THIS IS FOR BASIC KNOWLEDGE OF NEIMANN PICK TYPE C DISEASE

1. SANGITA DEY
AN INSIGHT INTO THE MANAGEMENT OF
NIEMANN PICK TYPE C DISEASE

2. RARE DISEASE :
• THERE ARE OVER 300 MILLION PEOPLE
LIVING WITH ONE OR MORE OF OVER
6,000 IDENTIFIED RARE DISEASES
AROUND THE WORLD
• RARE DISEASES CURRENTLY AFFECT
3.5% - 5.9% OF THE WORLDWIDE
POPULATION
• 70% OF THOSE GENETIC RARE DISEASES
START IN CHILDHOOD.
CHARA
CTERS
NPC1 NPC2
Mutatio
n
probabil
ity
95% of
patients
Rest 5%
of
patients
Position
of Gene
Chromo
some
18q
Chromo
some
14q
Perinatal
lethality
(6.7%)
Early
infantile
(21.9%)
Late
infantile
(19.0%)
Juvenile
(20.0%)
Adult
(22.9%)
UNKNO
WN
(9.5%)
RELATIVE DISTRIBUTION OF NP-C
 NPD-C BELONGS TO LYSOSOMAL LIPID STORAGE
DISORDERS.
 THE MUTATIONS IN NPC 1 OR NPC 2 GENE IS THE CAUSE OF
NPC.
 THESE MUTATIONS ARE INHERITED AUTOSOMAL
RESESSIVELY AND CAUSE AN IMPAIRED INTRACELLULAR
TRANSPORT OF CHOLESTEROLS AND GLYCOSPHINGOLIPIDS.
 THUS PROGRESSIVE NEUROLOGICAL & DEVELOPEMENTAL
PROBLEM ARISES.
 NPC AFFECTS 1 OUT OF 1.2 TO 1.5 LAKH POPULATION.
 NP-C IS SUB ACUTE OR JUVENILE FORM USUALLY AFFECT
CHILDREN OF 4-7 YEARS.
AUTOSOMAL RECESSIVE INHERENTANCE PATTERN OF NP-C
WHAT IS NIEMAN PICK DISEASE TYPE C

3. NPC-1 GENE PRODUCES PROTEIN INVOLVED IN THE MOVEMENT OF CHOLESTEROL AND LIPIDS (CHOLESTEROL
EXPORTER)
NPC-2 GENE PRODUCES PROTEIN THAT BINDS AND TRANSPORTS CHOLESTEROL FROM INSIDE OF LYSOSOME TO
LYSOSOME MEMBRANE WHERE NPC1 PRESENT.
UNESTERIFIED
CHOLESTEROL
EARLY
ENDOSOME
LATE
ENDOSOME
WHEN NPC-1 OR NPC-2 IS MUTATED THAT IS DISEASED
ETIOLOGY OF NIEMANN PICK DISEASE TYPE C
LYSOSOME(
CHOLESTEROL
ACCUMULATED)
CELL
TOXICITY
INCREASED
CELL DEATH
SYMPTOMS PROGRESSION OF NIEMANN PICK DISEASE TYPE C
1
• PERINATALS(SHORT BEFORE AND AFTER BIRTH) -- JAUNDICE OR CHOLESTASIS ; HEPATOMEGALY , SPLEENOMEGALY
etc.
2
• EARLY CHILDHOOD ( UPTO 6 YEARS) -- CLUMSINESS,SEIZURES OR CATAPLEXY, DYSTONIA, CONCENTRATION PROBLEMS;
EYE PROBLEMS(VSGP); DIFFICULTY IN SWALLOWING, SLEEPLING,SPEAKING etc.
3
• IN JUVENILE AND ADULT PATIENTS(6 TO 15 AND ABOVE) PSYCHIATRIC DISORDERS AND THE RESPIRATORY FAILURE
LEADS TO THE DEATH OF THE PATIENT.

4. DIAGNOSIS OF NIEMANN PICK DISEASE TYPE C
PC:GOOGLE

5. EFFICACY AND SAFETY OF DRUG AIRMOCLOMOL
AND PLACEBO
. EFFECTIVENESS OF PLURIPOTENT STEM CELLS
FOR NEIMANN PICK
EFFICACY OF INTRAVENOUS
2- HYDROXYPROPYL- BETA- CYCLODEXTRIN
(HPβCD,VTS-270) IN NPC
BIOMARKER VALIDATIO FOR NPC;SAFETY &
EFFICACY OF N-ACETYL CYSTEINE
STUDY OF VORINOSTAT THERAPY IN NPC
SUCCESSFULL RESEARCHES TO
MANAGE NP-C
TREATMENTS OF NP-C DISEASE
MIGLUSTAT ( zavesca,
brazaves) is a small
Iminosugar molecule which
reversibly inhibits the
glycosphingolipid synthesis
Occupational
therapy,
Speech
therapy,
Physiotherapy
provided as
SUPPORTIVE
CARE.
SYMPTOMATIC TREATMENT
Gastrostomy tube(g-tube)
can be used, Anticholinergic
agents, Nocturnal sedatives,
and med to control Seizures,
Tremors etc.
ORGAN
TRANSPLANT
Tracheostomy
Liver
transplant has
been
attempted
with limited
success .

6. FUTURE ASPECTS OF RESEARCH
1.GENE THERAPY
2.ENZYME REPLACEMENT THERAPY
3.PLEURIPOTENT STEM CELL THERAPY
4.NEUROSTEROID REPLACEMENT.
5.CARCUMIN.
PREVENTION
1.CARRIER DETECTION TEST ,GENETIC COUNSELLING,GENETIC TESTING.
2.DRUGS THAT MAY CAUSE ATAXIA,ALCOHOL SHOULD BE AVOIDED.
3.IDENTIFICATION OF GENETIC DEFECTS IN THE DNA OF NPC PATIENTS.

7. REFERENCES:
1. GOOGLE,WIKIPEDIA,
2.www.slideshare.net
3.https://ghr.nlm.nih.gov/condition/niemann-pick-disease#diagnosis
4. https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-
information/
5. https://clinicaltrials.gov/ct2/results?cond=%22niemann-pick+disease%22
6. https://www.rarediseaseday.org/article/what-is-a-rare-disease
7.Early miglustat therapying infantile NPC Di rocco1,Dardis A, Madeo A ,Barone R, Fiumara
A.2012 July
ACKNOWLEDGEMENT:
UNIVERSITY GRANTS COMMISION