Cochrane Cystic Fibrosis and Genetic Disorders Group

Our 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 two '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 below.

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Full list:

Active cycle of breathing technique for cystic fibrosis (protocol stage)

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

Updated

Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis

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

Updated

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

Antibiotics for treating osteomyelitis in people with sickle cell disease

Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis

Antioxidant micronutrients for lung disease in cystic fibrosis (protocol stage)

Appetite stimulants for people with cystic fibrosis (title stage)

Assisted ventilation for managing acute chest syndrome in people with sickle cell disease (title stage)

Bisphosphonate therapy for osteogenesis imperfecta

Updated

Bisphosphonates for osteoporosis in people with cystic fibrosis

Updated

Blood transfusion for preventing stroke in people with sickle cell disease

Blood transfusions for treating acute chest syndrome in people with sickle cell disease (protocol stage)

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 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

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

Deferasirox for managing iron overload in people with thalassaemia (protocol stage)

Deferasirox for managing transfusional iron overload in people with sickle cell disease (protocol stage)

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

Dietary advice for illness-related malnutrition in adults

Dietary interventions for phenylketonuria

Dietary treatment for familial hypercholesterolaemia

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

Dornase alfa for 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

New

Embolisation therapy for pulmonary arteriovenous malformations (protocol stage)

Enteral tube feeding for cystic fibrosis

Enzyme replacement therapy for Anderson-Fabry disease (protocol stage)

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

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

Gene therapy for sickle cell disease (protocol stage)

Hematopoietic stem cell transplantation for Gaucher disease

Hematopoietic stem cell transplantation for children with sickle cell disease

Home intravenous antibiotics for cystic fibrosis

Hydroxyurea for sickle cell disease

Inhaled anti-pseudomonal antibiotics for cystic fibrosis

Inhaled antibiotics for pulmonary exacerbations in cystic fibrosis (title stage)

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

Inhaled bronchodilators for cystic fibrosis

Inhaled corticosteroids for cystic fibrosis

Inhaled mannitol for cystic fibrosis (title stage)

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

Inspiratory muscle training for cystic fibrosis

Insulin and oral agents for managing cystic fibrosis-related diabetes

Interventions for treating leg ulcers in people with sickle cell disease (title stage)

Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease (protocol stage)

Macrolide antibiotics for cystic fibrosis

Macrolide antibiotics for cystic fibrosis (IPD Protocol) (title stage)

Nebulised hypertonic saline for cystic fibrosis

Nebuliser devices for drug delivery in cystic fibrosis (protocol stage)

Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis

Neonatal screening for sickle cell disease

New

Neuraminidase inhibitors for the treatment of influenza infection in people with cystic fibrosis (protocol stage)

Newborn screening for cystic fibrosis

Newborn screening for homocystinuria (title stage)

New

Non-antibiotic therapies for pulmonary infection in cystic fibrosis (protocol stage)

Non-invasive ventilation for cystic fibrosis

Omega-3 fatty acids (from fish oils) 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 cystic fibrosis

Oscillating devices for airway clearance in people with cystic fibrosis

Oxygen therapy for cystic fibrosis

Palivizumab for prophylaxis against respiratory syncytial virus infection in children with cystic fibrosis (protocol stage)

Pancreatic enzyme replacement therapy for people with cystic fibrosis (title stage)

Percutaneous lines for delivering intravenous antibiotics in people with cystic fibrosis (title stage)

Physical training for 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 sickle cell disease

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

Prenatal screening for haemoglobinopathies (title stage)

Preoperative blood transfusions for sickle cell disease

Proanthocyanidin supplements for the treatment of chronic disorders (title stage)

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 people with cystic fibrosis and their families

Psychological therapies for sickle cell disease and pain

Psychological therapies for thalassaemia

Recombinant Factor VIIa concentrate versus plasma derived concentrates for the treatment of acute bleeding episodes in people with Haemophilia and inhibitors

Updated

Recombinant growth hormone therapy for X-linked hypophosphatemia in children

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

New

Sapropterin dihydrochloride for phenylketonuria (protocol stage)

Self-management education for cystic fibrosis (protocol stage)

New

Singing for children and adults with cystic fibrosis (protocol stage)

Single versus combination intravenous antibiotic therapy for people with cystic fibrosis

Sodium channel blockers for cystic fibrosis

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

Statins for children with familial hypercholesterolemia (protocol stage)

Stem cell transplantation for people with ß thalassaemia major (title stage)

Surgical interventions for treating pectus excavatum (title stage)

Timing of dornase alfa inhalation for cystic fibrosis (protocol stage)

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 (title stage)

Totally implantable vascular access devices for cystic fibrosis

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

Treatments for priapism in boys and men with sickle cell disease

Tyrosine supplementation for phenylketonuria

Ursodeoxycholic acid for cystic fibrosis-related liver disease

Updated

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

Updated

Vaccines for preventing influenza in people with cystic fibrosis

New

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

Vitamin A supplementation for cystic fibrosis

New

Vitamin D supplementation for cystic fibrosis

Vitamin K supplementation for cystic fibrosis (title stage)

