HomeRare Diseases
Rare Diseases
Court tussle over Medihelp’s refusal to cover costly meds
Medical aid scheme Medihelp has been entangled in a legal battle for more than two years with a Gauteng mother over treatment for her...
First cases of new neurology syndrome identified by US team
Long non-coding RNA has been implicated in human disease, according to findings from a team of scientists in Chicago, who have recently been able...
GPs urged to test for Fragile X in women
Doctors have been urged to test patients for a genetic condition that is the most common inherited cause of learning disability, with experts saying...
Pfizer withdraws sickle cell treatment after deaths
Pfizer is withdrawing its sickle cell disease treatment Oxbryta from all markets where it has been approved, citing risks of a painful complication and deaths.
Pfizer...
Pfizer pauses study after boy’s death in Duchenne trial
A child has died in Pfizer’s phase 2 study of its gene therapy candidate for Duchenne muscular dystrophy, the rare genetic disorder that primarily...
SA to import costly cystic fibrosis drug, but few can afford it
Although US drug manufacturer Vertex has reached an agreement with Equity Pharmaceuticals to import and distribute its cystic fibrosis treatment Trikafta in SA, the...
FDA accelerated approval for Duchenne drug questioned
The decision by the US Food and Drug Administration to grant accelerated approval for gene therapy to treat Duchenne muscular dystrophy, and which includes...
Short-lived ALS drug faces class action suit after withdrawal
The manufacturer of the world’s newest treatment approved for amyotrophic lateral sclerosis (ALS), often called Lou Gehrig’s disease, has withdrawn the drug from the...
FDA approves ‘world’s costliest drug’ for children with MLD
A new gene therapy for the fatal genetic disorder metachromatic leukodystrophy, or MLD, will carry a wholesale price of a whopping $4.25m, its manufacturer...
Two-year-old diagnosed with childhood dementia
Charlotte Colley is mostly just like any other two-year-old, going to day-care, splashing about in the pool or at the beach, and having no...