ISIS Announces Phase I trials For Myotonic Dystrophy Type 1 Drug

Happy Days! A clinical Trial is going to start on Phase one of Myotonic Dystrophy Drug. That means that a small number of patients in the US usually under 50 will get a chance to try the drug. The purpose of the Phase I trial is to

Try out the drug
Find an optimum dose
Assess Safety of Drug

More on what a phases of clinical testing mean  (From MD Anderson site)

What are Phase 1 Clinical Trials?

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Case Reports of Pregnancy and Myotonic Dystrophy

With the correct diagnosis myotonic dystrophy can be prevented for the next generation. By using pre-implant diagnosis the next generation can be assured not to have myotonic dystrophy. This is an expensive and not practical approach in all countries though.  This blog contains  case reports from Pakistan of two case studies.

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Drug Testing for Myotonic Dystrophy Drug Starts this Fall

Isis Pharmaceuticals has announced a strategic partnership with Biogen to begin testing a Drug DMPKRx in Humans this fall. On a webcast that occurred on Sept 9, 2013 Isis CEO announced a strategic partnership in which Isis is receiving upfront payments of $12 Million when the start of toxicology tests begin.

The progress of Isis has been rapid for this drug. Within one year Isis identified  the drug  this is extremely fast. Toxicology testing program will begin this year 2013. Most likely this will be a pre-clinical toxicology tests to insure that the drug is safe in animal models. Biogen and Isis are working closely to identify bio markers and clinical testing which will begin in 2014. Bio-markers are evidence that the drug actual works to the FDA.

This fast progress is similar to what other companies are finding. As the senior researchers have said  that the toxicity of the mutant myotonic dystrophy mRNA is very sensitive to these antisense drugs and other approaches.

This key announcement shows that Isis is making vast strides in this area and that human trials are set for 2014 to begin. To make sure that you are considered for the Trials:

1. Make sure that you are on the Myotonic Dystrophy Foundation Registry
2. make sure that you are on the Rochester Registry
3. make sure that you are registered with MDA in USA.

We are making amazing progress! Hope is here!


Juvenile and Childhood onset DM


There is not much information on the juvenile form of CMD. There is a really good 30 minutes video about the Childhood forms (Red link at end of column). There is also a drug under development by Ionic Pharmaceuticals in Carlsbad, CA. 

BREAKING NEWS ON TREATMENTS: A recent study (Dec 2015) by Japanese and Polish researchers have found that Erythromycin an FDA approved drug might help with the treatment of Myotonic Dystrophy. This drug helped with the treatment of gastric symptoms in patients with myotonic dystrophy in a separate study in 2002. As the Juvenila and Childhood forms will be there for years your doctor may want to consider this treatment. Read more about this potential treatment here.

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Your Child and Encopresis
Susan Poulton, RNC, ARNP, CNS II and Jeanne Torrens, RN, MSN, CNS II
Updated Spring 2001 by Joni Bosch, PNP

What is encopresis?

When a child who is older than four regularly has stool or bowel movement accidents, the condition is called encopresis. Chronic constipation often leads to encopresis. The stools may be firm, soft, or liquid. We don’t always know why an individual begins to have encopresis.

What causes encopresis?

During toilet training, a child learns how to control bowel movements. During this process, the child is taught to recognize signals from the muscles and nerves that warn it is time for a bowel movement. If something interferes with these signals, then stool accidents will eventually happen.

Encopresis occurs when feces, or stools, are allowed to build up in the colon (or large intestine) over a period of time. This may happen because a child does not have regular bowel movements, or because the bowel doesn’t empty completely on a regular basis. Over time, the feces that stay in the bowel become large, hard, and dry. At this point, having a bowel movement may be painful. Liquid feces often leak out around the hard, dry stool. The colon and rectum stretch. The stretched muscles and nerves give fewer and fewer signals to the child’s brain about the need to have a bowel movement. This decrease in signals results in stool accidents, and the colon and rectum often don’t empty as they should (see Figure 1).

