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(דומעה שארב תועיפומ םורופב תונורחאה תועדוהה)

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(22:39 20/05/06) ג ןלוג FSHDעקר לע תושישת

(09:00 28/05/06) קחציו הליא FSHD עקר לע תושישת

(10:23 28/05/06) רנורב ילינ FSHD

(22:17 20/05/06) קחציו הליא ונילא העיגה אל ךתעדוה םרויל

(22:52 29/04/06) ואתפ יששו יתא ירוחא ןוכילה

(23:10 24/04/06) יול ילג fshd

(07:59 28/04/06) קחציו הליא םיחמומל תולאש

(22:47 23/04/06) הרמכ השנמ תונומסת- ןויע םוי

(19:02 05/04/06) ןהכ תליג החמומל וא םורופל הלאש

(07:56 18/04/06) קחציו הליא איגש ילט .פורפ תבושת

:איגש ילט .פורפ לש התבושת תא איבהל םיחמש ונחנא
SMA-ל הליבקמה הלחמ איהש ALS םע םילוחב הסונ ןיטינרקליטצא
תואצותה .ירוטומה ןוריונה לש יביסרגורפ ןוונ הב שיו םירגובמב
.םילוחה בצמב יתועמשמ רופיש וארה אל
הצמוח םע ילופיטה לוקוטורפהמ קלחכ SMA ילוחל ןתינ ןיטינרק
תודובע שיש תורמל ליעיכ חכוה אל דבל ןיטינרק .תיאורפלו
לפטל ץלמומ . SMA ילוחב המישנה תרשרש דוקפתב הערפה לע תוארמה
.:ילק דרציר פורפ תויחנהל םאתהב
,הכרבב
איגש ילט פורפ
םידלי היגולוריונל הדיחיה תלהנמ
ןוספלוו יאופר זכרמ
Diet for SMA

