Let’s find
a cure for
Duchenne
Together
עמותת "אקסון" הינה עמותה אשר הוקמה ע"י זוג הורים לילד חולה דושן לאחר אבחון מוקדם של המחלה בגיל שנה וחצי החלו ההורים, בסיוע בני משפחה וחברים קרובים, לחקור אודות המחלה ובמצב המחקר הרפואי העוסק בה בארץ בעולם. מהר מאוד התבהרה התמונה - לצער כולם דושן התגלתה כמחלה חשוכת מרפא. העמותה פועלת כדי להשפיע בכל דרך על גורלו של הילד ולהעניק לו ולרבים כמוהו חיים טובים יותר
יחד נחזיר את הכוח לשרירים
The association was founded by the parents of a sick boy. After an early diagnosis of the disease at the age of 1.5, the parents, with the help of their family and close friends, began to research the disease and the state of the medical research related to it. The strong desire to influence the child’s fate in every possible way and to give him and many like him a better chance to live normal life led the parents to initiate the founding of the association
Let’s find
a cure for
Duchenne Together
עמותת "אקסון" הינה עמותה אשר הוקמה ע"י זוג הורים לילד חולה דושן לאחר אבחון מוקדם של המחלה בגיל שנה וחצי החלו ההורים, בסיוע בני משפחה וחברים קרובים, לחקור אודות המחלה ובמצב המחקר הרפואי העוסק בה בארץ בעולם. מהר מאוד התבהרה התמונה - לצער כולם דושן התגלתה כמחלה חשוכת מרפא. העמותה פועלת כדי להשפיע בכל דרך על גורלו של הילד ולהעניק לו ולרבים כמוהו חיים טובים יותר
יחד נחזיר את הכוח לשרירים
The association was founded by the parents of a sick boy. After an early diagnosis of the disease at the age of 1.5, the parents, with the help of their family and close friends, began to research the disease and the state of the medical research related to it. The strong desire to influence the child’s fate in every possible way and to give him and many like him a better chance to live normal life led the parents to initiate the founding of the association
WHAT IS DUCHENNE (DMD)?
Duchenne Muscular Dystrophy Is the most common and severe genetic disorder affecting children, especially males. Children in Duchenne suffer from various defects in the gene responsible for the production of dystrophin protein, which is essential for muscle cell building. As a result of impaired muscular dystrophin supply, the muscle structure is impaired so that weakened muscle cells suffer from a significant decrease in function and cause a gradual loss of motor capabilities. Initial signs of illness will usually appear around age 3, leading the sick child to wheelchair in the early years of his second decade. Most patients do not survive until the age of 30 due to heart or lung dysfunction.
WHAT IS DUCHENNE (DMD)?
Duchenne Muscular Dystrophy Is the most common and severe genetic disorder affecting children, especially males. Children in Duchenne suffer from various defects in the gene responsible for the production of dystrophin protein, which is essential for muscle cell building. As a result of impaired muscular dystrophin supply, the muscle structure is impaired so that weakened muscle cells suffer from a significant decrease in function and cause a gradual loss of motor capabilities. Initial signs of illness will usually appear around age 3, leading the sick child to wheelchair in the early years of his second decade. Most patients do not survive until the age of 30 due to heart or lung dysfunction.
WHAT WE ARE DOING
The association operates in Israel and other countries around the world and focuses on seeking and initiating innovative medical treatments and research to find a generic drug that will be a life-saving treatment for hundreds of thousands of children worldwide, regardless of the type of genetic disorder. As for today (2020), there are a number of initial drugs to treat Duchenne and Beker, these drugs have recently been granted by accelerated approval for commercial use by the American FDA, but these drugs address only a small percentage of Duchenne's children. This is due to the fact that the existing drugs provide a solution for only a limited number of genetic defects among a variety of hundreds of different defects that cause Duchenne & Beker.
אסטרטגיית פעולה
עבודה במודל Startup
שימוש במתודולוגיות עבודה מעולם ההייטק שיאפשרו התקדמות מהירה במינימום משאבים ובפוקוס מירבי
איסוף וניתוח מידע
שימוש בניתוח נתונים ובינה מלאכותית לשם מציאת התרופה או הטיפול שלא ניתן לאתר בניתוח מידע ידני
פיתוח רפואי
ייזום ומימון מחקרים רפואיים חדשים, שיתוף פעולה למימון מחקרים קיימות ותפעולם השותף בארץ ובעולם
STARATEGY
Startup mode of work
Using lean startup methodologies to increase time to solutions with maximum efficiency
Data Analytics & AI
Collecting anonymous data about Duchenne and analyze it to find treatment in new ways
Medical Research
Initiation and funding of new medical research, cooperate to fund and support existing research
שקיפות כספית מלאה
כעמותה שנוסדה למטרה מובהקת וברורה - למצוא מרפא למחלת הדושן, שקיפות כספית מלאה הינו ערך מרכזי של הארגון לבעלי העניין שלו - המשפחות, המתנדבים, והתורמים. אנו מאמינים, שזהו תנאי הכרחי לקיומה ולהצלחתה של העמותה למצוא תרופה במהירות המירבית
FULL FINANCIAL TRANSPARENCY
As a nonprofit organization which has founded with one goal - to find a cure for Duchenne, full financial transparency is a key value of the organization to its stakeholders, families, volunteers, and donors. We believe this is a prerequisite for the existence and success of the association to find the cure as soon as possible
MEDICAL RESEARCH
Clinical Research & Trials
Clinical trials evaluate the effectiveness and safety of medications or medical devices by monitoring their effects on large groups of people.
