DRUG DELIVERY

SYSTEM
-- Rare
Rare Diseases
Diseases in
in the
the United
United States-
States-

PRIMASARI CAHYA
WARDHANI
M10522802
 TOP 5
RARE FOP ALCL
DISEASE Is a disorder in which
skeletal muscle and
A rare type of blood
cancer. It's more
S IN THE connective tissue,
such as tendons and
common in young
people, mostly boys. It
UNITED ligaments, are
gradually replaced by
doesn't run in families.

STATE?? FIBRODYSPLASI
FIBRODYSPLASI
bone (ossified)
ANAPLASTIC
ANAPLASTIC
A
A OSSIFICANS
OSSIFICANS
? PROGRESSIVA
LARGE
LARGE CELL
CELL
PROGRESSIVA LYMPHOMA
LYMPHOMA

PROGERIA
PROGERIA XERODERMA
XERODERMA PROTEUS
PROTEUS
SYNDROME
SYNDROME PIGMENTOSA
PIGMENTOSA SYNDROME
SYNDROME

HGPS XP PARTIAL
is a rare condition
characterized by
Is an inherited GIGANTISM
Characterized by
condition characterized excessive growth of a
dramatic, rapid aging
by an extreme part or portion of the
beginning in
sensitivity to ultraviolet body. The overgrowth
childhood.
(UV) rays from sunlight. usually asymmetric.
 LIFESPA
STATISTIC
N average
The
PPR Progeria isSvery lifespan is age
ROOG
GE rare. It is 13-14; death is
S
SYYN ER
RIIA
A
NDDR
RO reported to usually due to
OM
ME E occur in 1 in 4- heart attack or
HG 8 million stroke
is a PS
r
char are con newborns
a d
dram cterize ition worldwide
d
beg atic, ra by
in p
child ning in id aging
hoo
d.
SIGNS AND
CAUSE
nsin
SYMPTOMS
t a ti o
ORGANIZATI Mu
NA rse
h e L M p a
ON
Progeria Research
t
k i ng Lamin i cl
S
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(ma ca use t clav ony c
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Foundation, Inc. A)ge on- , la
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Website:http:// e
Abs d-base
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Bro osis
www.progeriaresearch.org proge
ri a n
Cya
The Progeria Research me
 FIBRODYSPLASIA
SIGNS
SIGNS AND
AND
OSSIFICANS PROGRESSIVA SYMPTOMS
SYMPTOMS
Treatment
There is currently no definitive
treatment. However, a brief course of m a lity the
ab n o r
high-dosecorticosteroids, such as
r st m e tatarsal
fi ebrae,
Prednisone,started within the first 24 e , v e r t
bon joint
hours of a flare-up, may help reduce i t a t i on
lim
the intense inflammation and o b i l i ty , short
m
tissueswelling seen in the early a ll u x , spinal
h
stages rigidity

CAUSE STATISTIC
ORGANIZATI a t ion
t S
a mu me
ON Fibrodysplasia Ossificans
International by he sa e
at t e in th bout 1 in
Progressiva Association e occurs in a
plac 1 gen 1,6 0 0,0 0 0 n ewborns
In 2015, phase 2 clinical trial of palovarotene in R 800 people
ACV nd is a nd a b ou t
adults is completed and enrollment of children a d in l e are known to
ages 6 to 14 years begins. r it e a world w id
Website:http://www.ifopa.org/ inhe tosom have FOP.
u t
UCSF Fibrodysplasia Ossificans Progressiva an a minan
do ner.
Clinic man
Website:
XERODERMA PIGMENTOSA
Is
Is aninheritedcondition
aninheritedcondition characterized
characterized by
by an
an extreme
extreme
DEFINITI
DEFINITI sensitivity
sensitivity to
to ultraviolet
ultraviolet (UV)
(UV) rays
rays from
from sunlight
sunlight (eyes
(eyes
ON
ON and
and areas
areas of
of skin
skin exposed
exposed toto the
the sun).
sun).

Protection
Protection from
from ultraviolet
ultraviolet light,
light, frequent
frequent skin
skin and
and eye
eye
TREATME
TREATME examinations,
examinations, prompt
prompt removal
removal of of canceroustissue,
canceroustissue,
NTS
NTS neurological
neurological examination,
examination, psychosocial
psychosocial care
care

