INZY Inozyme Pharma Inc.
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INZ-701
ABCC6 deficiency
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Phase 1/2
Phase 1/2
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INZ-701
ENPP1 deficiency
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Phase 1/2
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BOSTON, May 07, 2021 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (NASDAQ:INZY), a rare disease biopharmaceutical company developing novel therapeutics for the treatment of abnormal mineralization, today presented preclinical data suggesting the utility of its lead clinical development candidate, INZ-701, as a potential treatment for ABCC6 Deficiency. The data, presented at the virtual European Calcified Tissue Society Annual Congress (ECTS, May 6-8), are the first to show that an enzyme replacement therapy (ERT) increased plasma pyrophosphate (PPi) levels and reduced calcification in an animal model of ABCC6 Deficiency.
ABCC6 Deficiency is a rare, inherited disorder that can present as generalized arterial calcification of infancy (GACI) type 2 in infants and as pseudoxanthoma elasticum (PXE) in children and adults. This is one of several disorders with significant decrease in plasma PPi levels, a potent regulator of mineralization. In patients with ABCC6 Deficiency, the abnormal calcification caused by low PPi can result in vision loss and life-threatening cardiovascular complications, among other morbidities. There is no approved treatment for ABCC6 Deficiency.
"In patients with ABCC6 Deficiency, the reduced levels of PPi that lead to pathological mineralization suggest an overlap between ENPP1 and ABCC6 Deficiencies," explained Yves Sabbagh, Ph.D., Senior Vice President and Chief Scientific Officer of Inozyme Pharma. "This supports the rationale for an enzyme replacement therapy aimed at raising PPi to treat these serious genetic disorders. The data show that INZ-701 increased plasma PPi levels and prevented abnormal calcification in an ABCC6-deficient mouse model, demonstrating its potential for treating patients with PXE, a chronic form of ABCC6 Deficiency with no approved therapeutic options."
This study was performed in collaboration with Thomas Jefferson University. Subcutaneous administration of INZ-701 (2 and 10 mg/kg every other day for two or eight weeks) was initiated in ABCC6-deficient mice at five to six weeks of age, the time where initiation of ectopic mineralization in this model is observed. INZ-701 led to a dose-dependent increase in plasma PPi levels at both two and eight weeks after initiation of treatment, leading to significantly lower levels of soft tissue mineralization. Histopathologic examination of tissue biopsies from vehicle-treated mice revealed extensive mineralization in the muzzle skin containing vibrissae, a biomarker of the mineralization process in this model. Compared to vehicle-treated mice, a quantitative calcium assay demonstrated that the amount of calcium in muzzle skin biopsies was reduced by 68% and 74% in mice receiving INZ-701 at dose levels of 2 and 10 mg/kg, respectively (p < 0.01).
"It is encouraging to see an ENPP1 enzyme replacement having an effect on tissue calcification in this PXE animal model. The patients suffering from this disease currently have no treatment options and collaborating with Inozyme to use our in-house expertise on this disease with their drug discovery efforts is exciting," said Jouni Uitto, M.D., Ph.D., Professor and Chair of Dermatology and Cutaneous Biology, and Biochemistry and Molecular Biology, at Thomas Jefferson University. "This study will help Inozyme further characterize the therapeutic potential of INZ-701 in PXE and other manifestations of ABCC6 Deficiency, which may offer hope to patient communities that have been waiting many years for a viable treatment option."
About ABCC6 Deficiency and Pseudoxanthoma Elasticum (PXE)
ABCC6 Deficiency is a rare, inherited disorder caused by mutations in the ABCC6 gene, resulting in decreased or absent activity of the ABCC6 protein. A systemic and progressively debilitating condition estimated to affect more than 67,000 individuals worldwide, ABCC6 Deficiency leads to low levels of pyrophosphate (PPi) and is associated with pathological mineralization in blood vessels and soft tissues throughout the body. These effects can result in devastating medical problems including blindness, life-threatening cardiovascular complications, and skin calcification.Some infants with ABCC6 Deficiency are diagnosed with generalized arterial calcification of infancy (GACI) type 2, a vascular condition that resembles GACI type 1, the acute infantile form of ENPP1 Deficiency. In older patients, ABCC6 Deficiency presents as pseudoxanthoma elasticum (PXE), a rare, inherited disorder in which individuals develop calcification of soft connective tissues, including in the eyes, cardiovascular system, and skin. Individuals with PXE often have abnormalities in the eyes, such as changes in the pigmented cells of the retina; angioid streaks (tiny cracks in Bruch's membrane, the inner layer of the retina); and choroidal vascularization (bleeding and scarring of the retina), possibly leading to vision loss. Patients with PXE may also exhibit yellowish bumps, papules, on the neck, underarms, and other areas of the skin which becomes leathery and sagging. The skin findings indicate a general, systemic, pathological process of soft tissue calcification.
