CLINICAL PRACTICE GUIDELINES
At present, there are no internationally agreed ‘Clinical Practice Guidelines’ for muscle GSDs†. This presents a distinct challenge for both patients and clinicians. Inappropriate management can lead to poor patient outcomes and reduced quality of life.
Given that the mainstay for managing muscle GSDs is effective day-to-day self-management, it is vital to have standardization of care based on best practice.
† Now published for GSD5 and GSD7, see below.
To optimize patient care through access to systematically developed guidelines that outline diagnostic and management recommendations.
We will work towards our goal by:
Working with national GSD organizations, researchers and clinicians to inform the development of Clinical Practice Guidelines.
Communicating the patient perspective .
Providing support/information to all clinicians who care for patients with muscle GSDs.
Disseminating Clinical Practice Guidelines to clinicians.
We are implementing the following outline workplan:
Set out the objectives of the Clinical Practice Guidelines for GSD 5 & 7.
Initiate and recruit an international team to develop them.
Provide leadership and administration to the authoring team.
Select and secure an appropriate journal to publish the Guidelines.
Seek funding support to enable the Guidelines to be made Open Access.
Upon publication, promote and distribute the Guidelines to all relevant groups.
As of October 2021 this Campaign was in effect completed with acceptance of the Clinical Practice Guidelines by the Neuromuscular Disorders journal. They were published with Open Access in the December 2021 issue.
See the page on the Medical menu.
As a long term project, we would like to see similar Guidelines for the other muscle GSDs we cover. However, with the low number of cases diagnosed, it may be many years before there is sufficient evidence to support agreement of guidelines. With some GSDs, such as those with under 10 diagnosed cases worldwide, it may never be possible.