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Patients can’t wait for the next breakthrough
in medical research.
So neither will we.
KAREN
Living with limb-girdle
muscular dystrophy
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 1
FALL 2020
Forward-looking statements
This presentation contains "forward-looking statements." Any statements that are not statements of historical fact may be deemed to be forward-looking statements. Words such as
“believe,” “anticipate,” “plan,” “expect,” “will,” “may,” “intend,” “prepare,” “look,” “potential,” “possible” and similar expressions are intended to identify forward-looking statements. These forward-
looking statements include statements relating to our opportunities in the rare disease space; potential solutions and market opportunities with our RNA technologies, gene therapy and gene editing;
our programs’ potential to treat 1.5M patients; the potential benefits of our technologies and scientific approaches, including the potential of RNA-targeted medicine to increase or decrease
production of a protein involved in a disease; Sarepta being poised to have 3 PMOs serving ~29% of the DMD community in 2021; the potential benefits of PMO and PPMO, including PPMO’s
potential to greatly increase cell penetration, lead to more efficient dosing and deliver to unique muscle types; the potential benefits of MHCK7, AAVrh74, SR2, SR3 and β-SARCOGLYCAN; the
potential of our LGMD portfolio to generate a steady stream of gene therapy candidates; our goal to identify 2 gene therapy product candidates per year; the potential benefits of iCELLis adherent
mammalian manufacturing technology; our forecast curve for gene therapy; our sustainable model for transformative gene therapies; having an access and reimbursement plan in 2021 and an
expected development horizon of 3.5 years; the potential of gene therapy’s applicability across disease; the potential of our collaborations and partnerships; and the estimated number of patients
suffering from DMD, LGMD, CMT and MPS IIIA.
These forward‐looking statements involve risks and uncertainties, many of which are beyond our control and are based on our current beliefs, expectations and assumptions
regarding our business. Actual results and financial condition could materially differ from those stated or implied by these forward‐looking statements as a result of such risks and uncertainties and
could materially and adversely affect our business, results of operations and trading price. Potential known risk factors include, among others, the following: we may not be able to comply with all
FDA post-approval commitments and requirements with respect to EXONDYS 51 and VYONDY 53 in a timely manner or at all; our data for our different programs may not be sufficient for obtaining
regulatory approval; our product candidates, including those with strategic partners, may not result in viable treatments suitable for commercialization due to a variety of reasons, including the
results of future research may not be consistent with past positive results or may fail to meet regulatory approval requirements for the safety and efficacy of product candidates; success in preclinical
testing and early clinical trials, especially if based on a small patient sample, does not ensure that later clinical trials will be successful; the expected benefits and opportunities related to our
agreements with our strategic partners may not be realized or may take longer to realize than expected due to a variety of reasons, including any inability of the parties to perform their commitments
and obligations under the agreements, challenges and uncertainties inherent in product research and development and manufacturing limitations; if the actual number of patients suffering from
DMD, LGMD, CMT and MPS IIIA is smaller than estimated, our revenue and ability to achieve profitability may be adversely affected; our dependence on our manufacturers to fulfill our needs for our
clinical trials and commercial supply, including any failure on our part to accurately anticipate product demand and timely secure manufacturing capacity to meet product demand, may impair the
availability of products to successfully support various programs, including research and development and the potential commercialization of our gene therapy product candidates; we may not be
able to successfully scale up manufacturing of our product candidates in sufficient quality and quantity or within sufficient timelines; current reimbursement models may not accommodate the unique
factors of our gene therapy product candidates; we may not be able to execute on our business plans and goals, including meeting our expected or planned regulatory milestones and timelines,
clinical development plans, and bringing our product candidates to market, for various reasons including possible limitations of our financial and other resources, manufacturing limitations that may
not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office and the COVID-19 pandemic; and
those risks identified under the heading “Risk Factors” in Sarepta’s most recent Annual Report on Form 10-K and most recent Quarterly Report on Form 10‐Q filed with the Securities and Exchange
Commission (SEC) and in its other SEC filings.
