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 have implemented the following outline work plan:
Set out the objectives of the Clinical Practice Guidelines for GSD 5 & 7.
Initiated and recruited an international team to develop them.
Provided leadership and administration to the authoring team.
Selected and secured an appropriate journal to publish the Guidelines.
Sought funding support to enable the Guidelines to be made Open Access.
Achieved publication in the selected journal.
Promoted the Guidelines and distributed 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. We subsequently produced a booklet containing the Guidelines and the Supplementary Material. These booklets have been widely circulated. A free PDF may be downloaded from our website.
See the page on the Medical menu.
CONTINUUM OF CARE
Expanding on the Clinical Practice Guidelines, IamGSD led a team of five leading clinicians to produce a Continuum of Care model which was published in Neuromuscular Disorders in June 2023. This assists medical practitioners and patients to follow a program of five learning points to arrive at the patient’s optimal state. See the page on Managing muscle GSDs.
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.