CENTOGENE N.V. (Nasdaq: CNTG) (the “Company”), the essential life
science partner for data-driven answers in rare and
neurodegenerative diseases, today announced the publication of a
landmark study titled, “At a glance: the largest Niemann-Pick type
C1 cohort with 602 patients diagnosed over 15 years.” Recently
published in the European Journal of Human Genetics, one of the
world's leading medical genetic journals, the study represents the
largest and most heterogeneous Niemann-Pick type C1 disease (NPC1)
cohort, with 602 patients referred from 47 countries.
NPC1 is a rare and severe autosomal recessive disorder,
characterized by a range of neurovisceral clinical manifestations
and a fatal outcome with no effective treatment to date. To gain a
deeper understanding of the disease, researchers carried out an
analysis using the CENTOGENE Biodatabank, which included clinical,
genetic, and biomarker data from NPC1 patients from the past 15
years. The study's findings reveal groundbreaking insights into the
clinical and metabolic patterns of NPC1.
“The publication of this landmark study marks a pivotal moment
in our understanding of Niemann-Pick type C1 disease patients,”
said Professor Peter Bauer, CENTOGENE’s Chief Medical and Genomic
Officer. “We believe that data enables us to better understand a
disease with very diverse symptoms and clinical courses, and this
study puts us on the right path to identifying potential
therapeutic strategies with pharma partners.”
The analysis of the data captured in the CENTOGENE Biodatabank
revealed 287 unique Pathogenic/Likely Pathogenic (P/LP) variants,
with 73 having not been described previously. Additionally,
researchers identified variant-linked patterns of symptoms and
manifestations by leveraging Human Phenotype Ontology (HPO) terms.
Furthermore, these results suggest that in addition to its utility
to classify and report variants, the biomarker
N-palmitoyl-O-phosphocholineserine ((PPCS), formerly known as
lyso-SM-509), might serve to indicate disease severity/progression.
In analyzing the data, CENTOGENE was able to establish novel
genotype-phenotype relationships and illustrate the value of
combined genetic and biomarker testing to diagnose and increase the
understanding of NPC1.
“The study results are a perfect reflection of the significance
of data and establishing a holistic diagnosis,” adds Dr. Aida
Bertoli-Avella, Head of Research Data Analysis at CENTOGENE. “By
assembling the world's largest NPC1 cohort, we have gained
unprecedented insights that will fuel further research, clinical
development, and ultimately, improved patient outcomes.”
To read the full study, visit:
https://link.centogene.com/npc1-publication
About the Study
The genetic diagnosis of the 602 patients from 47 countries was
established using a combination of genetic and biomarker testing,
alongside Human Phenotype Ontology (HPO) terms. In doing so,
CENTOGENE confirmed the high allelic heterogeneity of NPC1 with 287
unique Pathogenic/Likely Pathogenic (P/LP) variants being
identified. Seventy-three of these were novel, unpublished causative
variants. This high number of novel variants is likely due to the
inclusion of patients from populations that are usually
underrepresented in scientific literature and public genetic
databases, such as Africa, the Middle East, and Latin America.
To date, this is the largest dataset described for NPC1, with
other large cohorts including a study from the United Kingdom that
describes 114 patients, a study from the International Niemann-Pick
Disease Registry (INPDR) describing 97 patients having NPC1
variants, and a study describing 105 NPC1 patients from Italy.
To read more about the study published in the European Journal
of Human Genetics, visit:
https://link.centogene.com/npc1-publication
About CENTOGENE
CENTOGENE’s mission is to provide data-driven, life-changing
answers to patients, physicians, and pharma companies for rare and
neurodegenerative diseases. We integrate multiomic technologies
with the CENTOGENE Biodatabank – providing dimensional analysis to
guide the next generation of precision medicine. Our unique
approach enables rapid and reliable diagnosis for patients,
supports a more precise physician understanding of disease states,
and accelerates and de-risks targeted pharma drug discovery,
development, and commercialization.
Since our founding in 2006, CENTOGENE has been offering rapid
and reliable diagnosis – building a network of approximately 30,000
active physicians. Our ISO, CAP, and CLIA certified multiomic
reference laboratories in Germany utilize Phenomic, Genomic,
Transcriptomic, Epigenomic, Proteomic, and Metabolomic datasets.
This data is captured in our CENTOGENE Biodatabank, with over
750,000 patients represented from over 120 highly diverse
countries, over 70% of whom are of non-European descent. To date,
the CENTOGENE Biodatabank has contributed to generating novel
insights for more than 275 peer- reviewed publications.
By translating our data and expertise into tangible insights, we
have supported over 50 collaborations with pharma partners.
Together, we accelerate and de-risk drug discovery, development,
and commercialization in target and drug screening, clinical
development, market access and expansion, as well as offering
CENTOGENE Biodata Licenses and Insight Reports to enable a world
healed of all rare and neurodegenerative diseases.
To discover more about our products, pipeline, and
patient-driven purpose, visit www.centogene.com and follow us
on LinkedIn.
Forward-Looking Statements
This press release contains “forward-looking statements” within
the meaning of the U.S. federal securities laws. Statements
contained herein that are not clearly historical in nature are
forward-looking, and the words “anticipate,” “believe,”
“continues,” “expect,” “estimate,” “intend,” “project,” “plan,” “is
designed to,” “potential,” “predict,” “objective” and similar
expressions and future or conditional verbs such as “will,”
“would,” “should,” “could,” “might,” “can,” and “may,” or the
negative of these are generally intended to identify
forward-looking statements. Such forward-looking statements involve
known and unknown risks, uncertainties, and other important factors
that may cause CENTOGENE’s actual results, performance, or
achievements to be materially different from any future results,
performance, or achievements expressed or implied by the forward-
looking statements. Such risks and uncertainties include, among
others, negative economic and geopolitical conditions and
instability and volatility in the worldwide financial markets,
possible changes in current and proposed legislation, regulations
and governmental policies, pressures from increasing competition
and consolidation in our industry, the expense and uncertainty of
regulatory approval, including from the U.S. Food and Drug
Administration, our reliance on third parties and collaboration
partners, including our ability to manage growth, execute our
business strategy and enter into new client relationships, our
dependency on the rare disease industry, our ability to manage
international expansion, our reliance on key personnel, our
reliance on intellectual property protection, fluctuations of our
operating results due to the effect of exchange rates, our ability
to streamline cash usage, our continued ongoing compliance with
covenants linked to financial instruments, our requirement for
additional financing and our ability to continue as a going
concern, or other factors. For further information on the risks and
uncertainties that could cause actual results to differ from those
expressed in these forward-looking statements, as well as risks
relating to CENTOGENE’s business in general, see CENTOGENE’s risk
factors set forth in CENTOGENE’s Form 20-F filed on May 16, 2023,
with the Securities and Exchange Commission (the “SEC”) and
subsequent filings with the SEC. Any forward- looking statements
contained in this press release speak only as of the date hereof,
and CENTOGENE’s specifically disclaims any obligation to update any
forward-looking statement, whether as a result of new information,
future events, or otherwise.
CONTACT
CENTOGENE
Melissa HallCorporate Communications Press@centogene.com
Lennart StreibelInvestor Relations IR@centogene.com
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