Published protocols and reviews

Our scope covers a number of genetic disorders which we have split into four main topic areas: cystic fibrosis; haemoglobinopathies; coagulopathies; and inborn errors of metabolism. These areas are then subdivided into diagnosis reviews and treatment reviews. The treatment reviews are then split further according to area of treatment. Additionally, we have published four 'orphan' reviews which do not strictly speaking fall within our scope, but for which we have taken on responsibility. The full list of registered titles, protocols and reviews is available here.

Our Reviews

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Full list:

Active cycle of breathing technique for cystic fibrosis

Airway clearance techniques for cystic fibrosis: an overview of Cochrane systematic reviews

Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease

Anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis

Anti-inflammatory drugs and analgesics for managing symptoms in people with cystic fibrosis-related arthritis

Antibiotic adjuvant therapy for pulmonary infection in cystic fibrosis

Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis

Antibiotic therapy for chronic infection with Burkholderia cepacia complex in people with cystic fibrosis

Antibiotic treatment for complex in people with cystic fibrosis experiencing a pulmonary exacerbation

Antibiotic treatment for in people with cystic fibrosis

Antibiotic treatment for nontuberculous mycobacteria lung infection in people with cystic fibrosis

Antibiotics for treating acute chest syndrome in people with sickle cell disease

Antibiotics for treating community-acquired pneumonia in people with sickle cell disease

Antibiotics for treating osteomyelitis in people with sickle cell disease

Antifibrinolytic therapy for preventing oral bleeding in patients with haemophilia or Von Willebrand disease undergoing minor oral surgery or dental extractions

Antifibrinolytic therapy for preventing oral bleeding in people on anticoagulants undergoing minor oral surgery or dental extractions

Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis

Antioxidant supplementation for lung disease in cystic fibrosis

Antioxidant supplementation for sickle cell disease

Appetite stimulants for people with cystic fibrosis

Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis

Autogenic drainage for airway clearance in cystic fibrosis

Bile acid sequestrants for primary prevention of ischaemic heart disease in heterozygous familial hypercholesterolaemia

Biomarkers for diagnosis of Wilson's disease

Bisphosphonate therapy for osteogenesis imperfecta

Bisphosphonates for osteoporosis in people with cystic fibrosis

Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease

Updated

Blood transfusions for treating acute chest syndrome in people with sickle cell disease

Bronchoscopy-guided antimicrobial therapy for cystic fibrosis

Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors

Calcium channel blockers for preventing cardiomyopathy due to iron overload in people with transfusion-dependent beta thalassaemia

Carnitine supplementation for inborn errors of metabolism

Chemical pleurodesis versus surgical intervention for persistent and recurrent pneumothoraces in cystic fibrosis

Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis

Clotting factor concentrates for preventing bleeding and bleeding-related complications in previously treated individuals with haemophilia A or B

Clotting factor concentrates given to prevent bleeding and bleeding-related complications in people with hemophilia A or B

Combination antimicrobial susceptibility testing for acute exacerbations in chronic infection of Pseudomonas aeruginosa in cystic fibrosis

Combined large neutral amino acid supplementation for phenylketonuria (PKU)

Computer and mobile technology interventions to promote medication adherence and disease management in people with sickle cell disease

Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia

Conjugate type b vaccines for sickle cell disease

Continuous glucose monitoring systems for monitoring cystic fibrosis-related diabetes

Continuous glucose monitoring systems for the diagnosis of cystic fibrosis-related diabetes

Conventional chest physiotherapy compared to other airway clearance techniques for cystic fibrosis

Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis

Deferasirox for managing iron overload in people with thalassaemia

Deferasirox for managing transfusional iron overload in people with sickle cell disease

Desferrioxamine mesylate for managing transfusional iron overload in people with transfusion-dependent thalassaemia

Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders

Desmopressin acetate (DDAVP) for preventing and treating bleeding in people with mild or moderate haemophilia A

Dietary advice with or without oral nutritional supplements for disease-related malnutrition in adults

Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy protein and dietary fibers) for familial hypercholesterolaemia

Dietary interventions for managing glucose abnormalities in people with cystic fibrosis

Dietary interventions for phenylketonuria

Digital technology for exercise prescription and physical activity monitoring in people with cystic fibrosis

Digital technology for monitoring adherence to inhaled therapies in people with cystic fibrosis

Digital technology for predicting and intervening early in exacerbations in people with cystic fibrosis

Disease modifying anti-rheumatic drugs in people with cystic fibrosis-related arthritis

Dornase alfa for cystic fibrosis

New

Dosing regimens for pancreatic enzyme replacement therapy (PERT) in cystic fibrosis

Drug therapies for reducing gastric acidity in people with cystic fibrosis

Drugs for preventing red blood cell dehydration in people with sickle cell disease

