Common Antibiotic Might Help Treat Myotonic Dystrophy Type 1 – Promising Therapy

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In a study published in December 2015 in a peer review journal researchers from Japan and Poland found that a commonly used antibiotic might assist in the treatment of Myotonic Dystrophy. This is a sort of stunning discovery as there is no treatment identified to treat the disease. Treatment now consists of reducing symptoms.

The researchers first began by screening antibiotics. In a screen of 20 antibiotics 2-3 were found to have some potential with the disease.When screening the drugs they first used mice cells and lab equipment to find the most promising compounds (drugs). . Erythromyicin was found to have the highest attraction to the RNA CUG expansion (The opposite of CTG repeats in the DNA) Erythromycin was the drug that the researchers chose to study. Click here for the screening graph Muscleblind and Various antibiotics and compounds

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General Information on DM1

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This is a diagram or the major effects of Myotonic Dystrophy on the Human. Click to enlarge

The Blog. You’ve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy  Worldwide. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. One out of two children of a person  with myotonic dystrophy will most likely have  the disease. Unlike most diseases, the symptoms that a person with this disease varies from person to person. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person.

Four treatments that have potential have now surfaced about Myotonic Dystrophy. These are three approved Drugs by FDA and “off label use” may assist some people with DM1. (As always check with your Doctor) . The other is a drug that is not FDA approved in the USA for human use. Three off label uses have showed promise in mice studies but as yet there is no human data… In January of 2017 Ionis Pharmaceuticals stopped the trials of its DMPK-2.5Rx drug as it failed to show promise in the human trials.

====> Erythromycin study in cells and mice successfully pushes back disease in Mice
====> Actinomycin D study in cells and mice successfully pushes back disease in Mice
====> Phenylbutazone Ketoprofen  Study in cells and mice pushes back disease in mice. NSAID type drugs. Ketoprofen would be strongly preferred.

NOTE: These potential treatments are just that potential. NO studies in humans have been completed and reported. However, more and more information is available and hereat this si you will find all that is published. You and your doctor should discuss these if you feel it warranted.

Myotonic dystrophy is a rare disease with an incidence of about one in 8000 in European and North American Populations. The incidence in Japan is approximately 1 in 20,000. In Africa and China the incidence is much lower.  The incidence of the congenital form of myotonic dystrophy  is much lower with an incidence of 1/100,000. A more recent study by Campbell in Canada put the incidence of the congenital form at 1/47,000 That means that most doctors will not have a patient with the disease in their practice. Thus, many people are turning to organizations like the Myotonic Dystrophy Foundation for help and assistance.

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New Company Formed to Help Treat Myotonic Dystrophy

This month a new company Dyne Technologies was formed pioneering targeted therapies for muscle diseases, with an initial focus on Myotonic Dystrophy. This Company has been funded with $50 million in a series A round which is a solid foundation to begin a process to identify a treatment.
The approach they are using focuses on muscle. Of course, myotonic dystrophy is more than just muscle weakness so other organs and systems may be helped as well.

We are advancing treatments for serious muscle diseases, with an initial clinical focus on myotonic dystrophy type 1 (DM1), a rare, inherited disorder that causes muscle-wasting as well as cardiac and pulmonary dysfunction.

For each of the estimated 40,000 people in the U.S. living with DM1, the underlying cause of the disease is a genetic mutation in the DMPK gene. Despite clear drug targets and well-understood biology, drug development efforts have not resulted in effective therapies, largely due to the inability to deliver enough medicine to muscles while minimizing exposure to other tissues. Through our revolutionary FORCE platform, we aim to bring the first disease-modifying treatments to patients and families impacted by DM1.

Dyne Therapeutics

How does it work????

  • We have designed a therapeutic molecule by linking an antibody to an oligonucleotide.
  • The receptor is highly expressed on muscle cells. By engaging the receptor, the antibody brings the oligonucleotide to the primary site of disease and facilitates delivery into the muscle cells.
  • Once inside the cell, the oligonucleotide binds with the RNA that is driving disease progression.
  • Disease-causing RNA is degraded.
  • This highly targeted approach is designed to promote muscle health.
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MDF Annual Myotonic Dystrophy Conference 2019 in Philly

The date for the annual Myotonic Dystrophy Foundation conference has been announced for Sept 13-14th 2019 in Philadelphia, PA at the Loews Hotel The conference price is US $158.61 This is generally a great conference both for information about the disease and networking for people who have the disease and families and caregivers. Highly recommended. Here is some information about the conference and some links

The Myotonic Dystrophy Foundation (MDF) is pleased to announce the 2019 MDF Annual Conference, taking place Friday, September 13 and Saturday, September 14, 2019, at the Loews Philadelphia Hotel in Philadelphia, PA. This year’s conference program will include a host of sessions exploring research, drug development, disease symptom management, and provide formal and informal community networking opportunities.

An all-day Friday Professionals Track for industry and academia will provide closed sessions on a variety of current research topics, a Drug Development Roundtable, and more.

Professionals interested in attending the full-day meeting: CNS Outcome Measures Development Workshop, being held Thursday, September 12 at the Philadelphia Convention Center, need to register separately for this event. Click here for more information.

Join us at the Loews Philadelphia Hotel by the historic Reading Terminal Market for this outstanding DM event.

