Rare Disease Report®

Promising results from the IMerge phase 3 clinical trial met the primary and secondary endpoints in the investigation of imetelstat, a novel telomerase inhibitor developed for hematologic malignancies.

The topline phase 2b data shows both 75 mg and 150 mg doses of atacicept resulted in a 31% mean reduction in proteinuria.

The targeted patient population included those with sickle cell disease or beta thalassemia who were considered at high risk for complications, or otherwise ineligible for standard myeloablative hematopoietic stem cell transplant.

The results show similar rates o colonized C difficile among pediatric patients and adult patients with cystic fibrosis.

The FDA's plans to expedite and expand regulatory pathways has resulted in a novel drug development boom since 2017. The commissioner discusses the details of their strategy.

In part A of the trial, 60% of patients treated with dupilumab weekly met the primary endpoint of histologic remission, compared to 5% of the placebo group.

Dr. Corinna Schultz talks about her latest data and the growing body of literature showing medical complications that can come with sickle cell trait.

New developments in gene therapy offer a promising perspective of a future where curing sickle cell disease (SCD) is possible.

With several newly approved therapies hitting the market and an overflowing pipeline, the FDA has stepped in to help keep the burgeoning world of biotech on track.

Expert Stephanie Guarino, MD, MSHP, shares her plan for the future of pain management specifically for sickle cell disease is based on results from a series of studies.

More research presented by Dr. Stephanie Guarino resulted in a recommended guideline designed for investigating sickle cell disease pain to standardize and enhance the quality of data.

The treatment was superior in various secondary endpoints, included transfusion avoidance, changes from baseline in hemoglobin level, FACIT-F scores and ARC, and the rate of clinical BTH.

Data from the largest investigation of TP53 mutations in pediatric patients with acute myeloid leukemia (AML) is presented at the ASH 2022 Annual Meeting.

"There's no national guidance on how this information should be delivered back to families, which leaves it up to each state's newborn screening program to decide the best route that they see fit," Dr. Corinna Schultz explains.

New phase 2 interim data show rates of the erectile condition were halved after 26 weeks of treatment.

Dr. Stephanie Guarino's novel analysis found a significant relationship between self-efficacy in adults with SCD, and experiences of disease-related stigma.

Spleen size can vary significantly in pediatric patients with sickle cell anemia.

In her mitochondrial work, Dr. Claudia Morris made a novel discovery that wasn't discussed in her presentation at the ASH 2022 Annual Meeting.

The results show the mean change from baseline in PKDD was ‒7.19 for M/M patients, ‒4.58 for P/M patients, and ‒3.94 for mitapivat patients.

"Acute myeloid leukemia (AML) remains the most deadly disease among adults, with a five year overall survival of less than 30%," lead investigator Dr. Molly Tokaz says in an interview.

The results for emotional functioning, social functioning, and nausea and vomiting numerically favored D-Rd at several time points.

The accurate prediction of EF trajectory phenotypes may determine personalization of prognosis and treatment in a pediatric population with acute myeloid leukemia.

Researchers from Germany suggest the utility of platelet and absolute neutrophil counts may be misplaced in current standards for pediatric remission.

Every patient in the study was VOC-free at the time of the data cut.

A whole genomic sequencing study shows what may be influencing risk of quadruple-agent regimen response in patients receiving daratumumab.

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.