Duration of intravenous antibiotic therapy in people with cystic fibrosis

Elective versus symptomatic intravenous antibiotic therapy for cystic fibrosis

Embolisation for pulmonary arteriovenous malformation

Enteral tube feeding for cystic fibrosis

Enzyme replacement and substrate reduction therapy for Gaucher disease

Enzyme replacement therapy for Anderson-Fabry disease

Enzyme replacement therapy for infantile-onset Pompe disease

Enzyme replacement therapy for late-onset Pompe disease

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome)

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I

Eradication therapy for complex in people with cystic fibrosis

Exercise for haemophilia

Exercise versus airway clearance techniques for people with cystic fibrosis

Fluid replacement therapy for acute episodes of pain in people with sickle cell disease

Foetal haemoglobin inducers for reducing blood transfusion in non-transfusion dependent beta thalassaemias

Folate supplementation in people with sickle cell disease

Gene therapy for haemophilia

Gene therapy for sickle cell disease

Glucocorticoid replacement regimens in the treatment of 21-hydroxylase deficiency congenital adrenal hyperplasia

Growth hormone therapy for people with thalassaemia

Hematopoietic stem cell transplantation for Gaucher disease

Hematopoietic stem cell transplantation for people with sickle cell disease

Hematopoietic stem cell transplantation for people with ß-thalassaemia major

Home versus hospital intravenous antibiotic therapy for cystic fibrosis

Hydroxyurea (hydroxycarbamide) for sickle cell disease

Hydroxyurea (hydroxycarbamide) for transfusion-dependent β-thalassaemia

Hydroxyurea for reducing blood transfusion in non-transfusion dependent beta thalassaemias

Immune tolerance induction for treating inhibitors in people with congenital haemophilia A or B

Immunosuppressive drug therapy for preventing rejection following lung transplantation in cystic fibrosis

Inhaled anti-pseudomonal antibiotics for long-term therapy in cystic fibrosis

Inhaled antibiotics for pulmonary exacerbations in cystic fibrosis

Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease

Inhaled corticosteroids for cystic fibrosis

Inhaled mannitol for cystic fibrosis

Inhaled muco-active agents for cystic fibrosis: an overview of Cochrane systematic reviews

Inhaled nitric oxide for acute chest syndrome in people with sickle cell disease

Inhaled nitric oxide for treating pain crises in people with sickle cell disease

Insulin and oral agents for managing cystic fibrosis-related diabetes

Interventions for chronic kidney disease in people with sickle cell disease

Interventions for improving adherence to airway clearance treatment and exercise in people with cystic fibrosis

Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia

Interventions for patients and caregivers to improve knowledge of sickle cell disease and recognition of its related complications

Interventions for preventing and managing advanced liver disease in cystic fibrosis

Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis

Interventions for preventing silent cerebral infarcts in people with sickle cell disease

Interventions for promoting participation in shared decision-making for children and adolescents with cystic fibrosis

Interventions for promoting physical activity in people with cystic fibrosis

Interventions for reducing inflammation in familial Mediterranean fever

Interventions for the eradication of meticillin-resistant Staphylococcus aureus (MRSA) in people with cystic fibrosis

Interventions for treating acute bleeding episodes in people with acquired hemophilia A

Interventions for treating distal intestinal obstruction syndrome (DIOS) in cystic fibrosis

Interventions for treating intrahepatic cholestasis in people with sickle cell disease

Interventions for treating leg ulcers in people with sickle cell disease

Interventions for treating neuropathic pain in people with sickle cell disease

Interventions for treating pulmonary hypertension in people with sickle cell disease or thalassaemia

Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease

Intravenous antibiotics for pulmonary exacerbations in people with cystic fibrosis

Laser therapy for retinopathy in sickle cell disease

Long-acting inhaled bronchodilators for cystic fibrosis

Low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease

Macrolide antibiotics for cystic fibrosis

Magnesium for treating sickle cell disease

Maternal and foetal outcomes following natural vaginal versus caesarean section (c-section) delivery in women with bleeding disorders and carriers

Medical interventions for chronic rhinosinusitis in cystic fibrosis

Nebulised hypertonic saline for cystic fibrosis

Nebuliser systems for drug delivery in cystic fibrosis

Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis

Neonatal screening for sickle cell disease

Neuraminidase inhibitors for the treatment of influenza infection in people with cystic fibrosis

Newborn screening for cystic fibrosis

Newborn screening for galactosaemia

Newborn screening for homocystinuria

Non-factor replacement therapy for preventing bleeding in people with hemophilia

Non-invasive ventilation for airway clearance in cystic fibrosis

Non-invasive ventilation for cystic fibrosis

Non-invasive ventilation for respiratory support in cystic fibrosis

Non-surgical interventions for treating heavy menstrual bleeding (menorrhagia) in women with bleeding disorders

