Rare Diseases

Trikafta: Is lifelong therapy always necessary for CF lung function?

Discontinuing chronic Trikafta therapy does not appear to diminish lung function in patients with cystic fibrosis, challenging assumptions about long-term adherence.

Duchenne Muscular Dystrophy: Why silent cardiac decline costs lives

Regular, proactive cardiac and respiratory monitoring is essential for Duchenne muscular dystrophy patients, directly impacting survival rates. Adherence to established guidelines for surveillance can mitigate the progression of life-limiting complications.

Duchenne gene therapy: Is micro-dystrophin enough for functional gains?

Delandistrogene moxeparvovec, an AAV micro-dystrophin gene therapy, gained US FDA approval but its clinical benefit against functional endpoints remains under scrutiny.

Pompe disease NBS: Is early diagnosis a false promise?

Newborn screening for Pompe disease identifies infants with acid alpha-glucosidase deficiency, but pseudodeficiency alleles complicate early diagnosis and treatment decisions.

Late-onset Pompe: Why respiratory distress often fools us

Late-onset Pompe disease often presents with respiratory compromise before limb weakness becomes overt, challenging diagnostic timelines and delaying enzyme replacement therapy.

Pompe disease ERTs: Are incremental gains enough for your patients?

New enzyme replacement therapies for Pompe disease, avalglucosidase alfa and cipaglucosidase alfa, offer incremental improvements over older treatments.

Navigating SMA Treatment: What Parents Prioritise in Newborn Screening Decisions

Parents choosing spinal muscular atrophy treatments for infants diagnosed via newborn screening weigh efficacy, administration, and long-term impact.

Newborn screening: How much function can presymptomatic treatment truly preserve?

Presymptomatic treatment after newborn screening aims to mitigate disease progression, but the extent of preserved function varies significantly across conditions.

Fabry Disease: Why Women Were Left Behind in Diagnosis and Treatment

Women with Fabry disease have historically faced significant diagnostic delays and undertreatment, stemming from outdated genetic assumptions and a lack of recognition of their diverse clinical presentations.