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Alpha-Mannosidosis-Physical Performance and Longitudinal assessment of Functional Capacity

Alpha-Mannosidosis-Physical Performance and Longitudinal assessment of Functional Capacity - AMPLIFY

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
DRKS
Registry ID
DRKS00028905
Enrollment
12
Registered
2022-04-28
Start date
2023-09-01
Completion date
Unknown
Last updated
2025-04-07

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

Conditions

E77.1

Interventions

Group 1: Observationalstudy Gaining clinical routine data for blood samples, x-rays, functional assessment and medical history.

Sponsors

Klinische StudieneinheitOrthopädische Klinik, Universität Würzburg
Lead Sponsor

Eligibility

Sex/Gender
All
Age
6 Years to 90 Years

Inclusion criteria

Inclusion criteria: 1. Established diagnosis of alpha mannosidosis as defined by either >> documented enzyme deficiency of lysosomal alpha- mannosidase in blood >> genetic mutation of the MAN2B1 gene 2. Written informed consent

Exclusion criteria

Exclusion criteria: Suspected or confirmed diagnosis of another lysosomal disease or skeletal dysplasia

Design outcomes

Primary

MeasureTime frame
Medical History - exploratory data—

Secondary

MeasureTime frame
Functional assessment—

Countries

Germany

Contacts

Public ContactLothar Seefried

Klinische StudieneinheitOrthopädische Klinik, Universität Würzburg

l-seefried.klh@uni-wuerzburg.de+49 931 803 3575

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026