Rare Diseases
Guidelines, trial intelligence, clinical news, drug science and education for Rare Diseases.
Latest Guidelines
Nusinersen and risdiplam for treating spinal muscular atrophy
Consider nusinersen or risdiplam early in SMA diagnosis – both are recommended treatment options for eligible patients and should be initiated promptly after confirmation, as early…
Givinostat for treating Duchenne muscular dystrophy in people 6 years and over
Givinostat is recommended as an option for treating Duchenne muscular dystrophy in people aged 6 years and over – consider initiating this histone deacetylase inhibitor in…
Trial Radar
A Gaucher Disease Gene Therapy Trial With FLT201
Gene therapy FLT201 tested in Gaucher disease patients already on standard treatment, assessing whether it allows safe discontinuation…
TrialInternational Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
International registry tracking long-term outcomes and pregnancy complications in Gaucher disease patients receiving routine care.
PHASE3CAR-T Long Term Follow Up (LTFU) Study
Study tracking safety and effectiveness of CAR-T cancer therapy in patients for 15 years after treatment to detect…
PHASE3ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis
Gene therapy for inherited eye disease causing vision loss in males, testing safety and effectiveness in children and…
Clinical News
Newborn babies in England to be tested for SMA
England is introducing newborn screening for spinal muscular atrophy (SMA), a genetic neuromuscular disorder, as part of a…
16 Jul 2026Jesy Nelson calls plan to test newborns for deadly muscle condition a ‘victory’
Newborn screening for Spinal Muscular Atrophy (SMA) will be introduced across England via heel prick testing, enabling early…
15 Jul 2026Every baby in England to get life-saving genetic test from birth
England's newborn screening programme will expand to include spinal muscular atrophy (SMA), offering universal genetic testing for all…
Relevant Mechanisms
Drug science mapping in progress
Mechanism explainers will appear here as they are mapped to Rare Diseases.
CPD, Podcasts & Webinars
No specialty-tagged education live yet
Rare Diseases podcasts, webinars and CPD modules will appear here as new education is published and tagged.
Useful starting points in Rare Diseases
A Gaucher Disease Gene Therapy Trial With FLT201
Gene therapy FLT201 tested in Gaucher disease patients already on standard treatment, assessing whether it allows safe discontinuation…
TrialInternational Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry
International registry tracking long-term outcomes and pregnancy complications in Gaucher disease patients receiving routine care.
TrialCAR-T Long Term Follow Up (LTFU) Study
Study tracking safety and effectiveness of CAR-T cancer therapy in patients for 15 years after treatment to detect…
Education that still supports this area
SGLT2 Inhibitors: From Glycaemia to Heart Failure and Chronic Kidney Disease
recorded webinar focused on SGLT2 Inhibitors in diabetes and metabolic medicine. Use the recording with the slide outline…
WebinarJAK Inhibitors: Updated Safety Signals, Patient Selection and Post-ORAL Surveillance
Recorded webinar focused on JAK inhibitors in rheumatology and immune-mediated inflammatory disease. Reviews JAK-STAT signalling, patient selection, ORAL…
WebinarGLP-1 Agonists: Semaglutide, Tirzepatide and the Cardiovascular Revolution
recorded webinar focused on GLP-1 Agonists in diabetes and metabolic medicine. Use the recording with the slide outline…
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