For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review Sarepta's filings with the SEC. We caution investors not to place considerable reliance
on the forward‐looking statements contained in this presentation. The forward‐looking statements in this presentation are made as of the date of this presentation only and, other than as required
under applicable law, Sarepta does not undertake any obligation to publicly update its forward‐looking statements.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 2
The opportunity to save lives
is breathtaking
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 3
7,000 Rare Diseases
~80% are single gene mutations
And only 5% of rare diseases currently have treatments
* https://ncats.nih.gov/trnd/projects/gene-therapy Accessed September 2019. ©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 4
400M
Rare diseases
30%
are responsible for
Rare disease patients w/w
35%
of deaths
of children
with a rare disease
50% in the first year of life* will never reach their
Children*
5th birthday*
..and the statistics sobering
EVERY DAY Duchenne takes the life of a child
*http://www.fromhopetocures.org/fighting-rare-diseases
• https://www.raregenomics.org/rare-disease-facts Accessed September 2019.
• https://www.who.int/medicines/areas/priority_medicines/Ch6_19Rare.pdf Accessed September 2019.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 5
The time is now for solutions
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 6
Sarepta is leading this revolution
Armed with the most advanced science in genetic medicine,
we are in a daily race to rescue lives otherwise stolen by rare disease.
At Sarepta, every day is another 24 hours to stand up for patients,
advance technology, challenge convention and drag tomorrow into today.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 7
A multi-platform approach to the problem
RNA GENE GENE
14 27 2
THERAPY EDITING
PROGRAMS PROGRAMS PROGRAMS
43 programs in all
Potential to treat 1.5M patients*
*Based on published epidemiology ©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 8
RNA engine
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 9
An elegant RNA precision genetic medicine approach
RNA Pre-mRNA mRNA Ribosome translates Protein is
Transcription spliced into leaves the mRNA and assembles transported to
begins mature mRNA nucleus the protein perform its function
1 2 3 4 5
SAREPTA’S RNA-TARGETED
THERAPEUTIC
RNA-targeted Medicine - Designed to increase or decrease production of a protein involved in a disease
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 10Proprietary PMO Technology
Phosphorodiamidate morpholino oligomer (PMO) Technology
Specificity: Enhanced affinity for targeting pre-mRNA for precise binding to the selected RNA target
Stability: Highly resistant to degradation by enzymes
Versatility: Ability to rapidly design and construct drug candidates that are specific for human or
pathogen RNA; and target specific tissues
Safety: Built upon a charge-neutral backbone, which may be reflected in tolerability
Exons
Protein
The PMO directs the splicing machinery to skip an exon when processing the pre-mRNA. As a result, the alternate
mRNA allows for the production of a shortened, functional dystrophin protein.
Kole R, Lepper BJ. Discovery Medicine, Volume 14, Number 74, July 2012
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 11Poised to have 3 PMOs serving the community in 2021
CASIMERSEN
(SRP-4045)
September 2016: December 2019: Mid-2020:
Approved to treat patients with a Approved to treat patients with a Submitted NDA
confirmed genetic mutation that confirmed genetic mutation that (8% of DMD population)
is amenable to exon 51 skipping is amenable to exon 53 skipping
(13% of DMD population)* (8% of DMD population)*
*Candidate received accelerated approval in the U.S., confirmatory studies required
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 12PPMO Next-Generation Technology
Peptide phosphorodiamidate morpholino oligomer (PPMO) Technology
Enhances PMO
• Conjugated peptide greatly increases
cell penetration
• Could potentially lead to more
efficient dosing for patients
• Able to deliver PMOs to unique
muscle types (e.g., heart)
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 13Gene therapy engine
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 14Critical components of Sarepta’s gene therapy engine
VECTOR
Must deliver the transgene
to target cells with minimal
immune response
PROMOTER
Drives expression in
intended tissues
TRANSGENE
Produces a functioning
version of the protein of
interest
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 15Sarepta’s gene therapy engine at work – Duchenne muscular dystrophy
EARLY CLINICAL RESULTS
ONE YEAR FUNCTIONAL RESULTS
MICRO-DYSTROPHIN GENE
MICRO-DYSTROPHIN GENE THERAPY FOR DMD
THERAPY FOR DMD*
VECTOR – AVERAGE CHANGE FROM BASELINE4***
81% 96%
AAVrh74
NSAA TIME TO RISE
5.5 .4
• Provides systemic delivery to muscle
cells, including the
heart and skeletal muscle
Expression of micro- Expression of
dystrophin in muscle
fibers1
micro-dystrophin measured
by signal intensity1
• Low level of pre-existing
immunity
PROMOTER POINT IMPROVEMENT SECOND IMPROVEMENT
MHCK7
• Optimized for desired
skeletal and cardiac
96% 67%
muscle expression levels
TRANSGENE • 120% expression in
cardiac muscle vs 4 STAIRS UP 100 M
1.3 9.1
MICRO-DYSTROPHIN skeletal muscle2
Reduction of
Expression of creatine kinase4 • Designed to generate a
micro-dystrophin at 1 year functional micro-dystrophin
measured by SECOND IMPROVEMENT SECOND IMPROVEMENT
• Includes SR2 and SR3 -
Western blot**,1
essential for muscle force3
1. Clinical Update: Micro-dystrophin Study-101 - March 25, 2019 - Micro-dystrophin Gene Therapy Update
Conference Call - Sarepta Therapeutics Data on File.