Omega-3 fatty acids for cystic fibrosis

Once-daily versus multiple-daily dosing with intravenous aminoglycosides for cystic fibrosis

Oral anti-pseudomonal antibiotics for cystic fibrosis

Oral calorie supplements for cystic fibrosis

Oral deferiprone for iron chelation in people with thalassaemia

Oral non-steroidal anti-inflammatory drug therapy for lung disease in cystic fibrosis

Oral protein calorie supplementation for children with chronic disease

Oral steroids for long-term use in cystic fibrosis

Oscillating devices for airway clearance in people with cystic fibrosis

Oxygen therapy for cystic fibrosis

Oxytocin for Prader-Willi Syndrome

PCSK9 inhibition for primary prevention of ischaemic heart disease in heterozygous familial hypercholesterolaemia

Palivizumab for prophylaxis against respiratory syncytial virus infection in children with cystic fibrosis

Palliative drug treatments for breathlessness in cystic fibrosis

Pancreatic enzyme replacement therapy for people with cystic fibrosis

Percutaneous lines for delivering intravenous antibiotics in people with cystic fibrosis

Physical exercise training for cystic fibrosis

Physical therapies for postural abnormalities in people with cystic fibrosis

Phytomedicines (medicines derived from plants) for sickle cell disease

Piracetam for reducing the incidence of painful sickle cell disease crises

Pneumococcal vaccines for cystic fibrosis

Pneumococcal vaccines for sickle cell disease

Point-of-care diagnostic tests for sickle cell disease

Positive expiratory pressure physiotherapy for airway clearance in people with cystic fibrosis

Potentiators (specific therapies for class III and IV mutations) for cystic fibrosis

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease

Preoperative blood transfusions for sickle cell disease

Prevention of dental complications in sickle cell disease

Prevention of dental complications in thalassaemia

New

Probiotics for people with cystic fibrosis

Prophylactic anti-staphylococcal antibiotics for cystic fibrosis

Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease

Protein substitute for children and adults with phenylketonuria

Psychological interventions for improving adherence to inhaled therapies in people with cystic fibrosis

Psychological interventions for individuals with cystic fibrosis and their families

Psychological interventions for people with hemophilia

Psychological therapies for sickle cell disease and pain

Psychological therapies for thalassaemia

Pycnogenol® (extract of French maritime pine bark) for the treatment of chronic disorders

Rapamycin and rapalogs for tuberous sclerosis complex

Recombinant factor VIIa concentrate versus plasma-derived concentrates for treating acute bleeding episodes in people with haemophilia and inhibitors

Recombinant growth hormone therapy for X-linked hypophosphatemia in children

Recombinant growth hormone therapy for cystic fibrosis in children and young adults

Red blood cell transfusion to treat or prevent complications in sickle cell disease: an overview of Cochrane reviews

Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease

Respiratory muscle training for cystic fibrosis

Rituximab for eradicating inhibitors in people with acquired haemophilia A

Rituximab for treating inhibitors in people with inherited severe hemophilia

Sapropterin dihydrochloride for phenylketonuria

Self-management education for cystic fibrosis

Short-acting inhaled bronchodilators for cystic fibrosis

Singing as an adjunct therapy for children and adults with cystic fibrosis

Single versus combination intravenous anti-pseudomonal antibiotic therapy for people with cystic fibrosis

Sodium channel blockers for cystic fibrosis

Splenectomy for people with thalassaemia major or intermedia

Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease

Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis

Standard versus biofilm antimicrobial susceptibility testing to guide antibiotic therapy in cystic fibrosis

New

Statins for Smith-Lemli-Opitz syndrome

Statins for children with familial hypercholesterolemia

Strategies for identifying familial hypercholesterolaemia in non-specialist clinical settings

Strategies to prevent kidney injury from antibiotics in people with cystic fibrosis

Surgery for chronic arthropathy in people with haemophilia

Surgical interventions for treating pectus excavatum

Timing of dornase alfa inhalation for cystic fibrosis

Timing of hypertonic saline inhalation for cystic fibrosis

Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease

Topical nasal steroids for treating nasal polyposis in people with cystic fibrosis

Totally implantable vascular access devices for cystic fibrosis

Transcutaneous electrical nerve stimulation (TENS) for pain management in sickle cell disease

Updated

Treatment for avascular necrosis of bone in people with sickle cell disease

Treatment for chronic methicillin-sensitive pulmonary infection in people with cystic fibrosis

Treatment for osteoporosis in people with ß-thalassaemia

Treatment for preventing bleeding in people with haemophilia or other congenital bleeding disorders undergoing surgery

