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Showing 1 to 15 of 469 results for rare

  1. Rare diseases

    In development Reference number: GID-QS10197 Expected publication date:  27 February 2026

  2. Setmelanotide for treating obesity caused by a rare genetic disorder in children aged 2 to 5 [TSID11827]

    Topic prioritisation

  3. Skin cancer (QS130)

    This quality standard covers preventing, assessing, diagnosing and managing skin cancer (melanoma and non-melanoma skin cancer). It describes high-quality care in priority areas for improvement.

  4. Sarcoma (QS78)

    This quality standard covers providing and organising services for people with sarcoma. It includes pathways for referral and diagnosis, treatment and support for adults, young people and children with sarcoma. It describes high-quality care in priority areas for improvement.

  5. Otitis media (acute): antimicrobial prescribing (NG91)

    This guideline sets out an antimicrobial prescribing strategy for acute otitis media (ear infection). It aims to limit antibiotic use and reduce antimicrobial resistance. Acute otitis media can be caused by viruses or bacteria. It lasts for about a week, and most children get better in 3 days without antibiotics. Serious complications are rare.

  6. Givosiran for treating acute hepatic porphyria (HST16)

    Evidence-based recommendations on givosiran (Givlaari) for treating acute hepatic porphyria in adults and young people aged 12 and over.

  7. Velmanase alfa for treating alpha-mannosidosis (HST29)

    Evidence-based recommendations on velmanase alfa (Lamzede) for treating alpha-mannosidosis in people under 18 years and in people who turn 18 while on treatment.

  8. Prophylaxis against infective endocarditis: antimicrobial prophylaxis against infective endocarditis in adults and children undergoing interventional procedures (CG64)

    This guideline covers preventing infective endocarditis (IE) in children, young people and adults. It focuses on people at increased risk of infective endocarditis undergoing dental, gastrointestinal tract, genitourinary and respiratory tract procedures.

  9. Therapeutic percutaneous image-guided aspiration of spinal cysts (HTG143)

    Evidence-based recommendations on therapeutic percutaneous image-guided aspiration of spinal cord cysts. This involves using a needle to drain the cyst and remove pressure on the spinal cord or nerve roots.

  10. Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations (HST11)

    Evidence-based recommendations on voretigene neparvovec (Luxturna) for RPE65-mediated inherited retinal dystrophies in people with vision loss caused by inherited retinal dystrophy from confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells.

  11. Inotersen for treating hereditary transthyretin amyloidosis (HST9)

    Evidence-based recommendations on inotersen (Tegsedi) for stage 1 and stage 2 polyneuropathy in adults with hereditary transthyretin amyloidosis.

  12. Cerliponase alfa for treating neuronal ceroid lipofuscinosis type 2 (HST12)

    Evidence-based recommendations on cerliponase alfa (Brineura) for treating neuronal ceroid lipofuscinosis type 2 in children.

  13. Strimvelis for treating adenosine deaminase deficiency–severe combined immunodeficiency (HST7)

    Evidence-based recommendation on Strimvelis for adenosine deaminase deficiency–severe combined immunodeficiency.

  14. Volanesorsen for treating familial chylomicronaemia syndrome (HST13)

    Evidence-based recommendations on volanesorsen (Waylivra) for treating familial chylomicronaemia syndrome in adults.

  15. Metreleptin for treating lipodystrophy (HST14)

    Evidence-based recommendations on metreleptin (Myalepta) for treating lipodystrophy in children and adults.