No
Sponsors and contacts
Sponsor organisations, regulatory contacts, third parties
Rigshospitalet
- Sponsor organisation
- Rigshospitalet
- Address
- Blegdamsvej 9
- City
- Copenhagen Oe
- Postcode
- 2100
- Country
- Denmark
Scientific contact point
- Organisation
- Rigshospitalet
- Contact name
- Mads Stemmerik
Public contact point
- Organisation
- Rigshospitalet
- Contact name
- Mads Stemmerik
Third parties 1
| Organisation | City, country | Duties |
|---|---|---|
| Frederiksberg Hospital ORG-100028217
|
Frederiksberg, Denmark | On site monitoring |
Locations
1 EU/EEA country · 1 investigational sites
By country
| Country | MS status | Planned subjects | Sites |
|---|---|---|---|
| Denmark | Ongoing, recruiting | 10 | 1 |
| Rest of world | — | 0 | — |
Investigational sites
Country notifications
Trial-start, recruitment-start, end and early-termination notifications submitted per Member State
| Country | Trial start | Trial end | Recruitment start | Recruitment end | Early termination |
|---|---|---|---|---|---|
| Denmark | 2024-02-13 | 2024-02-13 |
Results and documents
Annex IV summary of results, Annex V layperson summary, and all documents registered in CTIS for this trial
Documents 8 files
Public protocol annexes, IB summaries, regulatory submissions and post-authorisation documents registered in CTIS.
| Type | Title | Version |
|---|---|---|
| Protocol (for publication) | Protokol 7T Pompe | 2 |
| Protocol (for publication) | Protokol 7T Pompe_TC | 2 |
| Recruitment arrangements (for publication) | Recruitment | 1 |
| Subject information and informed consent form (for publication) | Participant information | 4 |
| Subject information and informed consent form (for publication) | Participant information_TC | 1 |
| Summary of Product Characteristics (SmPC) (for publication) | Blank | 1 |
| Synopsis of the protocol (for publication) | Synopsis 7T Pompe | 2 |
| Synopsis of the protocol (for publication) | Synopsis 7T Pompe_TC | 2 |
Application history
2 submissions — initial application plus substantial / non-substantial modifications
| # | Type | Code | Submitted | Reference MS | Conclusion | Decision date |
|---|---|---|---|---|---|---|
| 1 | INITIAL | IN | 2023-11-14 | Denmark | Acceptable 2024-01-11
|
2024-01-16 |
| 2 | SUBSTANTIAL MODIFICATION | SM-1 | 2025-06-16 | Denmark | Acceptable 2025-08-22
|
2025-08-22 |