Treatment of dental and orthodontic complications in thalassaemia

Updated

Treatment of dental complications in sickle cell disease

New

Treatments for preventing recurrence of infection with in people with cystic fibrosis

Treatments for priapism in boys and men with sickle cell disease

Tyrosine supplementation for phenylketonuria

Ursodeoxycholic acid for cystic fibrosis-related liver disease

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

Vaccines for preventing influenza in people with cystic fibrosis

Vaccines for preventing invasive salmonella infections in people with sickle cell disease

Vitamin A and beta (β)-carotene supplementation for cystic fibrosis

Vitamin B supplementation for sickle cell disease

Vitamin D supplementation for cystic fibrosis

Vitamin D supplementation for sickle cell disease

Vitamin E supplementation in people with cystic fibrosis

Vitamin K supplementation for cystic fibrosis

Zinc supplements for treating thalassaemia and sickle cell disease

By subtopic:

CYSTIC FIBROSIS (104)

CF-RELATED DIABETES (1)

Continuous glucose monitoring systems for the diagnosis of cystic fibrosis-related diabetes (protocol stage)

Newborn screening for cystic fibrosis

TREATMENT (102)

ANTI-INFLAMMATORY & BRONCHODILATOR THERAPY (4)

ANTI-INFLAMMATORY THERAPY (3)

NON-STEROIDAL (1)

Oral non-steroidal anti-inflammatory drug therapy for lung disease in cystic fibrosis

Inhaled corticosteroids for cystic fibrosis

Oral steroids for long-term use in cystic fibrosis

BRONCHODILATOR THERAPY (1)

Long-acting inhaled bronchodilators for cystic fibrosis

COMPLICATIONS OF CYSTIC FIBROSIS (11)

Anti-inflammatory drugs and analgesics for managing symptoms in people with cystic fibrosis-related arthritis

Disease modifying anti-rheumatic drugs in people with cystic fibrosis-related arthritis

CF-RELATED BONE DISEASE (1)

Bisphosphonates for osteoporosis in people with cystic fibrosis

CF-RELATED DIABETES (1)

Insulin and oral agents for managing cystic fibrosis-related diabetes

Palliative drug treatments for breathlessness in cystic fibrosis

LIVER DISEASE (2)

Interventions for preventing and managing advanced liver disease in cystic fibrosis

Ursodeoxycholic acid for cystic fibrosis-related liver disease

NASAL POLYPS (1)

Topical nasal steroids for treating nasal polyposis in people with cystic fibrosis

PNEUMOTHORAX (1)

Chemical pleurodesis versus surgical intervention for persistent and recurrent pneumothoraces in cystic fibrosis

PULMONARY HYPERTENSION (0)

RHINOSINUSITIS (1)

Medical interventions for chronic rhinosinusitis in cystic fibrosis

TRANSPLANTATION (1)

Immunosuppressive drug therapy for preventing rejection following lung transplantation in cystic fibrosis

CORRECTING THE BASIC DEFECT IN CF (11)

GENE THERAPY (4)

CORRECTION OF THE MOLECULAR DEFECT (3)

Ataluren and similar compounds (specific therapies for premature termination codon class I mutations) for cystic fibrosis

Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis

Potentiators (specific therapies for class III and IV mutations) for cystic fibrosis

REPLACEMENT OF DEFECTIVE CFTR GENE (1)

Topical cystic fibrosis transmembrane conductance regulator gene replacement for cystic fibrosis-related lung disease

DRUGS THAT IMPROVE CLEARANCE OF AIRWAY SECRETIONS (7)

INCREASE IN AIRWAY SURFACE LIQUID VOLUME (4)

Sodium channel blockers for cystic fibrosis

Nebulised hypertonic saline for cystic fibrosis

Inhaled mannitol for cystic fibrosis

Timing of hypertonic saline inhalation for cystic fibrosis

REDUCTION IN STICKINESS OF SPUTUM AND MUCUS (MUCOLYTICS) (3)

Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis

Dornase alfa for cystic fibrosis

Timing of dornase alfa inhalation for cystic fibrosis

DEVICES FOR DELIVERING DRUG THERAPY (3)

AEROSOL DELIVERY (1)

Nebuliser systems for drug delivery in cystic fibrosis

INTRAVENOUS DELIVERY (2)

Percutaneous lines for delivering intravenous antibiotics in people with cystic fibrosis

IMPLANTABLE DEVICES (1)

Totally implantable vascular access devices for cystic fibrosis

GASTROINTESTINAL & NUTRITIONAL (17)

GASTROINTESTINAL (4)

Drug therapies for reducing gastric acidity in people with cystic fibrosis

ANTI-REFLUX THERAPY (0)

