As of May 2025, 62 active clinical trials are ongoing for Fabry disease, including 25 interventional and 37 observational studies, of which 8 are patient registries. Among the trials with known ...

Sharon Hesterlee, PhD, who previously served as chief research officer at the MDA, has been named interim president and CEO. Donald S. Wood, PhD, has retired from the Muscular Dystrophy Association ...

In this episode of the Rare Care podcast, Rare Disease Advisor senior correspondent Larry Luxner, interviews John Berk, MD, director of the Localized Amyloid Clinic at the Boston University School of ...

Physical examination allows for documentation of the signs and symptoms of CAD, including pain and discomfort when swallowing cold foods or beverages and provocation of symptoms with exposure to cold.

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

Consolidation or maintenance therapy significantly improved progression-free survival and overall survival. Zanubrutinib, lenalidomide, temozolomide, and rituximab (RLZT) combined with or without high ...

When treating MF, clinicians customize treatments to align with each patient’s specific risk profile and disease characteristics. Myelofibrosis (MF), a progressive myeloproliferative neoplasm, is ...

Efficacy analyses for the first 2 cohorts of the phase 1/2 studies will compare participant outcomes with those of a propensity score-matched external control group. AMT-130, an investigational gene ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

Researchers found pronounced deficits in the processing speed, executive function, short- and long-term memory, and visuoconstruction of patients with CIDP. Cognitive impairment is an underrecognized ...

There have been studies exploring the idea that chronic obstructive pulmonary disease (COPD) and muscle wasting are linked. I have a heightened interest in learning whether my muscle weakness is ...

Kidney prognostic scores enable clinicians to better assess the risk of kidney failure among patients with AAV and administer treatment accordingly. The novel antineutrophil cytoplasmic antibody (ANCA ...