By subtopic:

Cystic Fibrosis and Genetic Disorders Group (99)

CYSTIC FIBROSIS (55)

DIAGNOSIS (1)

SCREENING (1)

Antenatal (0)

Neonatal (1)

Newborn screening for cystic fibrosis

TREATMENT (54)

AEROSOL DELIVERY (1)

Nebuliser devices for drug delivery in cystic fibrosis (protocol stage)

ANTI-VIRAL AGENTS (1)

Neuraminidase inhibitors for the treatment of influenza infection in people with cystic fibrosis (protocol stage)

ANTIBIOTIC - PREVENTION (3)

Oral (2)

Macrolide antibiotics for cystic fibrosis

Prophylactic anti-staphylococcal antibiotics for cystic fibrosis

Nebulised (1)

Inhaled anti-pseudomonal antibiotics for cystic fibrosis

ANTIBIOTIC - THERAPY (9)

Oral (1)

Staphylococcous aureus (0)

Haemophilius influenzae (0)

Pseudomonas aeruginosa (1)

Oral anti-pseudomonal antibiotics for cystic fibrosis

Intravenous (5)

Devices to deliver therapy (1)

Totally implantable vascular access devices for cystic fibrosis

Haemophilius influenzae (0)

Pseudomonas aeruginosa (4)

Duration of intravenous antibiotic therapy in 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

Single versus combination intravenous antibiotic therapy for people with cystic fibrosis

Staphylococcous aureus (0)

Organisation of treatment (2)

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

Home intravenous antibiotics for cystic fibrosis

Treatment to eradicate organisms (1)

Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis

ANTIFUNGAL (1)

Antifungal therapies for allergic bronchopulmonary aspergillosis in people with cystic fibrosis

ANTI-INFLAMMATORY (3)

Non-steroidal (1)

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

Steroid-inhaled (1)

Inhaled corticosteroids for cystic fibrosis

Steroid-oral (1)

Oral steroids for cystic fibrosis

BRONCHODILATOR (1)

Inhaled (1)

Inhaled bronchodilators for cystic fibrosis

Oral (0)

CARDIAC (0)

ENVIRONMENTAL STRATEGIES (0)

GASTROINTESTINAL (1)

Drug therapies for reducing gastric acidity in people with cystic fibrosis

GENE THERAPY (1)

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

LIVER DISEASE (1)

Ursodeoxycholic acid for cystic fibrosis-related liver disease

MUCOLYTIC AGENTS (5)

DNase (2)

Dornase alfa for cystic fibrosis

Timing of dornase alfa inhalation for cystic fibrosis (protocol stage)

Saline / hypertonic / isotonic (1)

Nebulised hypertonic saline for cystic fibrosis

Sodium channel blockers (1)

Sodium channel blockers for cystic fibrosis

Thiol derivatives (1)

Nebulized and oral thiol derivatives for pulmonary disease in cystic fibrosis

NON-ANTIBIOTIC DRUG THERAPIES (1)

Non-antibiotic therapies for pulmonary infection in cystic fibrosis (protocol stage)

NUTRITION (6)

Appetite Stimulants (0)

Enteral Feeding (1)

Enteral tube feeding for cystic fibrosis

Supplements (2)

Omega-3 fatty acids (from fish oils) for cystic fibrosis

Oral calorie supplements for cystic fibrosis

Parenteral (0)

Vitamins (3)

Antioxidant micronutrients for lung disease in cystic fibrosis (protocol stage)

Vitamin A supplementation for cystic fibrosis

Vitamin D supplementation for cystic fibrosis

OXYGEN AND VENTILATORY SUPPORT (2)

Non-invasive ventilation (1)

Non-invasive ventilation for cystic fibrosis

Oxygen therapy (1)

Oxygen therapy for cystic fibrosis

PANCREATIC ENZYMES (0)

Tablets / microspheres (0)

PHYSIOTHERAPY AND EXERCISE (8)

Active cycle of breathing technique for cystic fibrosis (protocol stage)

Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis

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

Inspiratory muscle training for cystic fibrosis

Oscillating devices for airway clearance in people with cystic fibrosis

Physical training for cystic fibrosis

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

Singing for children and adults with cystic fibrosis (protocol stage)

PSYCHOLOGICAL (2)

Psychological interventions for people with cystic fibrosis and their families

Self-management education for cystic fibrosis (protocol stage)

THORACIC SURGERY (1)

Lung transplant (0)

Pneumothorax (1)

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

VACCINE (3)

Palivizumab for prophylaxis against respiratory syncytial virus infection in children with cystic fibrosis (protocol stage)

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

Vaccines for preventing influenza in people with cystic fibrosis

SYSTEMS OUTSIDE LUNG AND GASTROINTESTINAL TRACT (4)

Arthritis (2)

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

Diabetes Mellitus (1)

