Myotonic Dystrophy Steinert disease








09 January 2017

Ionis Pharmaceuticals recently completed a Phase 1/2 clinical trial to evaluate IONIS-DMPK-2.5Rx in myotonic dystrophy patients. IONIS-DMPK-2.5Rx was designed to eliminate the toxic DMPK RNA in muscle that is responsible for muscle manifestations in DM1 patients. There was a small but encouraging trends in biomarker and splicing changes during the trial but drug levels measured in muscles would not achieve the desired therapeutic benefit to treat this disease. For this, Ionis has decided not to advance IONIS-DMPK-2.5Rx. It will instead pursue the discovery of a more potent drug to target DMPK using new muscle-targeting LICA chemistry made at Ionis.

July, 2015

The international congress on myotonic dystrophy (IDMC), which meets every two years, took place from 8 to 12 June 2015 in Paris.

Major advances in clinical research.

On heart level: A study in the service of Denis Duboc at Cochin Hospital in Paris, in patients with a pacemaker, showed that 31% of them died of sudden death. Half being linked to heart rhythm disorders, has been proposed installing a defibrillator instead of pacemaker for patients with ventricular tachycardia or atrial fibrillation.

Cancer risk. Several previous studies have shown an increased risk of cancer in patients with myotonic dystrophy. A study attempted to show whether the risk of brain cancer was increased in the disease. Good news, the brain cancer risk is very low among patients Steinert.

Disorders of the skin. One study showed an increase in the number of moles, noncancerous, increased dryness of the skin and seborrheic dermatitis, that is to say, redness and scales in the scalp in patients with myotonic dystrophy.

Major advances therapeutic research

The major fact of IDMC10 is launching a clinical trial in the United States. This essay is about 80 sick adults who receive treatment or placebo. The objective of this study is to determine drug toxicity in patients. The recruitment of patients was completed and the clinical trial will be 6 weeks. One should have the current results 2016. A first step is crossed, but we must remain cautious. On the one hand, the drug also destroys many mutated RNA than normal hence the possibility of toxic effects. On the other hand, a study in mice shows that treatment with a single drug does not seem to be sufficient to effectively correct the disease.

These data suggest the need to develop new therapeutic approaches. During the conference, several new promising leads were presented. One of them relates to the inhibition of an enzyme responsible for the deregulation of a protein, called CUGBP1, which seems to be involved in several manifestations of the disease. It is interesting to note that this inhibitor is already in clinical use and thus a clinical trial could begin quickly. By cons, many of these new therapeutic research is still in its infancy and it will take several years to assess their effectiveness, but hope remains.

Other advances presented it must be emphasized the development of new models of the disease, as human neuronal cultures from patients with the disease and mouse models are essential for drug screening. Further significant progress has been presented on the mechanisms of disease that may open new therapeutic avenues.

This 10th IDMC opens therapeutic perspectives for the sick. Although the road ahead is long, the hope of a treatment for this patient is increasingly likely.

December 2014

Good news.
Isis Pharmaceuticals, Inc. has initiated a Phase I/II trial for ISIS-DMPKrx in DM1 patients.

This trial is designed to evaluate the safety and tolerability of multiple doses of an investigational compound, ISIS-DMPKrx, in adult patients with DM1. ISIS-DMPKrx is designed to eliminate toxic RNA in cells, including muscle cells, for the treatment of DM1. The trial will include 36 patients with DM1 for 24 weeks and will be done in 4 USA universities. Result are expected around May 2016.

June 2014

Phase 1 clinical trial to treat myotonic dystrophy type 1

Isis Pharmaceurticals, Inc., announced today that it has launched a Phase 1 clinical trial in DM1. This is a normal volunteer study evaluating a single dose of the drug. Next study will be a multiple dose study in patients which should start in the fall if all goes well with this study.