Clinical research trials may be conducted by government health agencies such as NIH, researchers affiliated with a hospital or university medical program, independent researchers, or private industry.
How to diagnose
A diagnosis of DMD is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including molecular genetic tests. If the genetic tests are not informative, surgical removal and microscopic examination (biopsy) of affected muscle tissue that may reveal characteristic changes to muscle fibers. Specialized blood tests (e.g. creatine kinase) that evaluate the presence and levels of certain proteins in muscle (immunohistochemistry) are also used.
Signs & Symptoms
In children with DMD, initial findings may include delays in reaching developmental milestones such as sitting or standing without assistance; toe walking; an unusual, waddling manner of walking (gait); difficulty climbing stairs or rising from a sitting position (Gower’s sign); and repeated falling. Toddlers and young children may seem awkward and clumsy and may exhibit abnormal enlargement of the calves due to scarring of muscles (pseudohypertrophy).
מחקר רפואי
מהו מחקר קליני
כיצד מאבחנים
לצורך האבחנה המדויקת, יש לבצע בדיקות ספציפיות על מנת לזהות את השינוי ב-DNA או את המוטציה הגנטית שגורמת לדושן. ייתכן שיהיה צורך בהתערבות של רופאים מומחים כדי לפענח את הבדיקות הללו, בחלק מהמקרים יהיה צורך בביופסיות שריר לאבחנת המחלה.
שלבי התפתחות המחלה
בשלב ההליכה המוקדם ייראו אצל הבנים את מה שנחשב לאחד הסימנים ”הקלאסיים“ של דושן – תמרון גאוור שפירושו שהילד צריך לתמוך בעצמו על ידי הנחת ידיו על ירכיו כשהוא מתרומם מהרצפה, וכן ייראו שהוא הולך במעין הליכת ברווז ו/או על קצות הבהונות. הוא יכול עדיין לעלות במדרגות, אך נוהג לעלות תוך עמידה בשתי כפות הרגליים על כל שלב של המדרגות.
השותפים שלנו לדרך
OUR PARTNERS
Support Exon
We will find a cure for Duchenne Together
Support Exon
We will find a cure for Duchenne Together
CONTACT US
Families, donors and volunteers Join us to find a cure for Dochenne&Beker
The association was founded by the parents of a sick boy. After an early diagnosis of the disease at the age of 1.5, the parents, with the help of their family and close friends, began to research the disease and the state of the medical research related to it. The strong desire to influence the child's fate in every possible way and to give him and many like him a better chance to live normal life led the parents to initiate the founding of the association
Let’s find a cure for
Duchenne Together
What is Duchenne (DMD)?
Duchenne Muscular Dystrophy Is the most common and severe genetic disorder affecting children, especially males. Children in Duchenne suffer from various defects in the gene responsible for the production of dystrophin protein, which is essential for muscle cell building. As a result of impaired muscular dystrophin supply, the muscle structure is impaired so that weakened muscle cells suffer from a significant decrease in function and cause a gradual loss of motor capabilities. Initial signs of illness will usually appear around age 3, leading the sick child to wheelchair in the early years of his second decade. Most patients do not survive until the age of 30 due to heart or lung dysfunction.
WHAT WE ARE DOING
The association operates in Israel and other countries around the world and focuses on seeking and initiating innovative medical treatments and research to find a generic drug that will be a life-saving treatment for hundreds of thousands of children worldwide, regardless of the type of genetic disorder. As for today (2020), there are a number of initial drugs to treat Duchenne and Beker, these drugs have recently been granted by accelerated approval for commercial use by the American FDA, but these drugs address only a small percentage of Duchenne's children. This is due to the fact that the existing drugs provide a solution for only a limited number of genetic defects among a variety of hundreds of different defects that cause Duchenne & Beker.
STARATEGY
Startup mode of work
Using lean startup methodologies to increase time to solutions with maximum efficiency
Data Analytics & AI
Collecting anonymous data about Duchenne and analyze it to find treatment in new ways
Medical Research
Initiation and funding of new medical research, cooperate to fund and support existing research
FULL FINANCIAL TRANSPARENCY
As a nonprofit organization which has founded with one goal - to find a cure for Duchenne, full financial transparency is a key value of the organization to its stakeholders, families, volunteers, and donors. We believe this is a prerequisite for the existence and success of the association to find the cure as soon as possible
Medical Research
Clinical Research & Trials
Clinical trials evaluate the effectiveness and safety of medications or medical devices by monitoring their effects on large groups of people.
Clinical research trials may be conducted by government health agencies such as NIH, researchers affiliated with a hospital or university medical program, independent researchers, or private industry.
How to diagnose
A diagnosis of DMD is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including molecular genetic tests. If the genetic tests are not informative, surgical removal and microscopic examination (biopsy) of affected muscle tissue that may reveal characteristic changes to muscle fibers. Specialized blood tests (e.g. creatine kinase) that evaluate the presence and levels of certain proteins in muscle (immunohistochemistry) are also used.
Signs & Symptoms
In children with DMD, initial findings may include delays in reaching developmental milestones such as sitting or standing without assistance; toe walking; an unusual, waddling manner of walking (gait); difficulty climbing stairs or rising from a sitting position (Gower’s sign); and repeated falling. Toddlers and young children may seem awkward and clumsy and may exhibit abnormal enlargement of the calves due to scarring of muscles (pseudohypertrophy).
Our Partners
Support Exon
We will find a cure for Duchenne Together
Contact Us
Families, donors and volunteers
Join us to find a cure for Dochenne&Beker