Full list of priority titles for the
Cochrane Cystic Fibrosis & Genetic Disorders Group
Please click on the links below to go to the different areas of our scope.
Coagulopathy reviews
Cystic fibrosis reviews
Haemoglobinopathy reviews
Inborn errors of metabolism reviews
Coagulopathy reviews
Management of coagulation inhibitors for congenital deficiencies
Replacement coagulation inhibitors for congenital deficiencies
Surgery for chronic haemarthropathy in people with haemophilia
Non-pharmacological interventions for treating heavy menstrual bleeding (menorrhagia) in
women with bleeding disorders
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Cystic fibrosis reviews
Complications in cystic fibrosis
 Lung transplant for cystic fibrosis
 Medical and surgical interventions for chronic rhinosinusitis in cystic fibrosis
 Surgical interventions for nasal polyps in cystic fibrosis
 Treatment for urinary incontinence in cystic fibrosis
Correcting the basic defect in cystic fibrosis/Gene therapy
 ?
Correcting the basic defect in cystic fibrosis/Mucus clearance
 Chloride secretagogues for cystic fibrosis lung disease
Gastrointestinal & nutrition
 High strength pancreatic enzyme supplements versus other enzyme formulations for cystic
fibrosis
 Interventions for the prevention of distal intestinal obstruction in cystic fibrosis
 Interventions for the treatment of distal intestinal obstruction in cystic fibrosis
 Pancreatic enzymes for asymptomatic people with cystic fibrosis
 Thiol derivatives for gastro-intestinal obstruction in cystic fibrosis
Oxygen & ventilatory support
 Endotracheal intubation for cystic fibrosis
Physiotherapy & exercise
 Physical therapies for postural abnormalities in people with cystic fibrosis
Pulmonary infection
 Antibiotic therapy for chronic infection with Burkholderia cepacia complex in people with
cystic fibrosis
 Renal-sparing antibiotic strategies for cystic fibrosis
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Haemoglobinopathy reviews
Sickle Cell Disease
Anticoagulants for deep vein thrombosis in people with sickle cell disease
Complementary and alternative therapies for treating sickle cell disease
Management of opioid addiction in sickle cell disease
Screening for central nervous system damage in sickle cell disease
Screening for retinopathy in sickle cell disease
Surgery for retinopathy in sickle cell disease
Treatment for auditory impairment in sickle cell disease
Treatment for cardiomyopathy in sickle cell disease
Treatment for hepato-billiary complications in sickle cell disease
Treatment for neuropathic pain in people with sickle cell disease
Interventions for neuro-cognitive impairment in sickle cell disease
Thalassaemias
Management of fertility and pregnancy for people with thalassaemia major
Treatment for endocrine abnormalities in people with thalassaemia major
Management of diabetes mellitus in people with beta-thalassemia major and intermedia
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Inborn errors of metabolism reviews
Amino acid disorders
Low lysine diet for glutaric aciduria type I
Newborn screening for glutaric aciduria type 1
Protein restriction for glutaric aciduria type I
Carbamyl glutamate for neonatal hyperammonaemia caused by propionic or methylmalonic
acidaemia
Liver and/or renal transplant for methylmalonic acidaemia
Liver transplant for propionic acidaemia
Taurine for succinic semialdehyde dehydrogenase (SSADH) deficiency
Vigabatrin for succinic semialdehyde dehydrogenase (SSADH) deficiency
Newborn screening for tyrosinaemia type 1
Glycogen storage diseases
Granulocyte colony stimulating factor for glycogen storage disease type 1b (glucose-6phoshpate transferase deficiency)
Lysosomal storage diseases
High protein diet for Pompe's disease
Physiotherapy for Pompe's disease
Docosahexanoic acid (DHA) for Zellweger spectrum disorder
Others
Dietary interventions for galactosemia
Galactose-restricted diet for galactosemia
Strict exclusion of galactose for classical galactosemia
Haemo and peritoneal dialysis for managing hyperammonaemia
Newborn screening for maple syrup urine disease (MSUD)
Newborn screening for medium chain acyl coA dehydrogenase (MCAD) deficiency
Large neutral amino acid supplementation for phenylketonuria
Protein therapy for phenylketonuria
Simvastatin for Smith-Lemli-Opitz syndrome
Lorenzo's oil for X-linked adrenoleukodystrophy
Statins for X-linked adrenoleukodystrophy
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