Clinical guidelines are developed to provide a set of standards for clinical teams regarding diagnosis, assessment, monitoring and treatment. They also aim to offer reassurance to people living with the conditions that they will receive the same care regardless of location and specialist teams.
Why clinical guidelines matter
Consistency across centres: Clinical guidelines ensure the same high standard of care regardless of location or specialist team.
Confidence for patients and families: Provides reassurance that care is guided by nationally agreed protocols.
Clarity in a complex space: Especially important in rare and complex diseases where care can vary.
Doctor-led flexibility: Guidelines support but do not replace individualised decisions by your medical team.
The role of the PPPN
The Patient Professional Partnership Network (PPPN) is a small, expert working group which was formalised in November 2023 with representatives from:
LSD Patient organisations
Clinicians and specialist nurses
NHS England (NHSE)
Diagnostic services
British Inherited Metabolic Disease Group (BIMDG)
Their key priority is to develop and approve national clinical guidelines.
Progress so far
So far, ten national guidelines have been developed and approved by the PPPN, including:
MPS I, II, III, IVA, VI
LAL D (Wolman)
Fabry
Alpha Mannosidosis
These guidelines were developed and reviewed by multidisciplinary teams of clinicians, nurses and other relevant personnel. Each guideline was then reviewed and signed off by the PPPN.
Currently in development are guidelines for Gaucher and Metachromatic Leukodystrophy (MLD).
Learn more
At MPS Matters 2025 Sophie Thomas from the MPS Society and James Davison, consultant in paediatric metabolic medicine at Great Ormond Street Hospital in London, shared more details about the importance of clinical guidelines.