GASTRO-INTESTINAL OBSTRUCTION (2)

Interventions for treating distal intestinal obstruction syndrome (DIOS) in cystic fibrosis

Interventions for preventing distal intestinal obstruction syndrome (DIOS) in cystic fibrosis

PROBIOTICS AND PREBIOTICS (1)

Probiotics for people with cystic fibrosis

NUTRITIONAL (11)

APPETITE STIMULANTS (1)

Appetite stimulants for people with cystic fibrosis

BEHAVIOURAL THERAPIES (0)

DIETARY SUPPLEMENTS (3)

Antioxidant supplementation for lung disease in cystic fibrosis

Omega-3 fatty acids for cystic fibrosis

Oral calorie supplements for cystic fibrosis

FEEDING THERAPIES (1)

Enteral tube feeding for cystic fibrosis

TREATMENT OF GROWTH FAILURE (1)

Recombinant growth hormone therapy for cystic fibrosis in children and young adults

VITAMIN SUPPLEMENTS (5)

Antioxidant supplementation for lung disease in cystic fibrosis

Vitamin A and beta (β)-carotene supplementation for cystic fibrosis

Vitamin D supplementation for cystic fibrosis

Vitamin E supplementation in people with cystic fibrosis

Vitamin K supplementation for cystic fibrosis

PANCREATIC ENZYME THERAPY (2)

Dosing regimens for pancreatic enzyme replacement therapy (PERT) in cystic fibrosis (protocol stage)

Pancreatic enzyme replacement therapy for people with cystic fibrosis

Macrolide antibiotics for cystic fibrosis

MENTAL HEALTH (6)

CREATIVE THERAPIES (1)

Psychological interventions for individuals with cystic fibrosis and their families

FAMILY/COMMUNITY-BASED SUPPORT PROGRAMS (1)

Psychological interventions for individuals with cystic fibrosis and their families

MOTIVATIONAL INTERVIEWING (1)

Psychological interventions for individuals with cystic fibrosis and their families

PATIENT EDUCATION (2)

Interventions for promoting participation in shared decision-making for children and adolescents with cystic fibrosis

Self-management education for cystic fibrosis

PHARMACOLOGICAL INTERVENTIONS (0)

PSYCHOLOGICAL COUNSELLING (1)

Psychological interventions for individuals with cystic fibrosis and their families

OXYGEN & VENTILATORY SUPPORT (2)

OXYGEN THERAPY (1)

Oxygen therapy for cystic fibrosis

VENTILATORY SUPPORT (1)

Non-invasive ventilation for cystic fibrosis

PHYSIOTHERAPY & EXERCISE (14)

Exercise versus airway clearance techniques for people with cystic fibrosis (protocol stage)

Physical therapies for postural abnormalities in people with cystic fibrosis (protocol stage)

Physical exercise training for cystic fibrosis

Interventions for promoting physical activity in people with cystic fibrosis

Singing as an adjunct therapy for children and adults with cystic fibrosis

Respiratory muscle training for cystic fibrosis

PHYSIOTHERAPY (8)

AIRWAY CLEARANCE TECHNIQUES (8)

Active cycle of breathing technique for cystic fibrosis

Conventional chest physiotherapy compared to other airway clearance techniques for cystic fibrosis

Airway clearance techniques for cystic fibrosis: an overview of Cochrane systematic reviews

Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis

Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis

Autogenic drainage for airway clearance in cystic fibrosis

Oscillating devices for airway clearance in people with cystic fibrosis

Positive expiratory pressure physiotherapy for airway clearance in people with cystic fibrosis

PULMONARY INFECTION (33)

BURKHOLDERIA CEPACIA (3)

ACUTE THERAPY (PULMONARY EXACERBATIONS) (1)

Antibiotic treatment for complex in people with cystic fibrosis experiencing a pulmonary exacerbation

CHRONIC THERAPY (1)

Antibiotic therapy for chronic infection with Burkholderia cepacia complex in people with cystic fibrosis

ERADICATION (1)

Eradication therapy for complex in people with cystic fibrosis

FUNGAL INFECTION (2)

ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS (2)

Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis

Anti-IgE therapy for allergic bronchopulmonary aspergillosis in people with cystic fibrosis

Antibiotic adjuvant therapy for pulmonary infection in cystic fibrosis

Strategies to prevent kidney injury from antibiotics in people with cystic fibrosis (protocol stage)

Intravenous antibiotics for pulmonary exacerbations in people with cystic fibrosis

Bronchoscopy-guided antimicrobial therapy for cystic fibrosis

HAEMOPHILUS INFLUENZAE (0)

NON-TUBERCULOUS MYCOBACTERIA (1)

ACUTE THERAPY (PULMONARY EXACERBATIONS) (1)

