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
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
What is being tested: This is a natural history study tracking disease progression in Friedreich ataxia patients over…
PHASE1, PHASE2A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Gene therapy trial testing safety and effectiveness of DB-OTO for hearing loss caused by otoferlin gene mutations in…
PHASE4Real-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country Study
What is being tested: Pegcetacoplan (a complement C3 inhibitor) effectiveness and safety in real-world clinical practice for patients…
PHASE1, PHASE2A Clinical Trial of PR001 (LY3884961) in Patients With Peripheral Manifestations of Gaucher Disease (PROCEED)
LY3884961 (PR001) safety and tolerability study in adults with peripheral Gaucher disease across multiple dose levels over five…
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
Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study
What is being tested: This is a natural history study tracking disease progression in Friedreich ataxia patients over…
TrialA Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations
Gene therapy trial testing safety and effectiveness of DB-OTO for hearing loss caused by otoferlin gene mutations in…
TrialReal-World Effectiveness and Safety of Pegcetacoplan in Patients With C3G or IC-MPG: A Multi-Country Study
What is being tested: Pegcetacoplan (a complement C3 inhibitor) effectiveness and safety in real-world clinical practice for patients…
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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