Tolerex, but such an effect is not proven. Richard Kelley.
stronger when given elemental formulas, such as Neocate or
experimental. Many parents believe their SMA children are
the treatment of SMA, but these should still be viewed as
as glutamine and arginine, which may indeed have a role in
as a few informal trials with amino acid supplements, such
decubiti. There has also been some discussion as well
excess adipose tissue to provide a better cushion against
the other hand, less active SMA children benefit from some
look at least somewhat skinny may be "overweight" On
to 2 SD below that of length. A child with SMA who doesn't
weight in standard deviations from the mean should be 1
fat thickness is a better gauge. In general, the
below the 3rd centile of weight for height. Subcutaneous
to SMA. The well-nourished child with SMA often is at or
percentiles are almost meaningless when applied
the appearance of failure-to-thrive. 5. Weight-for-height
associated with linear growth giving a static weight and
in the acute phase occasionally may equal weight gain
infants with SMA, the process of neurogenic muscle wasting
individualized to give a normal rate of weight gain. For
weight, often 20 to 30% lower or more. K cal/kg must be
kg body weight are much lower than predicted by age and
of the muscle that remains, caloric requirements per
rate per gm of tissue, and because of the underutilization
of the loss of muscle, which has a very high metabolic
3-5% of calories as essential fatty acids. 4. Because
that the muscle mass is reduced, allowing for the required
should be reduced more or less in proportion to the degree
and ketogenic diets), the amount of fat in the diet
dietary fat is metabolized by muscle (except with fasting
that fat is the preferred fuel of muscle, and because most
the cyclic vomiting that is common in SMA. 3. In
these principles of protein nutrition often eliminates
in the immediate postprandial period. Following
amino acid levels can become toxic (e.g., arrhythmias)
have been given to SMA children, but the resulting higher
feedings are given. Much greater amounts of protein
should be generous (1.5 to 2 g/kg/d), but only if frequent
and muscle protein catabolism. Overall protein intake
at bedtime (0.5-1g/kg) to limit overnight fasting
for more than 8 hours at night, should be given cornstarch
protein-containing snacks during the day and, if sleeping
children with SMA should have more frequent meals or
a meal in a child with normal musculature. Therefore,
levels that are not reached until 8 hours after
fall in just 4 hours after a meal to the same "catabolic"
fasting, the plasma amino acid levels in children with SMA
wins out and progressive muscle wasting occurs. 2. During
competition between these two phenomena, catabolism often
to supply amino acids for gluconeogenesis. In the
of body muscle of an SMA child must be catabolized
to "store" protein. During fasting, a larger fraction
liver and other tissues that have a more limited ability
larger amounts of amino acids are catabolized by
acids for conversion into protein, so that relatively
limits the systemic ability to take up diet-derived amino
acids. Following a meal, the reduced muscle mass in SMA
the liver also is the site of much net catabolism of amino
Liver also can "store" protein in this manner, but
and net loss of muscle protein during fasting periods.
with net uptake of amino acids in postprandial periods
release of amino acids to plasma--is a continuous process
1. Muscle protein turnover--with simultaneous uptake and
effects on overall nutrition in children with SMA.
reduced sìze of this amino acid reservoir has important
for protein synthesis and gluconeogenesis, the greatly
when needed, supplies substrate to the rest of the body
is the most important nutritional reserve in the body and,
with markedly reduced muscle mass. That is, because muscle
in most respects is no different from that of any child
as a percentage of calories, the dietary management of SMA
certain dietary practices, such as limitation of fat
the fatty acid handling problem of SMA itself recommends
is perhaps greater in muscle than it is in liver. Although
which indicates that the impaired fatty acid metabolism
sufficiently fasted can mount a moderately good ketosis,
these abnormalities, most older children with SMA when
in fatty acid catabolism probably precedes CPT-l. Despite
fatty acid and acylcamitine levels, this apparent block
acid uptake by mitochondria. Based on studies of plasma
acid profiles that indicate a relative block in fatty
reduced ketogenesis plus abnormalities in their free fatty
(both "acute" infantile and chronic forms) appear to have
in children or CPT deficiency in adults. Children with SMA
such as MCAD deficiency or LCHAD deficiency
they do in primary defects of fatty acid beta-oxidation,
do not rise to the same level of clinical significance as
atrophy, Ann Neurol 1999; 45: 337-343), the abnormalities
fatty acid metabolism in childhood spinal muscular
fatty acid metabolism in SMA (see Crawford et al. Abnormal
Although there are some distinct abnormalities of

רשק רוצ

העדוה ספדה הכנת ההודעה להדפסה

רבחל חלש

הבוגת

:תויורשפא

(08:06 18/04/06) קחציו הליא איגש .פורפ תבושת

(00:17 16/04/06) הרמכ השנמ רדיינש זכרמב ההושש ימ תעידיל

(23:42 12/04/06) רמידרוג הנלסור חמש ביבא גח

(18:25 04/04/06) ןהכ תליג ןיטנרק לא ליטצא

(09:09 09/04/06) קחציו הליא S.M.A.