Antibiotic treatment for nontuberculous mycobacteria lung infection in people with cystic fibrosis

PSEUDOMONAS AERUGINOSA (14)

ACUTE THERAPY (PULMONARY EXACERBATIONS) (9)

Single versus combination intravenous anti-pseudomonal antibiotic therapy for people with cystic fibrosis

Elective versus symptomatic intravenous antibiotic therapy for cystic fibrosis

Once-daily versus multiple-daily dosing with intravenous aminoglycosides for cystic fibrosis

Inhaled antibiotics for pulmonary exacerbations in cystic fibrosis

Home versus hospital intravenous antibiotic therapy for cystic fibrosis

Duration of intravenous antibiotic therapy in people with cystic fibrosis

Oral anti-pseudomonal antibiotics for cystic fibrosis

Standard versus biofilm antimicrobial susceptibility testing to guide antibiotic therapy in cystic fibrosis

Combination antimicrobial susceptibility testing for acute exacerbations in chronic infection of Pseudomonas aeruginosa in cystic fibrosis

ERADICATION THERAPY (1)

Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis

MAINTENANCE THERAPY (2)

Inhaled anti-pseudomonal antibiotics for long-term therapy in cystic fibrosis

Oral anti-pseudomonal antibiotics for cystic fibrosis

PREVENTATIVE THERAPY (2)

Treatments for preventing recurrence of infection with in people with cystic fibrosis

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

STAPHYLOCOCCUS AUREUS (3)

ERADICATION THERAPY (1)

Interventions for the eradication of meticillin-resistant Staphylococcus aureus (MRSA) in people with cystic fibrosis

MAINTENANCE THERAPY (1)

Treatment for chronic methicillin-sensitive pulmonary infection in people with cystic fibrosis

PREVENTATIVE THERAPY (1)

Prophylactic anti-staphylococcal antibiotics for cystic fibrosis

STENOTROPHOMONAS MALTOPHILIA (2)

ACUTE THERAPY (PULMONARY EXACERBATIONS) (1)

Antibiotic treatment for in people with cystic fibrosis

MAINTENANCE THERAPY (1)

Antibiotic treatment for in people with cystic fibrosis

VIRAL INFECTION (4)

Neuraminidase inhibitors for the treatment of influenza infection in people with cystic fibrosis

Vaccines for preventing influenza in people with cystic fibrosis

PNEUMOCOCCAL INFECTION (1)

Pneumococcal vaccines for cystic fibrosis

RESPIRATORY SYNCYTIAL VIRUS (RSV) (1)

Palivizumab for prophylaxis against respiratory syncytial virus infection in children with cystic fibrosis

COAGULOPATHIES (17)

COAGULOPATHIES IN GENERAL (4)

Antifibrinolytic therapy for preventing oral bleeding in people on anticoagulants undergoing minor oral surgery or dental extractions

Antifibrinolytic therapy for preventing oral bleeding in patients with haemophilia or Von Willebrand disease undergoing minor oral surgery or dental extractions

Non-surgical interventions for treating heavy menstrual bleeding (menorrhagia) in women with bleeding disorders

Maternal and foetal outcomes following natural vaginal versus caesarean section (c-section) delivery in women with bleeding disorders and carriers

HAEMOPHILIA (13)

Desmopressin acetate (DDAVP) for preventing and treating acute bleeds during pregnancy in women with congenital bleeding disorders

Desmopressin acetate (DDAVP) for preventing and treating bleeding in people with mild or moderate haemophilia A (protocol stage)

Exercise for haemophilia

Gene therapy for haemophilia

Immune tolerance induction for treating inhibitors in people with congenital haemophilia A or B

Treatment for preventing bleeding in people with haemophilia or other congenital bleeding disorders undergoing surgery

Psychological interventions for people with hemophilia (protocol stage)

Recombinant factor VIIa concentrate versus plasma-derived concentrates for treating acute bleeding episodes in people with haemophilia and inhibitors

Clotting factor concentrates given to prevent bleeding and bleeding-related complications in people with hemophilia A or B

Rituximab for eradicating inhibitors in people with acquired haemophilia A

Rituximab for treating inhibitors in people with inherited severe hemophilia

Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors

Interventions for treating acute bleeding episodes in people with acquired hemophilia A

HAEMOGLOBINOPATHIES (67)

SICKLE CELL DISEASE (51)

SCREENING FOR THE DISEASE (1)

Neonatal screening for sickle cell disease

SCREENING FOR THE EFFECTS OF DISEASE (0)

ALTERNATIVE HOLISTIC THERAPIES (2)

Phytomedicines (medicines derived from plants) for sickle cell disease

Transcutaneous electrical nerve stimulation (TENS) for pain management in sickle cell disease (protocol stage)

