Rare Disease

Officials recently reported the first known fatality from the virus. Here's what health professionals say to watch for.

From the February cover: Joseph Zabinski, PhD, MEM, and Stefan Weiss, MD, MBA, FAAD, share their expertise into AI’s capabilities in dermatology and specifically, rare diseases such as generalized pustular psoriasis.

Krystal Biotech’s B-VEC was administered as an eyedrop for a patient with dystrophic epidermolysis bullosa with cicatrizing conjunctivitis.

Factors such as nutritional compromise, low levels of vitamin D, and more, negatively affect bone metabolism in this patient population.

J3401 went into effect on January 1, 2024.

Chiesi Global Rare Diseases recently announced the approval of the topical treatment.

With greater understanding of this rare pathology and its signs and symptoms, review authors believe this understanding could prompt early and necessary intervention.

The FDA’s PDUFA target date is May 25, 2024.

There are currently no FDA-approved therapies for the rare, genetic disease.

The PC Project provides patients with access to the International PC Research Registry for clinical help with their rare and painful skin condition.

Kyverna Therapeutics can now initiate its phase 1/2 open-label, multicenter study of KYV-101.

A BLA is expected to be submitted by Q3 of 2024.

Timber Pharmaceuticals has been developing TMB-001 for the treatment of congenital ichthyosis.

The company is set to meet with the FDA in August to discuss the epidermolysis bullosa drug’s anticipated BLA.

Patients with the rare autosomal recessive genodermatosis are prone to extreme photosensitivity and changes in skin pigmentation.

Researchers conducted a review of treatments for the rare disease in the pediatric population.

New pharmacokinetic phase 3 data will be presented at the 2023 Society for Pediatric Dermatology meeting next week.

In rare cases, chromhidrosis may be associated with underlying medical conditions, such as hyperthyroidism, dermatitis herpetiformis, and multiple myeloma.

In the case of one patient, researchers found that topical tapinarof cream demonstrated therapeutic efficacy in nonulcerated necrobiosis lipoidica.

Scientists have found a new therapy for the severe inflammatory skin disorder.

Phase 3 data of Oleogel-S10 was presented in a late-breaking session at AAD 2023 in New Orleans.

Timber Pharmaceuticals is on its way to developing the first FDA-approved treatment for congenital ichthyosis subtypes.

Yale School of Medicine is a testing site for a potential new congenital ichthyosis treatment.

Today is Rare Disease Day. The Food and Drug Administration (FDA) defined a rare disease as a condition affecting less than 200,000 people in the United States.

The autoinflammatory condition is associated with mutations in the NOD2 gene and usually affects children younger than 4 years.