(09:58 26/03/06) "ןילא" ח"יב לכימ םייאמצע םימשנומל ןגומ רויד ךרעמב חותפ םוי

(13:51 09/03/06) םחנמ הנד fsh

(19:52 13/03/06) רנורב ילינ FSH יזכרמ

(07:08 06/03/06) קחציו הליא ןולויט

(11:03 26/02/06) קחציו הליא ןולויטל השקב

(21:10 10/01/06) ואתפ יתא ןוזמ יפסות

(12:55 22/01/06) ילינ ילינ וננויסנמ

(09:58 22/01/06) ןורבל ןסינ םויה רדסל תועצהו ותובישח - יתנש סנכ

ד"נעל ,יתנשה סנכה ןויער תא התלעה התומעה תלהנה ,םירקי םירבח
- אוהו ונלוכל ףתושמה ןיינעה םודיקל הבר תובישח הז סנכב שי
.הזל רושקש המ לכו לארשיב בצעו רירש תולחמב לופיטה םודיק
ליעפ תויהל לוכי אלש ימ םגו ,המכ יפ םצעתי ונחוכ דחיב לעפנ םא
ןיב תורכיהל תונמדזה וז ירה סנכב עיפוי םא ,הנשה ךשמב התומעב
אשונהש םישנא לש לודג רוביצ שיש ךכל קזח יוטיב ןתמו ,םלוכ
.םהל בושח
הבושח הרטמ ,סנכה ךלהמב םיינטרפ םיאשונ תאלעהל רבעמ תאזו
.המצעלשכ
םיאשונל תועצה הז םורופב הלענש עיצמ ינא
תא עיבהל דחא לכל סנכב תורשפא ןתניתש שקבנו ,סנכב ולעויש
שיגהל ילוא ןתינ .ונתושרל דומעיש ןמזה תרגסמב ןבומכ ,ותעד
,טוריפ םע ,ןוידל םיאשונ לע סנכה ינגראמל בתכב תועצה שארמ
תושעל לוכי הפ לעב תונויער תולעהל ךירצש בשוחש ימ ךשמהבו
.תאז
הארנ ךא ,םירעובה םיאשונה לכל עדומ יניא "ליחתמ" הרוה רותב
,ונייניעב רתויב בושחה םרוגה אוה יאופרה לופיטה אשונש ןויכש
תויוכזו םיינוגרא םיניינעל קר אלו סנכב דבכנ םוקמ ול תתל שי
ינש דצמ לבא םיאפורה לש םוחתל סנכינש יתנווכ ןיא .תודסומ לומ
המכ דע ,םלועבו ץראב םוחתב השענה רחא בטיה בוקעל ונתבוח
רופישלו תוחתפתהל ונא ףא םורתל לכונ יאדובו ,תעגמ ונדיש
.יאופרה םוחתב
.תונויער דוע תולעהל ןמזומ רוביצה

רשק רוצ

העדוה ספדה הכנת ההודעה להדפסה

רבחל חלש

הבוגת

:תויורשפא

(07:29 10/01/06) קחציו הליא אריפש .פורפ תבושת

(14:21 23/12/05) ל לבוי םורופל הלאש

(09:27 26/12/05) קחציו הליא םירירש ןווינ ילוחל םינוגרא

(12:55 25/12/05) קחציו הליא הכונח תביסמ

(08:42 23/12/05) איבל תילג םילגלגה תיבל המורת - הנהמ ברע

(12:10 18/12/05) קחציו הליא םיריעצ תצובק תונגראתה

(20:48 14/12/05) e ofer p.t.c. 124

PTC124 Trial Now Open to Boys With Duchenne
Muscular Dystrophy Who Have Nonsense Mutations

A clinical trial to test the effects of a laboratory-engineered compound called PTC124 is now open to boys with Duchenne muscular dystrophy (DMD). Prospective participants must be at least 5 years old, be able to walk, have a "nonsense" mutation (also known as a "premature stop codon") in the gene for the dystrophin protein, and meet other study criteria, according to PTC Therapeutics Inc., a biotechnology company in South Plainfield, N.J.

The company developed PTC124 as a synthetic compound designed to allow muscle cells to ignore certain DMD-causing mutations in the dystrophin gene. MDA awarded a research grant of $1.5 million to PTC Therapeutics through its translational research program for the compound's development. A phase 1 trial of PTC124 in healthy subjects has shown that oral PTC124 is safe and well tolerated.

Nonsense mutations prematurely end the synthesis of a protein — in this case dystrophin — leading to a small, nonfunctional protein that can't perform its cellular role.

It's been estimated that some 15 percent of boys with DMD have nonsense mutations as the underlying cause of their disease. Prospective participants in the PTC124 trial can find out whether they have a nonsense mutation through special DNA testing using blood cells conducted by the University of Utah in Salt Lake City.