Inhaled nitric oxide for treating pain crises in people with sickle cell disease

Low-molecular-weight heparins for managing vaso-occlusive crises in people with sickle cell disease

Piracetam for reducing the incidence of painful sickle cell disease crises

Psychological therapies for sickle cell disease and pain

Interventions for treating neuropathic pain in people with sickle cell disease

BLOOD TRANSFUSIONS (6)

Red blood cell transfusion to treat or prevent complications in sickle cell disease: an overview of Cochrane reviews

Preoperative blood transfusions for sickle cell disease

Blood transfusions for treating acute chest syndrome in people with sickle cell disease

Interventions for chronic kidney disease in people with sickle cell disease

Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease

Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease

HAEMOGLOBIN REGULATION (2)

Hydroxyurea (hydroxycarbamide) for sickle cell disease

Zinc supplements for treating thalassaemia and sickle cell disease

IRON CHELATION (2)

Deferasirox for managing transfusional iron overload in people with sickle cell disease

Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia

Interventions for preventing silent cerebral infarcts in people with sickle cell disease

RED BLOOD CELL HYDRATION (3)

Drugs for preventing red blood cell dehydration in people with sickle cell disease

Piracetam for reducing the incidence of painful sickle cell disease crises

Fluid replacement therapy for acute episodes of pain in people with sickle cell disease

Interventions for treating pulmonary hypertension in people with sickle cell disease or thalassaemia (protocol stage)

CENTRAL NERVOUS SYSTEM (0)

CURATIVE THERAPY (2)

Gene therapy for sickle cell disease

Hematopoietic stem cell transplantation for people with sickle cell disease

Treatment of dental complications in sickle cell disease

Laser therapy for retinopathy in sickle cell disease

GENITO-URINARY (1)

Treatments for priapism in boys and men with sickle cell disease

Interventions for treating intrahepatic cholestasis in people with sickle cell disease

Blood transfusion for preventing primary and secondary stroke in people with sickle cell disease

NUTRITIONAL (3)

Folate supplementation in people with sickle cell disease

Magnesium for treating sickle cell disease

Vitamin D supplementation for sickle cell disease

PSYCHO-SOCIAL THERAPIES (2)

Interventions for patients and caregivers to improve knowledge of sickle cell disease and recognition of its related complications

Psychological therapies for sickle cell disease and pain

Angiotensin-converting enzyme (ACE) inhibitors for proteinuria and microalbuminuria in people with sickle cell disease

Interventions for chronic kidney disease in people with sickle cell disease

RESPIRATORY (10)

Antibiotics for treating acute chest syndrome in people with sickle cell disease

Antibiotics for treating community-acquired pneumonia in people with sickle cell disease

Blood transfusions for treating acute chest syndrome in people with sickle cell disease

Inhaled bronchodilators for acute chest syndrome in people with sickle cell disease

Inhaled nitric oxide for acute chest syndrome in people with sickle cell disease

Regular long-term red blood cell transfusions for managing chronic chest complications in sickle cell disease

Pneumococcal vaccines for sickle cell disease

Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease

Conjugate type b vaccines for sickle cell disease

Vaccines for preventing invasive salmonella infections in people with sickle cell disease

Antibiotics for treating osteomyelitis in people with sickle cell disease

Treatment for avascular necrosis of bone in people with sickle cell disease

Interventions for treating leg ulcers in people with sickle cell disease

Splenectomy versus conservative management for acute sequestration crises in people with sickle cell disease

THALASSAEMIA (16)

BLOOD TRANSFUSIONS (2)

Hydroxyurea (hydroxycarbamide) for transfusion-dependent β-thalassaemia

Hydroxyurea for reducing blood transfusion in non-transfusion dependent beta thalassaemias

HAEMOGLOBIN REGULATION (1)

Zinc supplements for treating thalassaemia and sickle cell disease

IRON CHELATION (4)

Deferasirox for managing iron overload in people with thalassaemia

Desferrioxamine mesylate for managing transfusional iron overload in people with transfusion-dependent thalassaemia

Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia

Oral deferiprone for iron chelation in people with thalassaemia

Calcium channel blockers for preventing cardiomyopathy due to iron overload in people with transfusion-dependent beta thalassaemia

Interventions for treating pulmonary hypertension in people with sickle cell disease or thalassaemia (protocol stage)

CURATIVE THERAPY (1)

Hematopoietic stem cell transplantation for people with ß-thalassaemia major

Treatment of dental and orthodontic complications in thalassaemia

GENITO-URINARY (0)

Growth hormone therapy for people with thalassaemia

Computer and mobile technology interventions to promote medication adherence and disease management in people with thalassemia