2. Potter et al. Functional and Histological Improvements Comparing 4 Micro-dystrophin Constructs in the mdx
Mouse Model of DMD. ASGCT 2019. ClinicalTrials.gov Identifier: NCT03375164
2. Potter et al. Functional and Histological Improvements Comparing 4 Micro-dystrophin Constructs in the mdx Sarepta Therapeutics Data on File
Mouse Model of DMD. AIM 2019.
3. Nelson DM, Ervasti JM, et al. Variable rescue of microtubule and physiological phenotypes in mdx muscle *Data from the 4 patients dosed in Study NCT03375164
expressing different miniaturized dystrophins. Human Molecular Genetics, 2018, Vol. 27, No. 12: 2090-2100. **NCH Western blot method
4. Mendell JR et al. Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With ***North Star Ambulatory Assessment (NSAA), Time to Rise, 4 Stairs Up, and 100M
Duchenne Muscular Dystrophy A Nonrandomized Control Trial. JAMA Neurol. doi:10.1001/jamaneurol.2020.1484.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 16
Micro-dystrophin is investigational and has not been FDA reviewed or approved.Sarepta’s Gene Therapy Engine at Work – Consistent Results with
β-sarcoglycan Gene Therapy in LGMD type 2E
COHORT 1 - 5x1013 vg/kg COHORT 2 - 2x1014 vg/kg
EXPRESSION AND 1 YEAR EXPRESSION AND PRELIMINARY
FUNCTIONAL RESULTS1 VECTOR CLINICAL RESULTS3
51% 47% 72% 73%
AAVrh74
Expression of
β-sarcoglycan in
Expression of
β-sarcoglycan measured PROMOTER Expression of
β-sarcoglycan in
Expression of
β-sarcoglycan measured
muscle fibers by signal intensity muscle fibers by signal intensity
MHCK7
62% 89%
All patients TRANSGENE
36% Expression of
improved in
all functional
endpoints
β-SARCOGLYCAN
Expression of
Reduction of
creatine kinase
β-sarcoglycan β-sarcoglycan
at 1 year2
measured by measured by
Western blot** Western blot**
*Data from the 3 patients dosed in Study NCT03652259
**NCH Western blot method
1. February 27, 2019, http://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-positive-and-robust-expression
2. October 4, 2019, http://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-positive-functional-results-srp
3. June 8, 2020, https://investorrelations.sarepta.com/news-releases/news-release-details/sarepta-therapeutics-announces-positive-expression-and
LGMD2E is investigational and has not been FDA reviewed or approved. ©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 17Gene therapy engine at work across LGMD portfolio
OPPORTUNITY TO GENERATE
A STEADY STREAM OF
GENE THERAPY CANDIDATES
LGMD2E
LGMD2D LGMD2B LGMD2C LGMD2L LGMD2A
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 18Sarepta’s gene therapy engine at work: now, and into the future
PROGRAM DISCOVERY PRECLINICAL CLINICAL COMMERCIAL
SRP-9001 Micro-dystrophin
GALGT2 Nationwide Children’s
Micro-dystrophin Genethon
SRP-9003 (LGMD2E β-sarcoglycan)
SRP-9004 (LGMD2D α-sarcoglycan)
SRP-9005 (LGMD2C γ-sarcoglycan)
SRP-6004 (LGMD2B Dysferlin)
SRP-9006 (LGMD2L Anoctamin 5)
Calpain 3 (LGMD2A) Nationwide Children’s
Neurotrophin 3 (CMT1A) Nationwide Children’s
LYS-SAF302 (MPS IIIA) Lysogene
Cardiomyopathy University of Florida
Pompe Disease Lacerta
CNS Lacerta
Multiple Sclerosis University of Florida
Rett Syndrome 1 University of Massachusetts
