Rare Disease Report®

Compared with infants kept on a standard dose of hydroxyurea, those receiving escalating doses showed greater increases in HbF and HB without significant toxicity.

The SPHRE trial in Tanzania show significant benefit for children at high stroke risk in sub-Saharan Africa.

Updated findings from the ongoing clinical trial investigating lovo-cel in sickle cell disease and persistent anemia allude to the possibility that a contributing factor of anemia was identified.

An in vitro assessment showed the promising molecule class should be advanced toward prospective clinical trials.

A total of 55 metabolites were significantly different between samples from patients with SCD at baseline and healthy control samples.

According to data presented at the ASH 2022 Annual Meeting, this is the first suggestion of a hydroxyurea-related impact on mito activity in patients with sickle cell disease.

Patients with sarcoidosis who practiced online mindfulness-based cognitive therapy (eMBCT) showed improvements in fatigue, anxiety, depression, and health status.

The BLA was supported by positive data from 54 patients with hemophilia B in the pivotal phase 3 HOPE-B trial.

Therapeutic candidate Sparsentan could expand treatment options for 2 rare kidney diseases. Dr. Jula Inrig expands on the potential for the FSGs patient population.

Dr. Jula Inrig explains the mechanism of action for the Dual Endothelin Angiotensin Receptor Antagonist (DEARA) investigational candidate Sparsentan, for rare kidney diseases.

Nonprofit organizations combined efforts to plan a meeting to inform and educate the FDA and key stakeholders about the experience of caregivers and patients with Phelan-McDermid syndrome (PMS).

Dr. Jula Inrig highlights the key data presented at ASN Kidney Week on investigational candidate Sparsentan for IgA nephropathy.

Aside from the inability to fulfill the site inspection, there was no other reason for the FDA deferral. The approval of the combination drug candidate's 2 components are still expected.

Dupilumab represents the first ever approved treatment for EoE.

Iptacopan has the potential to address an unmet need in PNH by significantly increasing hemoglobin levels in patients who remain anemic, fatigued and dependent on blood transfusions after anti-C5 treatment.

Data from NORD Breakthrough Summit 2022 support the need for exacerbation prevention among patients with bronchiectasis, a rare chronic condition.

Top-line data comparing 2 strains of a non-systemically absorbed drug candidate was announced this morning, with SYNB1934 expected to advance to a phase 3 clinical trial.

Daily administration of AZP-3601 enabled 93% of patients to discontinue standard of care therapy and maintain target mean serum calcium.

Analyses like the Sickle Cell Data Collection (SCDC) have played prominent roles in establishing new SCD clinics, educating health care providers, guiding new research initiatives, and developing state health care policies.

The approval, awarded to Alnylam Pharmaceuticals, is based on the results of the ILLUMINATE-C phase 3 trial.

The FDA granted a Priority Review to the leniolisib New Drug Application (NDA) indicated for individuals with activated phosphoinositide 3-kinase delta syndrome (APDS) 12 years and older.

Dr. Steven Pipe talks about the profound effect the novel recombinant factor VIII candidate demonstrated in patients with hemophilia A.

"We've never had any prophylactic therapy that maintains patients at this level of hemostatic protection well into the normal range for the majority of the week," Dr. Steven Pipe says.

Simon Walsh, MD, and Elizabeth Estes join Lungcast to discuss advancements in biomarker and treatment option deliberation for the rare disease through data.

A draft report released from the Institute for Clinical and Economic Review (ICER) compared the benefits of etranacogene dezaparvovec (EtranaDez) and valoctocogene roxaparvovec (val-rox) to current treatments.

Cases and hospitalizations due to EV-D68, a rare form of enterovirus associated with acute flaccid myelitis (AFM), have been increasing among children across the country.

Acadia Pharmaceuticals announced that the FDA granted a priority review for trofinetide and set March 12, 2023 as the PDUFA date.

The FDA accepted the Biologics License Application (BLA) and granted priority review for velmanase alfa, an investigational enzyme replacement therapy intended to treat the ultra rare disease.

Novel insights into the risk-benefit profile of nintedanib in children and adolescents with fibrosing interstitial lung disease (ILD) were provided by late-breaking data presented at ERS 2022 regarding the InPedILD clinical trial.

A novel biomarker was identified for posterior uveitis that postulates previously undetected sources of green and red emission fluorescent components (GEFC/REFC).