Insulin and oral agents for managing cystic fibrosis-related diabetes

Infertility (0)

Osteoporosis (1)

Bisphosphonates for osteoporosis in people with cystic fibrosis

COAGULOPATHIES (2)

HAEMOPHILIA (2)

DIAGNOSIS (0)

TREATMENT (2)

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

Recombinant Factor VIIa concentrate versus plasma derived concentrates for the treatment of acute bleeding episodes in people with Haemophilia and inhibitors

HAEMOGLOBINOPATHIES (28)

SICKLE CELL DISEASE (24)

DIAGNOSIS (1)

SCREENING (1)

Antenatal (0)

Neonatal (1)

Neonatal screening for sickle cell disease

TREATMENT (23)

ANTIBIOTIC-PREVENTION (1)

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

ANTIBIOTICS -TREATMENT (3)

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

BLOOD TRANSFUSIONS (4)

Blood transfusion for preventing stroke in people with sickle cell disease

Blood transfusions for treating acute chest syndrome in people with sickle cell disease (protocol stage)

Deferasirox for managing transfusional iron overload in people with sickle cell disease (protocol stage)

Preoperative blood transfusions for sickle cell disease

BONE DISEASE (1)

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

GENE THERAPY (1)

Gene therapy for sickle cell disease (protocol stage)

INHALED THERAPIES (2)

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

CELL DEHYDRATION (3)

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

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

Piracetam for reducing the incidence of painful sickle cell disease crises

HYDROXYUREA (1)

Hydroxyurea for sickle cell disease

PHYTOMEDICINES (1)

Phytomedicines (medicines derived from plants) for sickle cell disease

PRIAPISM (1)

Treatments for priapism in boys and men with sickle cell disease

PSYCHOLOGICAL THERAPIES (1)

Psychological therapies for sickle cell disease and pain

SPLENECTOMY (1)

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

STEM CELL THERAPY (1)

Hematopoietic stem cell transplantation for children with sickle cell disease

VACCINE (2)

Pneumococcal vaccines for sickle cell disease

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

THALASSAEMIA (4)

DIAGNOSIS (0)

TREATMENT (4)

PSYCHOLOGICAL THERAPIES (1)

Psychological therapies for thalassaemia

IRON CHELATION (3)

Deferasirox for managing iron overload in people with thalassaemia (protocol stage)

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

Oral deferiprone for iron chelation in people with thalassaemia

INBORN ERRORS OF METABOLISM (11)

HUNTER SYNDROME (0)

DIAGNOSIS (0)

TREATMENT (0)

Enzyme replacement therapy (0)

PHENYLKETONURIA (4)

DIAGNOSIS (0)

TREATMENT (4)

NUTRITION (4)

Dietary Treatment (4)

Dietary interventions for phenylketonuria

Protein substitute for children and adults with phenylketonuria

Sapropterin dihydrochloride for phenylketonuria (protocol stage)

Tyrosine supplementation for phenylketonuria

FAMILIAL HYPERCHOLESTEROLAEMIA (2)

DIAGNOSIS (0)

TREATMENT (2)

DRUGS (1)

Statins for children with familial hypercholesterolemia (protocol stage)

NUTRITION (1)

Dietary Treatment (1)

Dietary treatment for familial hypercholesterolaemia

GAUCHER DISEASE (1)

TREATMENT (1)

Enzyme replacement therapy (0)

Hematopoietic stem cell therapy (1)

Hematopoietic stem cell transplantation for Gaucher disease

SUPPLEMENTS (2)

Carnitine supplementation for inborn errors of metabolism

Enzyme replacement therapy for Anderson-Fabry disease (protocol stage)

X-LINKED HYPOPHOSPHATEMIA (1)

Recombinant growth hormone therapy for X-linked hypophosphatemia in children

OSTEOGENESIS IMPERFECTA (1)

Bisphosphonate therapy for osteogenesis imperfecta

New + Updated:

Updated

Antibiotic strategies for eradicating Pseudomonas aeruginosa in people with cystic fibrosis

Updated

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

Updated

Bisphosphonates for osteoporosis in people with cystic fibrosis

Updated

Blood transfusion for preventing stroke in people with sickle cell disease

New

Embolisation therapy for pulmonary arteriovenous malformations (protocol stage)

New

Neuraminidase inhibitors for the treatment of influenza infection in people with cystic fibrosis (protocol stage)

New

Non-antibiotic therapies for pulmonary infection in cystic fibrosis (protocol stage)

Updated

Recombinant growth hormone therapy for X-linked hypophosphatemia in children

New

Sapropterin dihydrochloride for phenylketonuria (protocol stage)

New

Singing for children and adults with cystic fibrosis (protocol stage)

Updated

Vaccines for preventing infection with Pseudomonas aeruginosa in cystic fibrosis

Updated

Vaccines for preventing influenza in people with cystic fibrosis

New

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

New

Vitamin D supplementation for cystic fibrosis

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