Rett Syndrome 2 StrideBio
Dravet Syndrome StrideBio
Angelman Syndrome StrideBio
Niemann-Pick Type C StrideBio
Four Muscle/CNS Targets StrideBio
Muscle/Cardiovascular Targets Dyno Therapeutics
Emery-Dreifuss muscular dystrophy Type 1 Columbia University
Duchenne Institute of Myology
2 TARGETS PER YEAR - NEW GENE THERAPY CENTER OF EXCELLENCE
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 19
All pipeline compounds are ongoing clinical trial investigation.Setting the standard in
gene therapy manufacturing
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 20Sarepta’s hybrid strategy - external thought leaders complement
our internal expertise
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 21Sarepta’s manufacturing expertise
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 22Advancing the gold standard in gene therapy manufacturing
A deliberate and strategic move to
iCELLis® adherent mammalian
iCELLis® adherent
mammalian
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 23Advancing the gold standard in gene therapy manufacturing
A deliberate and strategic move to
Benefits
iCELLis® adherent mammalian
• Mitigated Risk
• Increased Speed
• Expanded Scale
• Improved Cost
Efficiency
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 24Sarepta’s sustainable model for
one-time transformational therapies
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 25One-time gene therapy model vs. chronic therapy model
One-Time
Gene Only dose $
Therapy
Chronic $$$
Therapy Dose 1 Dose 2 Dose 3 Dose 4 Dose 5 Dose 6 Dose 7
LIFETIME THERAPY COSTS
For illustrative purposes
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 26Traditional drug development forecast curve
Chronic dosing model . . .
Q1 Q2 Q3 Q4 Q5 Q6 Q7 Q8 Q9 Q10 Q11 Q12 Q13 Q14 Q15 Q16 Q17 Q18 Q19 Q20
Product 1 Product 2 Product 3 Product 4 Product 5 Product 6 Product 7 Product 8 Product 9 Product 10
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 27Gene therapy forecast curve
One-time treatment model . . .
Q1 Q2 Q3 Q4 Q5 Q6 Q7 Q8 Q9 Q10 Q11 Q12 Q13 Q14 Q15 Q16 Q17 Q18 Q19 Q20
Product 1 Product 2 Product 3 Product 4 Product 5 Product 6 Product 7 Product 8 Product 9 Product 10
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 28Sarepta’s forecast curve
Creating a viable business model for gene therapy
Q1 Q2 Q3 Q4 Q5 Q6 Q7 Q8 Q9 Q10 Q11 Q12 Q13 Q14 Q15 Q16 Q17 Q18 Q19 Q20
Product 1 Product 2 Product 3 Product 4 Product 5 Product 6 Product 7 Product 8 Product 9 Product 10
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 29Sarepta’s sustainable model for transformative gene therapies
DISCOVERY ENGINE
Differentiated technologies
unmatched in biotech STEADY STREAM OF
GENE THERAPIES
3.5YEARS
(from discovery)
READY IN
2020
MANUFACTURING
The most manufacturing
capacity globally
FULFILL CLINICAL &
COMMERCIAL NEEDS
ACCESS AND READY IN
2021
REIMBURSEMENT
Working with key
stakeholders to bring
medicines to patients PATIENTS
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 30Establishing a distinct partnership model to drive future success
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 31A burgeoning pipeline
Today….