1. Feces or bowel movements move through the colon on their way to the rectum.

2. If these feces aren’t passed…

3. … they will collect into a large mass in the rectum. This can cause a condition known as megacolon. More liquid fecal matter will sometimes run down around the more solid feces.

4. If the child’s sphincter relaxes, liquid waste may leak enough to soil a child’s clothing.

How can I tell if my child has encopresis?

You should be concerned about the possible development of encopresis if you find the following:

Your child has stool accidents or liquid stools at times other than during an illness.

Your child complains about clothing that is too tight around the waist. If you press gently around the edges of your child’s stomach or abdomen, you may find a mass that feels almost like the links of a sausage. The mass might be on one side, or might have the shape of a large, upside down U that runs up one side of the abdomen, across the top and down the other side.

Your child complains of pain related to having a bowel movement. Sometimes a child will tell you that he or she can’t go to the bathroom because it hurts too much.

Your child has a poor appetite. A child with encopresis may complain of a stomach ache, heartburn, or cramps; may feel too full to eat; or may vomit.
Why is encopresis a concern?

Untreated encopresis can lead to several conditions that threaten the health of your child. These conditions include:

Megacolon, a disorder in which the colon gets bigger because of the large amount of feces that stay in the bowel. As the colon gets bigger, its muscles and nerves lose the ability to signal the need for a bowel movement.

Bleeding and cracking of the skin, called fissures, may occur around the rectum as the result of passing large, hard, dry stools. This can be very painful.

Blood may appear in the stool, due to the irritation of the colon lining caused by hard, dry, compacted feces.

Children may develop urinary tract infections and wetting accidents when the overloaded colon presses on the bladder, or prevents the bladder from emptying completely.
How is encopresis treated?

The success of any treatment for encopresis will depend on the two factors:

The child’s ability to carry out the treatment plan.
The family’s support of the child.

Encopresis cannot be cured overnight.
It is important to understand what encopresis really is. The problem is not “in the child’s mind.” It is not a “behavior problem.” Encopresis happens because a child’s colon doesn’t work as it should.

The child and the family will need to be patient. It is important that the child isn’t blamed or teased about this condition. Instead, the child should be praised as each step of the treatment is successfully carried out.

The treatment of encopresis begins with the use of enemas to clean out the colon and rectum. When this has been done, the child will need to regularly take laxatives to soften stools and promote bowel movements. The child won’t become addicted to the laxative, or dependent on its use. Laxatives are needed to help clear out the feces. Then the laxative helps the colon begin to work correctly.

In addition, the child will need to use a regular toileting schedule. After each meal and at bedtime, the child must sit on the toilet and try to have a bowel movement. This goal is to establish a pattern of regular bowel movements. It is easier to have a bowel movement after meals because of the gastrocolic reflex that occurs when we eat. As food goes to the stomach to begin to be digested, this reflex makes the intestines contract to move the stool along so that there will be room for more digested food.

As part of toileting, a child will need to practice the Valsalva maneuver. This is the technique of holding your breath while tightening your abdominal muscles and bearing down to have a bowel movement.



Diet and exercise are important.

A child should eat foods that are high in fiber, like fresh vegetables and fruits.
They should drink plenty of fluids throughout the day.
Exercise is also important in starting and maintaining healthy bowel habits.
These three factors — fiber, fluids, and exercise — help keep stools soft and bowel movements regular.

The successful treatment of encopresis typically takes from six to twelve months. It is important to continue both the bathroom schedule and the use of laxatives. This should be done for at least 6 months, while the colon heals.

Remember that even after treatment ends, a child must maintain good eating, exercise, and toileting habits. When this is done, encopresis usually will not recur.

Please note — Before using this information, please discuss it with your family health care provider.

Find more information about this subject in the online catalog of our Disability Resource Library.

“Your Child and Encopresis: Easy Reading Flier”