Rare Disease Advisor

14/11/2025

Patients with (HAE), particularly those without attacks, exhibited more positive emotional patterns than healthy controls, and higher positive affect correlated with improved quality of life (QoL), according to a preprint published in Scientific Reports.

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Patients with hereditary angioedema, especially those without recent attacks, reported more positive emotions than healthy controls.

14/11/2025

A pattern recognition approach is key to identifying and diagnosing autoimmune neuropathies other than typical chronic inflammatory demyelinating polyneuropathy ( ) and its variants, according to a new article that appeared in Neurologic Clinics.

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Proper diagnosis and treatment of these diseases are of great importance, as early immunotherapeutic intervention can help reduce nerve injury.

14/11/2025

A consensus project has highlighted hospital pharmacy-led priorities to improve care for patients with (HAE) in Spain, according to a report published in the European Journal of Hospital Pharmacy (The European Association of Hospital Pharmacists).

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An expert panel was convened to identify key areas of activity for Spanish hospital pharmacists to support HAE management.

14/11/2025

Early treatment with may provide better outcomes for patients with new-onset generalized (MG), according to the long-term follow-up results of the clinical trial published in the European Journal of Neurology.

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Based on the results of the RINOMAX trial, early intervention with rituximab treatment may benefit patients with new-onset MG.

14/11/2025

: “Randomized controlled trials have long been considered the gold standard, but usually they need a very large sample size, generally the study time is fixed, there’s limited generalizability, and patients are equally likely to receive placebo or treatment. So there’s less incentive for head-to-head trials for two new therapies.”

- Imre Noth, MD, professor at the University of Virginia in Charlottesville, speaking Nov. 14 at the 2025 Pulmonary Fibrosis Foundation PFF Summit in Chicago.

Image and quote taken by Senior Correspondent, Larry Luxner.

14/11/2025

: “We all share common goals: fewer side effects; less frequent dosing; an inhaled therapy; lower costs; treatments designed for mild, moderate and severe disease; and prolonged time to need supplemental oxygen. But don’t forget clinical trials. We still need them.”

- Marilyn Glassberg, MD, professor at Loyola University Chicago Stritch School of Medicine, speaking Nov. 14 at the 2025 Pulmonary Fibrosis Foundation PFF Summit in Chicago.

Image and quote taken by Senior Correspondent, Larry Luxner.

14/11/2025

: “For researchers, clinical trials begin at the screening visit and end with the last clinical visit. My perspective is that for patients, it actually begins sooner and ends later. What happens or doesn’t happen in those pre- and post-phases really matters.”

- Donna Dinkin, DrPH, a PFF patient ambassador with scleroderma-associated interstitial lung disease (ILD), speaking Nov. 14 at the 2025 Pulmonary Fibrosis Foundation PFF Summit in Chicago.

Image and quote taken by Senior Correspondent, Larry Luxner.

14/11/2025

: “Clinical trial research is about taking a leap of faith and doing something different. But we need to have active engagement in order for folks to feel they’re contributing to science. If they’re not, then it’s really hard for them to have a case for complaints.”

- Karen Mancera-Cuevas, DrPH, senior director of health equity at the National Health Council, speaking Nov. 14 at the 2025 Pulmonary Fibrosis Foundation PFF Summit in Chicago.

Image and quote taken by Senior Correspondent, Larry Luxner.

13/11/2025

🎨 Rare Vision, launched less than a year ago by Gabriela Romanow—clinical research coordinator and community relations administrator at Massachusetts General Hospital (MGH)—is giving artists with rare neuroimmune disorders a powerful creative platform.

The project showcases their artwork and raises funds for MGH’s Neuroimmunology Clinic and Research Laboratory, where Romanow works. All proceeds from artwork purchased online directly support the clinic’s research and patient care.

📖 Read the full feature by Larry Luxner: https://bit.ly/3LBHDSx

Money raised by the project, whose works are available online, benefits Massachusetts General Hospital's neuroimmunology clinic.

13/11/2025

💭 Alithea Athans, CAD Contributor, reflects on the emotional journey of living with a rare disease — and what it means to grieve your past self.

“As I speak to others with rare diseases, I hear how we share a common thread: the loss of our identity, our independence in some cases, and the rhythm of our lives.”

Read more ➡️ https://bit.ly/47WriPI

13/11/2025

Nerve ultrasound is a “highly promising” tool for the differential diagnosis of inherited and acquired demyelinating polyneuropathies, according to a systematic review published in the journal Neuropediatrics.

Read more: https://bit.ly/4qSnqId

Nerve ultrasound is a "highly promising" tool for the differential diagnosis of inherited and acquired demyelinating polyneuropathies, according to researchers.

13/11/2025

A patient with a prostate-specific membrane antigen ( )-positive PET/CT findings was ultimately diagnosed with (SM) rather than metastatic prostate cancer, according to a recently published case report in the European Journal of Nuclear Medicine and Molecular Imaging.

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This report is the first documented case of PSMA expression in systemic mastocytosis, highlighting a potential diagnostic dilemma for clinicians.