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 32Greater than 40 Programs in Development
DISCOVERY PRECLINICAL CLINICAL COMMERCIAL
RNA TECHNOLOGIES PMO
EXONDYS 51 (eteplirsen)* Duchenne
VYONDYS 53 (golodirsen)* Duchenne
Casimersen (SRP-4045) Duchenne
Exon 52 Duchenne
Other Exon Targets** Duchenne
RNA TECHNOLOGIES PPMO
SRP-5051 Duchenne
SRP-5053 Duchenne
SRP-5045 Duchenne
SRP-5052 Duchenne
SRP-5044 Duchenne
SRP-5050 Duchenne
*Candidate received accelerated approval in the U.S., confirmatory studies required
**Other exon targets in development: 43, 44, 50, and 55
Duchenne – Duchenne muscular dystrophy
33
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 33Greater than 40 Programs in Development
DISCOVERY PRECLINICAL CLINICAL COMMERCIAL
GENE THERAPY
SRP-9001 Micro-dystrophin Duchenne
GALGT-2 Nationwide Children’s Duchenne
Micro-dystrophin Genethon Duchenne
SRP-9003 (LGMD2E β-sarcoglycan) LGMD
SRP-9004 (LGMD2D α-sarcoglycan) LGMD
SRP-9005 (LGMD2C γ-sarcoglycan) LGMD
SRP-6004 (LGMD2B Dysferlin) LGMD
SRP-9006 (LGMD2L Anoctamin 5) LGMD
Calpain 3 (LGMD2A) Nationwide Children’s LGMD
Neurotrophin-3 (CMT 1A) Nationwide Children’s CMT
LYS-SAF302 (MPS IIIA) Lysogene MPS
Cardiomyopathy University of Florida CM
Duchenne
Duchenne – Duchenne muscular dystrophy LGMD – Limb-girdle muscular dystrophyDuchenne
CMT – Charcot-Marie-Tooth disease MPS – Mucopolysaccharidosis CNS – Central nervous system
34
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 34Greater than 40 Programs in Development
DISCOVERY PRECLINICAL CLINICAL COMMERCIAL
GENE THERAPY
Pompe Disease Lacerta Pompe
CNS Lacerta CNS
Multiple Sclerosis University of Florida MS
Rett Syndrome 1 University of Massachusetts Rett
Rett Syndrome 2 StrideBio Rett
Dravet Syndrome StrideBio Dravet
Angelman Syndrome StrideBio Angelman
Niemann-Pick Type C StrideBio Niemann-Pick
Four Muscle/CNS Targets StrideBio Muscle/CNS
Muscle/CV Targets Dyno Therapeutics Muscle/CV
Emery-Dreifuss MD Type 1 Columbia University EDMD
Duchenne Institute of Myology* Duchenne
GENE EDITING
CRISPR/CAS9 Duke University Duchenne
Duchenne Harvard University Duchenne
*GTx + PPMO CNS – Central nervous system CV – Cardiovascular Duchenne
MD – muscular dystrophy Duchenne – Duchenne muscular dystrophy
35
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 35Duchenne muscular dystrophy (DMD)
DMD is a rare, fatal neuromuscular genetic disease
INHERITANCE
DMD is inherited in an X-linked recessive pattern.1
Genetic Root of Disease One or more mutations in the gene
that codes for dystrophin3
SYMPTOMS
Muscle weakness becomes increasingly noticeable by age 3 to 5,
and most patients use a wheelchair by the time they are 11. During Missing Protein Dystrophin3
adolescence, cardiac and respiratory muscle deterioration lead to
serious, life-threatening complications.1,2
Cellular Alteration Instability of skeletal and cardiac muscle
cell membranes3
POPULATION
DMD affect approximately 1 in 3,500-5,000 males born
worldwide.3 Tissue Deterioration Muscle deterioration and replacement with
fatty and fibrotic tissue1
TREATMENT
Exon-skipping drugs are available for patients with certain Function Loss Typically loss of ambulation in early teens
dystrophin mutations, broadly applicable gene therapy in and progressive pulmonary and cardiac
development. complications leading to mortality in
late 20s2
1. Hoffman EP, Brown RH, et al. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919-928.
2. Passamano L, Taglia A, et al. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myologica. 2012;31(1): 121-125.
3. National Institutes of Health. Genetics Home Reference. Duchenne and Becker muscular dystrophy. https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy. Accessed May 2019.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 36Limb-girdle muscular dystrophy (LGMD)
INHERITANCE
The LGMDs are a group of genetically heterogeneous, autosomal Genetic Root of Disease Broad range of mutations in various genes
inherited (recessive more common than dominant) muscular responsible for protein production3
dystrophies with a childhood to adult onset. 1
Missing Proteins Depends on specific subtype, such as proteins
SYMPTOMS involved in the dystrophin associated protein
Individuals may first notice a problem when they begin to walk
with a “waddling” gait because of weakness of the hip and leg complex (DAPC), sarcolemma, dystroglycan
muscles. They may have trouble getting out of chairs, rising complex as well as intracellular proteins3
from a toilet seat or climbing stairs. As this weakness
progresses, the person may require the use of assistive
mobility devices.2 Cellular Alteration These critical proteins are responsible for
muscle function, regulation and repair2
POPULATION
Approximate global prevalence of LGMDs as a group is 1.63
per 100,000 (Prevalence estimates range from 0.56 to 5.75 Affected muscles Affects skeletal muscle and in some cases
per 100,000).1 Over 30 subtypes exist.3 Both genders are affects cardiac and/or diaphragm2,3
affected equally.2
TREATMENT
Function Loss Progressive weakness and wasting of hip or
No cause-specific treatment is available for any of the LGMD shoulder girdle muscles1; in some cases
subtypes. cardiac abnormalities and respiratory decline2
1. Liewluck T, Milone M, et al. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve. 2018;58(2):167-177.
2. Muscular Dystrophy Association. Limb-girdle muscular dystrophy (LGMD). https://www.mda.org/disease/limb-girdle-muscular-dystrophy. Accessed May 2019.
