Late-Onset Pompe DiseaseNCT07685314
LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
An observational study of Late-Onset Pompe Disease, run by Hospitales Universitarios Virgen del Rocío at 1 site in Spain.
Trial summary
Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD may have an increased frequency of cerebrovascular and aortic vascular abnormalities, but… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Late-Onset Pompe Disease
- How many people
- 477 participants
- Where
- 1 siteSpain
- Study dates
- 1 May 2020to 16 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: The study includes two adult cohorts recruited in Spain: (1) patients with documented late-onset Pompe disease (LOPD) recruited through Spanish Neuromuscular Reference Units (CSUR), and (2) patients with ruptured or unruptured intracranial aneurysms or subarachnoid hemorrhage recruited from Interventional Neuroradiology Units. Participants are enrolled after providing informed consent and undergo clinical, imaging, and enzymatic evaluation to investigate the prevalence and spectrum of vascular abnormalities associated with late-onset Pompe disease.
Who may be able to join
- Adults aged 18 years or older.
- Written informed consent provided.
- Documented diagnosis of late-onset Pompe disease (LOPD), or patients with ruptured or unruptured intracranial aneurysm or subarachnoid hemorrhage (with or without an associated aneurysm).
- Willing and able to comply with study procedures and possessing adequate cognitive ability.
Who cannot join
- Participants unwilling or unable to comply with study procedures or lacking the cognitive ability required to participate
Trial locations and contacts
1 site in 1 country.
About this study
Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD may have an increased frequency of cerebrovascular and aortic vascular abnormalities, but available evidence is limited.
This multicenter, non-interventional study aims to determine whether pathogenic GAA mutations are associated with severe cerebrovascular or aortic vascular malformations. The study will include patients with confirmed LOPD and patients with intracranial aneurysms or subarachnoid hemorrhage. Clinical, laboratory, genetic, and imaging data will be collected to evaluate the frequency and characteristics of vascular abnormalities in LOPD and to identify previously undiagnosed cases presenting with vascular disease.
- Conditions
- Late-Onset Pompe Disease
- Keywords
- Late-Onset Pompe Disease, Glycogen Storage Disease Type II, Acid Alpha-Glucosidase Deficiency
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Late-Onset Pompe Disease | Participants with genetically confirmed late-onset Pompe disease (LOPD). Clinical, laboratory, genetic, and vascular imaging data are collected to determine the prevalence and characteristics of cerebrovascular and aortic vascular abnormalities. | |
| Intracranial Aneurysm/Subarachnoid Hemorrhage | Participants with intracranial aneurysm (ruptured or unruptured) and/or subarachnoid hemorrhage. Dried blood spot testing for acid alpha-glucosidase (GAA) activity is performed to identify previously undiagnosed late-onset Pompe disease, with confirmatory GAA gene sequencing in participants with reduced enzyme activity. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease
To determine the prevalence and characteristics of severe cerebrovascular and aortic vascular abnormalities in participants with genetically confirmed late-onset Pompe disease and to evaluate the association between pathogenic GAA mutations and vascular involvement.
Measured: Baseline (at study assessment)
Secondary outcomes (3)
Frequency of reduced GAA enzyme activity in participants with intracranial aneurysm or subarachnoid hemorrhage
To determine the frequency of reduced acid alpha-glucosidase (GAA) activity among participants with intracranial aneurysm or subarachnoid hemorrhage.
Measured: Baseline
Frequency and distribution of vascular malformations in late-onset Pompe disease
Frequency and anatomical distribution of cerebrovascular and aortic vascular malformations identified in participants with genetically confirmed late-onset Pompe disease.
Measured: Baseline
Severity of vascular lesions
To describe the type, location, and severity of cerebrovascular and aortic vascular abnormalities and their association with demographic, clinical, laboratory, and genetic characteristics.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jul 2026
- Study start1 May 2020
- Primary completion16 Apr 2025
- Study completion16 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Late-Onset Pompe DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 477 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospitales Universitarios Virgen del Rocío
- Sponsor type
- University, hospital or other
- Collaborators
- Sanofi
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07685314
- Sponsor's protocol ID
- SGZ-2017-11891
- Status last verified
- Jun 2026
- First submitted
- 29 Jun 2026
- Last updated
- 6 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Montagnese F, Granata F, Musumeci O, Rodolico C, Mondello S, Barca E, Cucinotta M, Ciranni A, Longo M, Toscano A. Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD). J Inherit Metab Dis. 2016 May;39(3):391-398. doi: 10.1007/s10545-015-9913-x. Epub 2016 Feb 1.