Below is the link to the Eventbrite webpage for more information and registration

https://www.eventbrite.com/e/2019-mdf-annual-conference-registration-58404540553?aff=ebdsorderfbbutton&fbclid=IwAR2bkdLfQOT3jYBWgmOj5mhuZ-hCXjg_Y1dsMTRN_WRWtK4hwLDkbg8zm74

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Rating Scale for Studies with Congenital Myotonic Dystrophy Released by AMO

New Ratings scale positioned to deliver meaningful benefit for clinical research presented at 2019 MDA Clinical and Scientific Conference in Orlando, FL

LONDON and DURHAM, N.C., April 16, 2019 /PRNewswire/ — AMO Pharma Limited (“AMO Pharma”), a privately held biopharmaceutical company focusing on rare, childhood onset neurogenetic disorders with limited or no treatment options, today announced the presentation of a new clinician-completed rating scale to assess features of congenital myotonic dystrophy type 1 (CDM1). An overview of the new rating scale was presented on Monday, April 15th in a poster presentation titled, “The Development of the Clinician-Completed Congenital Myotonic Dystrophy Type 1 Rating Scale (CDM1-RS)” led by Joseph Horrigan MD, AMO Pharma’s chief medical officer, during The Muscular Dystrophy Association (MDA) Clinical & Scientific Conference at the Hyatt Regency Orlando.

“Standard assessment tools should be used to follow FDA guidance and capture all of the characteristic symptoms of a condition to be useful in clinical trials. To that end, the CDM1-RS rating scale has been evolved from the well validated MDHI and CCMDHI measures developed by professor Chad Heatwole and professor Nicholas Johnson in the hope it can become a widely accepted clinician instrument for CDM1,” said Michael Snape, chief executive officer of AMO Pharma. “The availability of scale to assess CDM1 can expand our understanding of this disorder, streamline the diagnostic process and could provide essential insights to guide future clinical research.”

CDM1 is a genetic disease caused by a large tri-nucleotide expansion repeat adjacent to the DMPK gene. Symptoms usually present shortly after birth and include difficulty with thinking and problem solving, speech impairment, symptoms of autism and weakened muscles. There are currently no approved therapies for CDM1. Patients are often treated with a combination of medical interventions designed to address individual symptom as they arise.

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International Scientist meeting of Myotonic Dystrophy Researchers in Sweden 10th-14th June 2019

The 12th bi-annual IDMC (International Myotonic Dystrophy Consortium) meeting will be held in Gothenburg, Sweden From June 10-14th of 2019. This is a biannual meeting of the key researchers in the Myotonic Dystrophy Space.. This conference is very scientific generally requiring a masters level or greater science skills in the biological area. There is usually attached a lay conference for DM1 and DM2 for those that want to have some interaction with the Myotonic Dystrophy scientists and glean the latest and greatest from the community. See www.idmc12.org for more information.

Some family members attend just to get a sense of the scientific community and the direction of the research and state of the art in potential therapies.

Registration Fee for non-scientists is about $400 for the full program or $40 for the patient program which is one day. The fees are paid in Swedish currency. The description of the patient day (which will be in Swedish I think) is as follows:

THE PATIENT PROGRAM IS BELOW:

Welcome to a lecture day for you with Dystrophy Myotonika and your relatives

In connection with the international conference on dystrophia myotonika IDMC -12 in Gothenburg, a lecture day will be arranged for the patient group and their relatives. International lecturers from IDMC-12 will be invited together with Swedish lecturers, where the current research situation will be presented. Programs for the day will be available on the conference's website https://idmc12.org/

The lecture day will be held at Dalheimer's house on June 14, 2019. The program starts at 10:00 but with registration and coffee from 9.00. The day ends at 16.00. The cost of the day is 400 Incl VAT (320 excl. VAT) and includes lecture, coffee and lunch.

All prices are listed in sec and excluding 25% VAT.
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SPARK PROGRAM FOR AUTISM

There is a new registry for Autism based at Univ California San Diego. This is called the Spark Program. 50% of children with myotonic dystrophy have some type of autism. I think that studying the autism in myotonic dystrophy would lead to some discovery of the genetic basis of autism.

If you or your child has a professional diagnosis of autism, you are eligible to participate in the SPARK research study!

Help Speed Up Autism Research: Join SPARK today!

What is SPARK?
SPARK is the largest autism research project in US history, seeking to create a cohort of 50,00 individuals diagnosed with ASD and their biological family members. The entire autism community is encouraged to participate! There is NO cost to take part in SPARK. The research is sponsored by the Simons Foundation Autism Research Initiative (SFARI). We hope that this will lead to more insights of autism in myotonic dystrophy

Our Goal:
Our goal is to build a community of 50,000 individuals with autism and their biological family members as we seek to speed up research and improve our understanding of autism — including learning what causes autism and how best to treat it. UCSD Autism Center of Excellence and over 25 of the nation’s leading medical schools and autism research centers are part of this effort. The entire autism community is encouraged to participate! There is NO cost to take part in SPARK.

What We Do:
SPARK researchers extract genetic data through a saliva sample, and they study genes and information collected from thousands of people and their biological parents. At the same time, we aim to make participation as simple as possible, create an interconnected community, and share resources and information to our participants! We hope you will join us! 

How to Join:

  1. Sign-up online: here. It only takes 20 minutes. 
    *If you are prompted with the question: Were you referred by a university, hospital, or registry? Please selectUCSD/SARRC
  2. Complete a few questionnaires online. 
  3. Provide a saliva sample. A saliva collection kit will be mailed to your home within 2-3 weeks after completing the registration. When you are done, simply mail it back to us for free. 

Benefits of Joining:

  1. If a genetic finding is discovered related to the cause of autism in a saliva sample, results will be shred back with families.
  2. Individuals with autism will receive gift cards valued up to $50 for participating.
  3. Families will have access to the latest research, articles, and monthly webinars featuring speakers from the autism community that provide useful information for families and diagnosed individuals.
  4. The information you provide will help others with ASD in the future!

If you have any questions or would like to schedule an in-home appointment to complete the study, please contact our SPARK coordinator at (858) 534-6906 or SPARKForAutism@ucsd.edu. 

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