Top 5 Rare Disease News of the Week—August 26, 2018

#5 Immune Cells Linked to Development of Gastric Tumors in Peutz-Jeghers Syndrome

Investigators from McGill University have discovered a new link connecting immune cells and the development of gastric tumors in those with Peutz-Jeghers Syndrome (PJS), a hereditary cancer syndrome characterized by the development of gastrointestinal (GI) polyps.

Specifically, the team found that abnormal inflammation elicited by the immune system could lead to cancer progression in patients with PJS. With the newfound data, investigators deduced that targeting deregulated inflammation could be possible therapeutic approaches.

“Basically, our work changes the way we have been thinking about this disease, with our focus now on understanding how the immune system contributes to polyp development,” said Russell Jones, Phd, BSc, Goodman Cancer Research Centre, Department of Physiology, McGill, in a recent statement. “We hope that our discovery will lead to new treatments for PJS patients and others with gastrointestinal cancers. We’re pretty excited about it.”

Read more about the immune cells linked to the development of gastric tumors in Peutz-Jeghers Syndrome.

#4 Tafamidis Reduces Mortality in Patients with Transthyretin Amyloid Cardiomyopathy

Primary results yielded from a phase 3 trial demonstrate that Pfizer's tafamidis significantly reduced the hierarchical combination of all-cause mortality and frequency of cardiovascular-associated hospitalizations compared with placebo over 30 months in patients with wild-type or hereditary transthyretin amyloid cardiomyopathy (ATTR-CM).

The results were published in the New England Journal of Medicine and presented at the European Society of Cardiology Congress 2018 held in Munich, Germany.

“ATTR-CM is a rare, progressive and universally fatal disease associated with progressive heart failure, and for which there are no approved pharmacologic treatments. We're committed to doing everything we can to help to educate and raise awareness for this rare disease and ultimately help patients in need of treatment,” a representative from Pfizer told Rare Disease Report^®. “Tafamidis, our investigational oral therapy for this condition, remains the only potential treatment that has been evaluated in a Phase 3 trial designed to assess the safety and efficacy, specifically in patients with ATTR-CM.”

Read more about how tafamidis reduces mortality in patients with transthyretin amyloid cardiomyopathy.

#3 Experimental Gene Therapies Push Hemophilia Toward Precipice of Long-Lasting Treatment

Early trials have shown promising results for hemophilia therapies and now could be the most promising time for a lasting treatment and possible cure.

Hemophilia, or the inability to form blood clots, leads to sometimes extreme bleeding events in patients. There is no cure, though intravenous infusions of novel therapies have given hope of a treatment. Investigators in the hemophilia field are also working towards a gene therapy, though something of that nature can only be used a single time per patient.

One example cited by the New York Times was a study that involved a single intravenous dose of AAV5 factor VIII in 7 male patients with severe hemophilia A. The patients were assigned to 1 of 3 cohorts and received either a low dose, an intermediate dose, or a high dose of the AAV5 factor VIII. The investigators observed the patients for 52 weeks.

The investigators wrote that while some hemophilia B patients have seen success with gene transfer therapies, similar techniques haven’t worked for hemophilia A patients.

Read more about how experimental gene therapies are pushing hemophilia towards long-lasting treatment.

#2 Achromatopsia Treatment, AAV-CNGA3, Granted Rare Pediatric Disease Designation

The US Food and Drug Administration (FDA) has granted a rare pediatric disease designation to MeiraGTx Holdings Plc’s AAV-CNGA3 for the treatment of patients with achromatopsia (ACHM) due to mutations in the CNGA3 gene.

AAV-CNGA3 is a gene therapy engineered to restore cone function in eye cells; it is administered through subretinal injection, which allows treatment delivery to the cone receptors at the back of the eye.

“Without any currently approved therapies, we are very pleased by the FDA’s decision and the recognition from the Agency that those suffering from ACHM are in need of urgent treatment options,” said Alexandria Forbes, PhD, president and chief executive officer of MeiraGTx, in a statement regarding the recent orphan drug designation granted to AAV-CNGA3 by the FDA earlier this August. “This designation is the second important regulatory milestone we’ve received for AAV-CNGA3 in just 2 months and we look forward to continuing the momentum in this program for those in need of relief from this debilitating disease.”

Read more about the achromatopsia treatment, AAV-CNGA3, granted a rare pediatric disease designation.

#1 FDA Approves First Chemotherapy-Free Treatment for Waldenström's Macroglobulinemia

This morning, August 27, 2018, the US Food and Drug Administration (FDA) approved ibrutinib (IMBRUVICA, AbbVie) in combination with rituximab (RITUXAN) for the treatment of Waldenström’s macroglobulinemia. This combination is the first and only chemotherapy-free treatment option for patients with Waldenström’s macroglobulinemia.

"Ibrutinib/rituximab does potentially become that new standard of care because you can see that rpaid reduction in IGM, that rapid improvement in hemoglobin, and I think that's important, but you also see a consistent response across all different types of mutation you see in Waldenström’s macroglobulinemia too," said Mark Wildgust, vice president of Global Medical Affairs Oncology, Janssen, in an exclusive interview to Rare Disease Report ^® at the 2018 American Society of Clinical Oncology (ASCO 2018) Annual Meeting.

Read more about the ibrutinib and rituximab combination therapy treatment approved for Waldenström’s macroglobulinemia.