PubMed 26830551Garibaldi M, Sacconi S, Antonini G, Desnuelle C. Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD). J Neurol. 2017 Mar;264(3):589-590. doi: 10.1007/s00415-017-8396-0. Epub 2017 Jan 24. No abstract available.
PubMed 28120044Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, de Boer MS, Sijbrands EJ, van der Ploeg AT, van Doorn PA. Increased aortic stiffness and blood pressure in non-classic Pompe disease. J Inherit Metab Dis. 2014 May;37(3):391-7. doi: 10.1007/s10545-013-9667-2. Epub 2014 Jan 10.
PubMed 24407465El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab. 2011 Aug;103(4):362-6. doi: 10.1016/j.ymgme.2011.04.009. Epub 2011 May 5.
PubMed 21605996Hensel O, Hanisch F, Stock K, Stoevesandt D, Deschauer M, Muller T. Morphology and function of cerebral arteries in adults with pompe disease. JIMD Rep. 2015;20:27-33. doi: 10.1007/8904_2014_385. Epub 2015 Jan 23.
PubMed 25614309Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology. 2005 Jan 25;64(2):368-70. doi: 10.1212/01.WNL.0000149528.95362.20.
PubMed 15668445Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012 Aug;106(4):462-9. doi: 10.1016/j.ymgme.2012.05.007. Epub 2012 May 18.
PubMed 22664150Matsuoka Y, Hirayama M, Senda Y, Matsui T. [Two autopsy cases of adult-type acid maltase deficiency with vacuolation of cerebral arterial walls]. Rinsho Shinkeigaku. 1985 Jan;25(1):39-45. No abstract available. Japanese.
PubMed 3922655Bijvoet AG, Van Hirtum H, Vermey M, Van Leenen D, Van Der Ploeg AT, Mooi WJ, Reuser AJ. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov;189(3):416-24. doi: 10.1002/(SICI)1096-9896(199911)189:33.0.CO;2-6.
PubMed 10547605
Study at a glance
From the registry record, last updated by the sponsor on 6 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
- ClinicalTrials.gov ID
- NCT07685314
- Acronym / sponsor ID
- SGZ-2017-11891
- Conditions
- Late-Onset Pompe Disease
- Keywords
- Late-Onset Pompe Disease, Glycogen Storage Disease Type II, Acid Alpha-Glucosidase Deficiency
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 477 participants (actual)
- Lead sponsor
- Hospitales Universitarios Virgen del RocíoUniversity, hospital or other
- Collaborators
- Sanofi
- Study start
- 1 May 2020 (actual)
- Primary completion
- 16 Apr 2025 (actual)
- Study completion
- 16 Apr 2025 (actual)
- First posted
- 6 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD may have an increased frequency of cerebrovascular and aortic vascular abnormalities, but available evidence is limited.
This multicenter, non-interventional study aims to determine whether pathogenic GAA mutations are associated with severe cerebrovascular or aortic vascular malformations. The study will include patients with confirmed LOPD and patients with intracranial aneurysms or subarachnoid hemorrhage. Clinical, laboratory, genetic, and imaging data will be collected to evaluate the frequency and characteristics of vascular abnormalities in LOPD and to identify previously undiagnosed cases presenting with vascular disease.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Late-Onset Pompe Disease | – | –Participants with genetically confirmed late-onset Pompe disease (LOPD). Clinical, laboratory, genetic, and vascular imaging data are collected to determine the prevalence and characteristics of cerebrovascular and aortic vascular abnormalities. |
| Intracranial Aneurysm/Subarachnoid Hemorrhage | – | –Participants with intracranial aneurysm (ruptured or unruptured) and/or subarachnoid hemorrhage. Dried blood spot testing for acid alpha-glucosidase (GAA) activity is performed to identify previously undiagnosed late-onset Pompe disease, with confirmatory GAA gene sequencing in participants with reduced enzyme activity. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- The study includes two adult cohorts recruited in Spain: (1) patients with documented late-onset Pompe disease (LOPD) recruited through Spanish Neuromuscular Reference Units (CSUR), and (2) patients with ruptured or unruptured intracranial aneurysms or subarachnoid hemorrhage recruited from Interventional Neuroradiology Units. Participants are enrolled after providing informed consent and undergo clinical, imaging, and enzymatic evaluation to investigate the prevalence and spectrum of vascular abnormalities associated with late-onset Pompe disease.
