Rare Disease Report®

Axatilimab was awarded approval for the treatment of chronic GVHD in adult and pediatric patients who failed ≥2 prior lines of systemic therapy.

Ravulizumab therapy may enable patients with PNH to achieve activity and patient-reported outcomes comparable to the US general population.

Ocugen will initiate expanded access to OCU400 gene therapy in adults with retinitis pigmentosa prior to BLA approval.

Giroctocogene fitelparvovec achieved primary and key secondary objectives of superiority compared to routine prophylaxis in hemophilia A treatment.

One-year 1/2 data examines the safety and efficacy of OCU400 gene therapy for the treatment of retinitis pigmentosa.

Topline Phase 2b/3 results show high- and low-dose MCO-010 treatment improved BCVA compared to control through 100 weeks.

Mirum Pharmaceuticals submitted an NDA for chenodiol tablets to treat CTX based on positive phase 3 RESTORE trial results.

Long-term Phase 2 data demonstrate KP104's potential as an optimal first-line monotherapy for PNH.

Patients with AATD had increased cardiovascular risk compared to non-AATD COPD and healthy controls, with results suggesting physiological tests may assess risk more accurately.

A Veterans Affairs study finds low alpha-1 antitrypsin phenotyping rates, indicating the need for improved healthcare provider education on AATD.

FDA approves mavorixafor (XOLREMDI) for WHIM syndrome, the first approved treatment for the rare disease.

Abeona's pz-cel is up for indicated use to treat patients with recessive dystrophic epidermolysis bullosa.

Katie Abouzahr, MD, explains the transformative potential of nipocalimab for the treatment of patients with autoantibody-driven conditions.

The phase 2b trial showed a statistically significant improvement of BCVA at week 52 in both the high-dose and low-dose MCO-010 cohorts compared with sham.

Topline results from AURORA indicate that while bitopertin significantly reduced PPIX levels, improvements in light tolerance were not statistically significant.

With drug breakthroughs reaching epidermolysis bullosa, Paller considers what may come next for other rare skin diseases.

Gene and cell therapies are reaching patients with the severe forms of epidermolysis bullosa. An expert explains their differing benefits and strengths.

Positive interim data from the TEASE-3 clinical trial show gildeuretinol slows the progression of Stargardt Disease for up to six years.

Throughout 2023, interest in the application of CAR-T and other cell therapies to autoimmune disease skyrocketed, with a multitude of clinical trials being initiated by various companies.

Phase 3 data presented at ASH 2023 show the gene therapy significantly reduced annualized bleeding rates and the number of total bleeds.

For This Year in Medicine, CGTLive looks back at a landmark first approval, the new treatment opportunities it has provided, and the unmet needs in the field it has brought to light.

The approval is the first for a systemic therapy to treat desmoid tumors, offering patients an alternative to surgery.

New pooled phase 3 and extension trial data show odevixibat continues to improve disease management and itch reduction in children with Alagille syndrome.

The expanded Indication now includes children of all ages with achondroplasia, the most common form of skeletal dysplasia leading to disproportionate short stature.

Though a regimen of steroids and immunosuppressants are well proven, alternative options may be necessary.

Particularly in children, it's critical that referring physicians keep an awareness for clear symptoms and signs of autoimmune liver disease.

The author of the largest clinical trial for pediatric PFIC to date discusses the various benefit maralixibat provides to disease managementr.

Pooled phase 3 data presented at NASPGHAN 2023 support the benefit-risk profile of the IBAT inhibtor in treating the rare liver disease.

Announced by Ionis Pharmaceuticals, topline results show olezarsen met the study's primary endpoint with a statistically significant reduction in triglyceride levels versus placebo.

Crinetics announced findings from the PATHFNDR-1 trial showing the investigative oral daily drug may provide patients with the rare disease an alternative from recurring injection therapy.