3. Murphy AP, Straub V. The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies. J Neuromuscular Diseases. 2015;2(s2):S7-S19. ©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 37Mucopolysaccharidosis type IIIA (MPS IIIA)
INHERITANCE
Autosomal recessive, neurodegenerative lysosomal storage disease
caused by mutations in the N-sulfoglucosamine sulfohydrolase (SGSH) Genetic Root of Disease Mutation in the SGSH gene5
gene, which encodes an enzyme called Heparan-N-sulfamidase
necessary for heparan sulfate (HS) recycling in cells.1,2
Deficient enzyme Heparan-N-sulfamidase6
SYMPTOMS
Signs and symptoms usually become apparent in early childhood
and include speech problems, developmental delays, challenging
Cellular Alteration Build up of HS in cells6
behaviors, extreme hyperactivity and poor sleep.3
Tissue Deterioration Neurodegeneration6
POPULATION
MPS IIIA has a worldwide incidence of up to 1.62 per
100,000 live births.4 Function Losses Significant cognitive impairment, loss of speech,
death within second decade of life3
TREATMENT
No approved product indicated to treat MPS IIIA.3
1. Heron B, Mikaeloff Y, et al. Incidence and Natural History of Mucopolysaccharidosis Type III in France and Comparison with United Kingdom and Greece. American Journal of Medical Genetics Part A. 2011; 155A(1):58-68..
2. National Institutes of Health. Genetics Home Reference. SGSH gene. https://ghr.nlm.nih.gov/gene/SGSH. Accessed May 2019.
3. National Institutes of Health. Genetic and Rare Diseases Information Center. Mucopolysaccharidosis type IIIA. https://rarediseases.info.nih.gov/diseases/7071/mucopolysaccharidosis-type-iiia. Accessed May 2019.
4. Zelei T, Csetneki K, et al. Epidemiology of Sanfilippo syndrome: results of a systematic literature review. Orphanet J of Rare Dis. 2018;13(1):53.
5. NIH. Genetics Home Reference. Mucopolysaccharidosis type III. https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii Accessed May 2019.
6. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4-12.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 38Charcot-Marie-Tooth (CMT) disease
Sarepta’s lead indication - CMT1A
INHERITANCE
CMT1A is an autosomal dominant disease resulting from the Genetic Root of Disease Duplication of PMP22 gene 1
duplication of the PMP22 gene.1
Protein Accumulation Aggresomes build up in the Schwann cell
SYMPTOMS impairing its ability to survive 4
CMT1A symptoms involve muscle wasting leading to foot drop,
balance difficulties and muscle weakness which can progress to
affect motor skills limiting ability to walk and use hands.2 Cellular Alteration Damage to Schwann cells leads to
demyelination 2
POPULATION
CMT is the most common inherited neuromuscular
disorder and affects approximately 1 in 3,300
Tissue Deterioration Lack of myelin coating leads to
individuals worldwide.3 degeneration of peripheral nerves 2
TREATMENT Function Loss Limited to no ability of the nerves to
No approved product indicated to treat CMT1A. communicate with their targets (muscles) 2
1. National Center for Advancing Translational Sciences. Genetic and Rare Disease Information Center. Charcot-Marie-Tooth disease type 1A. https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a. Accessed May 2019.
2. National Institute of Neurological Disorders and Stroke. Charcot-Marie-Tooth Disease Fact Sheet. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet. Accessed May 2019.
3. National Institutes of Health. Genetics Home Reference. Charcot-Marie-Tooth disease. https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed August 2019.
4. Niemann A, Berger P, Suter U. Pathomechanisms of Mutant Proteins in Charcot-Marie-Tooth Disease. NeuroMol Med. 2006; 8(1-2):217-242.
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 39Patients can’t wait so neither will we
©SAREPTA THERAPEUTICS, INC. 2020. ALL RIGHTS RESERVED. 40Dragging tomorrow into today
#DraggingTomorrowIntoToday
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