Mathew Shanley

Preclinical murine study data from Sangamo Therapeutics’ in vivo genome editing program for MPS II provided proof of concept for development of its product candidate SB-913.

PTC Therapeutics, Inc. and the CDHI Foundation Inc. are partnering for a research collaboration that will hopefully advance the former’s Huntington’s disease program.

Using MRIs and computer models, researchers from the University of North Carolina School of Medicine were able to prove that babies who develop the fragile X syndrome have less white matter circuitry than infants who did not.

Topline data from Rigel Pharmaceuticals’ proof-of-concept Phase 2 study of fostamatinib in patients with IgA nephropathy, or Berger’s disease, were announced today.

BPN14770, in development for the treatment of Fragile X syndrome, was granted Orphan Drug Designation by the U.S. Food and Drug Administration this morning.

The first patient has been dosed in MyoKardia’s Phase 2 MAVERICK-HCM clinical trial of mavacamten in symptomatic non-obstructive hypertrophic cardiomyopathy patients.

"A perspective on ‘cure’ for Rett syndrome” concluded that therapies should focus on improving patients’ quality of life, and expectations for a radical, rational treatment should not be “inflated beyond cautious optimism.

Results from a study published have shown consistency with previous data, concluding that dual targeting is effective in mantle cell lymphoma.

FDA Commissioner, Scott Gottlieb, MD released a statement this morning, stressing the FDA’s intention to incorporate the patient experience into the regulatory authority’s benefit-risk assessments.

Results from a recent study found that the mutated huntingtin gene in patients with HD generates a class of small molecules that are highly toxic to cancer cells, but not healthy cells.

A study published in the journal eLife suggests that blocking an enzyme could reduce levels of the mutant huntingtin (mHTT) protein.

The U.S. Food and Drug Administration (FDA) has granted accelerated approval to blinatumomab (Blincyto) for the treatment of adults and children with B-cell precursor ALL who are in remission, but still have minimal residual disease.

In the ATTR-ACT study, tafamidis exhibited a statistically significant reduction in all-cause mortality and frequency of cardiovascular-related hospitalizations in transthyretin cardiomyopathy patients.

A new study concludes that, among patients with AML, the detection of molecular minimal residual disease during complete remission had significant independent prognostic value with respect to relapse and survival rates.

Clinical data from an ongoing Phase 2 study of PBI-4050 shows that the drug provides a clear clinical benefit in patients with Alstrom syndrome.

Results from a trial sponsored by the National Cancer Institute demonstrate that sorafenib tosylate (Nexavar) extended progression-free survival in patients with desmoid tumors or aggressive fibromatosis.

At the 16th International Symposium on Amyloidosis, Alnylam presented results from the APOLLO Phase 3 study of patisiran, which targets transthyretin in hATTR amyloidosis.

The U.S. FDA announced that Breakthrough Therapy Designation had been granted to Fennec Pharmaceuticals for its unique formulation of cisplatin and sodium thiosulfate (STS).

This morning, Protagonist Therapeutics announced that the Phase 2b PROPEL study of PTG-100 in patients with ulcerative colitis has been discontinued.

Data presented at the 16th International Symposium on Amyloidosis in Japan were presented this morning, showing that inotersen-treated patients with hATTR amyloidosis continued to exhibit sustained benefit.

Data from a Phase 2 study suggests that voxtalisib has a promising safety profile, but might not be as effective in patients with aggressive malignancies as it is in patients with follicular lymphoma.

A Phase 2a clinical study evaluating Molgradex was recently initiated by Savara, Inc. The study intends to evaluate the reduction of sputum samples without growth of non-tuberculosis mycobacteria during the treatment period.

In February, the U.S. FDA accepted the New Drug Application for migalastat, a potential Fabry disease therapy in development by Amicus. This morning, it was announced that it was approved in Japan.

A team of researchers have found that targeting the MLH3 protein involved in DNA repair can reduce the GAA repeat expansion that results in Friedreich's ataxia

This new infographic from Rare Disease Report provides 5 little-known facts about the Huntington's disease that might not necessarily be covered in news articles.

The U.S. FDA has expanded the approval for nilotinib to include the treatment of first- and second-line pediatric patients with Philadelphia chromosome-positive chronic myeloid leukemia in the chronic phase (Ph+ CML-CP).

A 40-year old patient at the UNC Clinical and Translational Research Center was treated with SB-913 this week.

A genetic mutation that has previously been linked to Parkinson’s disease and Alzheimer’s disease could also be connected to ALS, according to a team of researchers supported by the National Institute of Health.

Positive data from a Phase 3 study of inotersen (IONIS-TTRx) in patients with hereditary ATTR amyloidosis was presented at the 2018 American College of Cardiology Annual Meeting.

The U.S. FDA has granted Pedmark, a unique combination of cisplatin and sodium thiosulfate, Fast Track designation for the prevention of cisplatin-related ototoxicity in pediatric patients with standard risk hepatoblastoma.