For more information about this specialized testing, see University of Utah Duchenne Muscular Dystrophy Deletion and Mutation Screening. Or call Karin Dent, genetic counselor at the University of Utah, at (801) 581-6956.

Testing costs range from $400 to $1,175, but free testing can be conducted if the family is participating in the Utah Dystrophinopathy Project.

The locations for the PTC124 trial are Cincinnati Children's Hospital Medical Center; Children's Hospital of Philadelphia; and the University of Utah.

As of December 2005, only the Cincinnati Children's Hospital Medical Center is open for recruitment. Pending approval from the appropriate review committees, it is expected that the other sites will open in the next few weeks.

For further information, go to the MDA Web site's Clinical Trials and Studies and enter "Duchenne" into the disease name box; or goto www.clinicaltrials.gov and enter "PTC124" in the search box.

You can also contact Kerri Donnelly at PTC Therapeutics, (908) 222-7000, ext 112, or kdonnelly@ptcbio.com.

###

רשק רוצ

העדוה ספדה הכנת ההודעה להדפסה

רבחל חלש

הבוגת

:תויורשפא

(20:41 14/12/05) א רפוע p.t.c 124

PTC124 Trial Now Open to Boys With Duchenne
Muscular Dystrophy Who Have Nonsense Mutations

Inc., a biotechnology company in South Plainfield, N.J.
meet other study criteria, according to PTC Therapeutics
stop codon") in the gene for the dystrophin protein, and
have a "nonsense" mutation (also known as a "premature
must be at least 5 years old, be able to walk,
muscular dystrophy (DMD). Prospective participants
compound called PTC124 is now open to boys with Duchenne
trial to test the effects of a laboratory-engineered
A clinical

has shown that oral PTC124 is safe and well tolerated.
development. A phase 1 trial of PTC124 in healthy subjects
its translational research program for the compound's
research grant of $1.5 million to PTC Therapeutics through
mutations in the dystrophin gene. MDA awarded a
to allow muscle cells to ignore certain DMD-causing
company developed PTC124 as a synthetic compound designed
The

protein that can't perform its cellular role.
case dystrophin — leading to a small, nonfunctional
prematurely end the synthesis of a protein — in this
Nonsense mutations

conducted by the University of Utah in Salt Lake City.
mutation through special DNA testing using blood cells
the PTC124 trial can find out whether they have a nonsense
cause of their disease. Prospective participants in
of boys with DMD have nonsense mutations as the underlying
It's been estimated that some 15 percent

counselor at the University of Utah, at (801) 581-6956.
and Mutation Screening. Or call Karin Dent, genetic
University of Utah Duchenne Muscular Dystrophy Deletion
For more information about this specialized testing, see

is participating in the Utah Dystrophinopathy Project.
to $1,175, but free testing can be conducted if the family
Testing costs range from $400

Hospital of Philadelphia; and the University of Utah.
Cincinnati Children's Hospital Medical Center; Children's
The locations for the PTC124 trial are

that the other sites will open in the next few weeks.
from the appropriate review committees, it is expected
Medical Center is open for recruitment. Pending approval
of December 2005, only the Cincinnati Children's Hospital
As

and enter "PTC124" in the search box.
into the disease name box; or goto www.clinicaltrials.gov
site's Clinical Trials and Studies and enter "Duchenne"
For further information, go to the MDA Web

(908) 222-7000, ext 112, or kdonnelly@ptcbio.com.
You can also contact Kerri Donnelly at PTC Therapeutics,

###

רשק רוצ

העדוה ספדה הכנת ההודעה להדפסה

רבחל חלש

הבוגת

:תויורשפא

(16:19 06/12/05) ירפ לחר לוחמ עפומ "תעגל קר"

(14:10 04/12/05) קחציו הליא תיללכ הפיסאו םיירק באוי םע שגפמ

(17:47 01/12/05) ןהכ הרפוע יאופר קית לש הרבעה

(14:07 04/12/05) קחציו הליא ובנ .רדל יאופר קית תרבעה

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