Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

A diagnosis of ATTR-CM in a more recent era was associated with older age, White race, wild‐type disease, and tafamidis treatment. The survival of patients diagnosed with transthyretin-mediated ...

Generalized pustular psoriasis (GPP) is a rare, severe form of psoriasis characterized by the acute onset of eruptions of sterile pus-filled skin lesions and rashes with or without systemic ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Almost all patients with CIDP taking azathioprine (8 of the 9 patients) went into remission. Oral immunosuppressive drugs, such as azathioprine, may be a cheaper and more convenient alternative or ...

A new phase 2 clinical trial to test the safety, efficacy, and tolerability of TAK-411 for the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) is now open. The open-label, ...

From landmark gene therapy approvals to illuminating discoveries into the pathogenesis of rare diseases, 2023 saw substantive advances in rare disease diagnosis and treatment. The following list of ...

Supplemental oxygen therapy, supplied through tanks or an oxygen concentrator, plays a major role in the quality of life of patients with low oxygen levels due to pulmonary arterial hypertension (PAH) ...

Lyza Weisman (at right), who has spinal muscular atrophy, with her caregiver, Soraya Perales, at the 2025 MDA conference in Dallas, Texas (Photo by Larry Luxner) Lyza Weisman spoke at the recent MDA ...

In CIDP, SOC therapies (immunoglobulins/corticosteroids) are burdensome, have variable efficacy, and significant side-effects. Two phase 3 clinical trials, MOBILIZE ...

Several factors can contribute to the suppression of bone marrow erythropoiesis in infants with HDFN, including maternal antibodies, intrauterine transfusion, and simple transfusion. The suppression ...

Rilzabrutinib significantly improved fatigue scores and reduced the need for rescue therapy by 52% vs placebo. Rilzabrutinib has shown clear evidence of efficacy and safety in patients with persistent ...