Key inclusion criteria (4 listed)
- Adults aged 18 years or older.
- Written informed consent provided.
- Documented diagnosis of late-onset Pompe disease (LOPD), or patients with ruptured or unruptured intracranial aneurysm or subarachnoid hemorrhage (with or without an associated aneurysm).
- Willing and able to comply with study procedures and possessing adequate cognitive ability.
Key exclusion criteria (1 listed)
- Participants unwilling or unable to comply with study procedures or lacking the cognitive ability required to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease
Time frame: Baseline (at study assessment)
To determine the prevalence and characteristics of severe cerebrovascular and aortic vascular abnormalities in participants with genetically confirmed late-onset Pompe disease and to evaluate the association between pathogenic GAA mutations and vascular involvement.
3 secondary outcomes
Frequency of reduced GAA enzyme activity in participants with intracranial aneurysm or subarachnoid hemorrhage
Time frame: Baseline
Frequency and distribution of vascular malformations in late-onset Pompe disease
Time frame: Baseline
Severity of vascular lesions
Time frame: Baseline
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jul 2026.
- Background: PubMed 26830551Montagnese F, Granata F, Musumeci O, Rodolico C, Mondello S, Barca E, Cucinotta M, Ciranni A, Longo M, Toscano A. Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD). J Inherit Metab Dis. 2016 May;39(3):391-398. doi: 10.1007/s10545-015-9913-x. Epub 2016 Feb 1.
- Background: PubMed 28120044Garibaldi M, Sacconi S, Antonini G, Desnuelle C. Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD). J Neurol. 2017 Mar;264(3):589-590. doi: 10.1007/s00415-017-8396-0. Epub 2017 Jan 24. No abstract available.
- Background: PubMed 24407465Wens SC, Kuperus E, Mattace-Raso FU, Kruijshaar ME, Brusse E, van Montfort KC, de Boer MS, Sijbrands EJ, van der Ploeg AT, van Doorn PA. Increased aortic stiffness and blood pressure in non-classic Pompe disease. J Inherit Metab Dis. 2014 May;37(3):391-7. doi: 10.1007/s10545-013-9667-2. Epub 2014 Jan 10.
- Background: PubMed 21605996El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS. Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered. Mol Genet Metab. 2011 Aug;103(4):362-6. doi: 10.1016/j.ymgme.2011.04.009. Epub 2011 May 5.
- Background: PubMed 25614309Hensel O, Hanisch F, Stock K, Stoevesandt D, Deschauer M, Muller T. Morphology and function of cerebral arteries in adults with pompe disease. JIMD Rep. 2015;20:27-33. doi: 10.1007/8904_2014_385. Epub 2015 Jan 23.
- Background: PubMed 15668445Anneser JM, Pongratz DE, Podskarbi T, Shin YS, Schoser BG. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology. 2005 Jan 25;64(2):368-70. doi: 10.1212/01.WNL.0000149528.95362.20.
- Background: PubMed 22664150Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature. Mol Genet Metab. 2012 Aug;106(4):462-9. doi: 10.1016/j.ymgme.2012.05.007. Epub 2012 May 18.
- Background: PubMed 3922655Matsuoka Y, Hirayama M, Senda Y, Matsui T. [Two autopsy cases of adult-type acid maltase deficiency with vacuolation of cerebral arterial walls]. Rinsho Shinkeigaku. 1985 Jan;25(1):39-45. No abstract available. Japanese.
- Background: PubMed 10547605Bijvoet AG, Van Hirtum H, Vermey M, Van Leenen D, Van Der Ploeg AT, Mooi WJ, Reuser AJ. Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. J Pathol. 1999 Nov;189(3):416-24. doi: 10.1002/(SICI)1096-9896(199911)189:33.0.CO;2-6.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Late-Onset Pompe Disease, run by Hospitales Universitarios Virgen del Rocío at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 6 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease (time frame: Baseline (at study assessment)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07685314, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jul 2026.