PSYCHO-SOCIAL THERAPIES (1)

Psychological therapies for thalassaemia

PULMONARY HYPERTENSION (0)

Treatment for osteoporosis in people with ß-thalassaemia

Splenectomy for people with thalassaemia major or intermedia

INBORN ERRORS OF METABOLISM (27)

ANDERSON-FABRY DISEASE (1)

Enzyme replacement therapy for Anderson-Fabry disease

CONGENITAL ADRENAL HYPERPLASIA (1)

Glucocorticoid replacement regimens in the treatment of 21-hydroxylase deficiency congenital adrenal hyperplasia (protocol stage)

FAMILIAL HYPERCHOLESTEROLAEMIA (5)

Strategies for identifying familial hypercholesterolaemia in non-specialist clinical settings (protocol stage)

Bile acid sequestrants for primary prevention of ischaemic heart disease in heterozygous familial hypercholesterolaemia (protocol stage)

Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy protein and dietary fibers) for familial hypercholesterolaemia

PCSK9 inhibition for primary prevention of ischaemic heart disease in heterozygous familial hypercholesterolaemia (protocol stage)

Statins for children with familial hypercholesterolemia

GALACTOSAEMIA (1)

Newborn screening for galactosaemia

GAUCHER DISEASE (2)

Hematopoietic stem cell transplantation for Gaucher disease

Enzyme replacement and substrate reduction therapy for Gaucher disease

GLUTARIC ACIDURIA (0)

GLYCOGEN STORAGE DISEASE TYPE 1B (G6PD) (0)

HOMOCYSTINURIA (1)

Newborn screening for homocystinuria

HYPERAMMONAEMIA (0)

INBORN ERRORS OF METABOLISM IN GENERAL (1)

Carnitine supplementation for inborn errors of metabolism

MAPLE SYRUP URINE DISEASE (0)

MCAD DEFICIENCY (0)

MUCOPOLYSACCHARIDOSES (4)

MPS I - HURLER SYNDROME (1)

Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I

MPS II - HUNTER SYNDROME (1)

Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

MPS III - SANFILIPPO SYNDROME (0)

MPS IV - MORQUIO SYNDROME (1)

Enzyme replacement therapy for mucopolysaccharidosis type IV (Morquio syndrome) (protocol stage)

MPS VI - MAROTEAUX-LAMY SYNDROME (1)

Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI

MPS VII - SLY SYNDROME (0)

MPS IX - NATOWICZ SYNDROME (0)

OSTEOGENESIS IMPERFECTA (1)

Bisphosphonate therapy for osteogenesis imperfecta

PHENYLKETONURIA (5)

Tyrosine supplementation for phenylketonuria

Combined large neutral amino acid supplementation for phenylketonuria (PKU) (protocol stage)

Protein substitute for children and adults with phenylketonuria

Sapropterin dihydrochloride for phenylketonuria

Dietary interventions for phenylketonuria

POMPE'S DISEASE (2)

Enzyme replacement therapy for infantile-onset Pompe disease

Enzyme replacement therapy for late-onset Pompe disease (protocol stage)

SMITH-LEMLI-OPITZ SYNDROME (1)

Statins for Smith-Lemli-Opitz syndrome (protocol stage)

SSADH DEFICIENCY (0)

TYROSINAEMIA (0)

WILSON'S DISEASE (1)

Biomarkers for diagnosis of Wilson's disease

X-LINKED ADRENOLEUKODYSTROPHY (0)

X-LINKED HYPOPHOSPHATEMIA (1)

Recombinant growth hormone therapy for X-linked hypophosphatemia in children

ZELLWEGER SPECTRUM DISORDER (0)

OTHER TOPICS (9)

Dietary advice with or without oral nutritional supplements for disease-related malnutrition in adults

Interventions for reducing inflammation in familial Mediterranean fever

Rapamycin and rapalogs for tuberous sclerosis complex

Embolisation for pulmonary arteriovenous malformation

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease

Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease

Surgical interventions for treating pectus excavatum

Oral protein calorie supplementation for children with chronic disease

Pycnogenol® (extract of French maritime pine bark) for the treatment of chronic disorders

New and Updated (in the latest issue of the CLib):

New

Dosing regimens for pancreatic enzyme replacement therapy (PERT) in cystic fibrosis

New

Probiotics for people with cystic fibrosis

New

Statins for Smith-Lemli-Opitz syndrome

New

Treatments for preventing recurrence of infection with in people with cystic fibrosis

Updated

Blood transfusions for treating acute chest syndrome in people with sickle cell disease

Respiratory muscle training for cystic fibrosis

Updated

Treatment for avascular necrosis of bone in people with sickle cell disease

Updated

Treatment of dental complications in sickle cell disease