|Sponsor / Funder||Ultragenyx|
|CI||Professor Hanns Lochmüller|
HIBM is a severe progressive myopathy. It typically starts in early adulthood as muscle weakness in the legs and progresses, ultimately leading to a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer.
There is a need to:
- better understand the specific features of HIBM to improve awareness
- help early diagnosis
- identify patients
- expand knowledge of the clinical presentation, progression and variation of the disease
- identify and validate biomarkers and other outcome measures
- inform on the design and interpretation of clinical trials of new drugs
- and eventually to optimize patient management
Up to 10 centres in:
- North America
- European Union
- and Middle East
HIBM Disease Registry is a database where patients can self-report
their condition. Registry patients will not necessarily be associated with a
Those registry patients who are in the same country as a study site may choose to have their data confirmed by one of those centres or opt-in to the HIBM Natural History Study.
To better understand HIBM.
HIBM Disease Registry's specific objectives:
- Identify HIBM patients worldwide
- Promote awareness and help diagnosis of HIBM disease in the neuromuscular field
- Obtain an assessment of the medical history, clinical presentation and progression of disease in HIBM patients
- Provide a connection for patients to the broader HIBM community and associated programs
- Provide customized information to patients and their physicians that desire information on their disease status and progression.
HIBM Natural History Study's specific objectives:
- Characterize HIBM disease presentation and progression over time using relevant clinical assessments
- Obtain information using patient-reported outcomes (quality of life and timing of life changing events)