STATIST In the United States and Europe, prevalence of XP is 1

ORGANIZATION STATIST
ICS in 1,000,000. In Japan, XP is much more common,
ICS
Xeroderma affecting 1 in 22,000.
Xeroderma
Pigmentosum
Pigmentosum XP is an autosomal recessive genetic disorder. Most genetic
Society,
Society, Inc.
Inc. 437
437 CAUS
CAUS diseases are determined by the status of the two copies of
Syndertown
Syndertown Road
Road
Craryville,
E
E a gene, one received from the father and one from the
Craryville, NY
NY 12521
12521
organized
mother.
organized inin 1995
1995 by
by
Caren
Caren and
and DanDan Mahar,
Mahar, Typically develop by the time a child is 2 years old
whose
whose youngest
youngest SIGNS
SIGNS By Approximate number of patients (when available) be
daughter,
daughter, Katie,
Katie, has
has AND
AND distinguished (with example signs and symptoms): Fatigue,
xeroderma
xeroderma SYMPTO EEG abnormality, Dry skin, Fever, Thin skin. hypo-pigmented
SYMPTO
ANAPLASTIC
(ALCL) is a rare type ofblood cancer. It's more
LARGE CELL common in young people, mostly boys. It
LYMPHOMA doesn't run in
ALCL can families.
show up in two ways:

01
In the skin, it's calledcutaneous ALCL. It usually
grows slowly.
In the lymph nodes and other organs (systemic
ALCL). It often spreads quickly.

Cause
Researchers don't know what causes ALCL, but
02 they do know it isn't inherited. To diagnose if
you have ALCL, doctors may take abiopsy
from aswollen lymph node
SIGNS AND SYMPTOMS
Often, the first sign of systemic ALCL is swelling in
03 the neck, armpit, or groin, where your legs meet the
trunk of your body. You may also have symptoms
like: Fatigue, fever, loss of appetite, night sweats,
and weight loss
TREATMENT depend by type of ALCL
For primary cutaneous ALCL, treatment may
04 include: Radiation, which uses high-energy rays
to kill cancer cells, surgery to remove the
tumors, chemotherapy, and inject stem cells
ANAPLASTIC LARGE CELL
LYMPHOMA
American
American Brain
Brain Tumor
Tumor The
The Leukemia
Leukemia &
& Cutaneous
Cutaneous Lymphoma
Lymphoma
Association
Association Lymphoma
Lymphoma Society
Society Foundation
Foundation

was the first and is the only
national advocacy organization
committed to funding brain
tumor research and providing
information and education on all
tumor types and all age groups
Website:http://www.abta.org
Since 1949 LLS has been on the
forefront of blood cancer advances
such as chemotherapies and stem PO Box 374
Birmingham, MI 48012
cell transplantation leading the way
to the targeted therapies and E-mail:info@clfoundation.org
immunotherapies that are saving Website:
thousands of lives today. Website: http://www.clfoundation.org/
www.lls.org
 PROTEUS Proteus syndrome is
caused by a change
SYNDROME
is characterized by (mutation) in the AKT1
gene. The mutated gene
excessive growth of a Definition Causes
part or portionof the makes an abnormal
body (usually protein. AKT1gene has a
asymmetric, which spelling error that causes
means it affects the right an abnormally active
and left sides of the body protein to be made in the
AFFECTED
differently). body
POPULATIONS
Approximately 200 patients
have been reported in the
Treatment medical literature and it
seems to affect people of
The resources below all ethnic and racial
provide information Populatio
Treatmen groups.
about treatment options n FOUNDATION
t
for this condition. PS
OF PS
Proteus Syndrome
SIGN AND SYMPTOMS Foundation
Some people withProteus syndromehave It was founded in 1992 by Barbara King,
neurological abnormalities, includingintellectual Mary Timmermann and myself, Kim
disability,seizures, and vision loss, as well as Hoag.
distinctive facial features. Others signs and The ultimate goal is to find treatments
symptoms: asymmetry thorax, scoliosis, kyphosis, to alleviate the symptoms of Proteus
 ORGANIZATION
FOR RARE
DISEASES IN THE
In the late 1970s and early 80s, coalition
became NORD and was instrument in theUS
Orphan Drug Act of 1983, which created
financial incentives for the development
of treatments for rare diseases.
Mission Statement
NORD, a 501(c)(3) organization, is a patient
advocacy organization dedicated to
individuals with rare diseases and the
organizations that serve them. NORD,
along with its more than 260 patient
organization members, is committed to the
identification, treatment, and cure of rare
disorders through programs of education,
advocacy, research, and patient services.
Founded in 1887, the National Institutes of
Health today is one of the world's foremost
medical research centers, and the Federal
focal point for medical research in the United
States. The NIH, comprising 27 separate
Institutes and Centers, is one of eight health
agencies of the Public Health Service which,
in turn, is part of the U.S. Department of
The main campus of the National
Health and Human Services.
Institutes of Health (NIH) is
located in Bethesda, Maryland.
Our main mailing address is:
National Institutes of Health
Building 1 1 Center Drive,
Bethesda, Maryland 20892
THANK YOU