About INZ-701
INZ-701 is an ENPP1 enzyme replacement therapy in development for the treatment of mineralization disorders of the circulatory system, bones, and kidneys. In preclinical studies, the experimental therapy has shown potential to generate plasma pyrophosphate (PPi) and to restore it to appropriate physiological levels, thereby preventing calcification in the vasculature and kidneys, while at the same time correcting bone abnormalities. Inozyme is developing INZ-701 for certain rare, life-threatening, and devastating genetic disorders such as ENPP1 Deficiency and ABCC6 Deficiency in which PPi levels are below the normal physiological levels.Inozyme is preparing to initiate a Phase 1/2 clinical trial in patients with ENPP1 Deficiency in the first half of 2021 and a separate Phase 1/2 clinical trial in patients with ABCC6 Deficiency in mid-2021.
About Inozyme Pharma
Inozyme Pharma (NASDAQ:INZY) is a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton. Through our in-depth understanding of the biological pathways involved in mineralization, we are pursuing the development of therapeutics to address the underlying causes of these debilitating diseases. It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 Deficiencies.Inozyme Pharma was founded in 2017 by Joseph Schlessinger, Ph.D., Demetrios Braddock, M.D., Ph.D., and Axel Bolte, MSc, MBA, with technology developed by Dr. Braddock and licensed from Yale University. For more information, please visit www.inozyme.com.
Cautionary Note Regarding Forward-Looking Statements
Statements in this press release about future expectations, plans, and prospects, as well as any other statements regarding matters that are not historical facts, may constitute "forward-looking statements" within the meaning of The Private Securities Litigation Reform Act of 1995. These statements include, but are not limited to, statements relating to the potential of our lead product candidate, INZ-701, the initiation and timing of our future clinical trials and our research and development programs. The words "anticipate," "believe," "continue," "could," "estimate," "expect," "intend," "may," "plan," "potential," "predict," "project," "should," "target," "will," "would" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, risks associated with the Company's ability to initiate its planned Phase 1/2 clinical trials of INZ-701 for ENPP1 Deficiency and ABCC6 Deficiency; obtain and maintain necessary approvals from the FDA and other regulatory authorities; continue to advance its product candidates in preclinical studies and clinical trials; replicate in later clinical trials positive results found in preclinical studies and early-stage clinical trials of its product candidates; advance the development of its product candidates under the timelines it anticipates in planned and future clinical trials; obtain, maintain and protect intellectual property rights related to its product candidates; manage expenses; and raise the substantial additional capital needed to achieve its business objectives. For a discussion of other risks and uncertainties, and other important factors, any of which could cause the Company's actual results to differ from those contained in the forward-looking statements, see the "Risk Factors" section, as well as discussions of potential risks, uncertainties, and other important factors, in the Company's most recent filings with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the Company's views as of the date hereof and should not be relied upon as representing the Company's views as of any date subsequent to the date hereof. The Company anticipates that subsequent events and developments will cause the Company's views to change. However, while the Company may elect to update these forward-looking statements at some point in the future, the Company specifically disclaims any obligation to do so.Contacts
Investors:
Inozyme Pharma
Stefan Riley, Director of Investor Relations
[email protected]Media:
SmithSolve
Alex Van Rees
(973) 442-1555 ext. 111
[email protected]
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BOSTON, May 06, 2021 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc., a rare disease biopharmaceutical company developing novel therapeutics for the treatment of abnormal mineralization, today announced that its co-founder, president, and CEO, Axel Bolte, MSc, MBA, will participate in a fireside chat at the BofA Securities 2021 Virtual Healthcare Conference on Thursday, May 13, at 11:45 a.m. ET.
The fireside chat will be webcast live and can be accessed from the Investor & News section of Inozyme's website under Events. An archived replay of the webcast will be available for up to 90 days following the event.
About Inozyme Pharma
Inozyme Pharma (NASDAQ:INZY) is a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton. Through our in-depth understanding of the biological pathways involved in mineralization, we are pursuing the development of therapeutics to address the underlying causes of these debilitating diseases. It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 Deficiencies.Inozyme Pharma was founded in 2017 by Joseph Schlessinger, Ph.D., Demetrios Braddock, M.D., Ph.D., and Axel Bolte, MSc, MBA, with technology developed by Dr. Braddock and licensed from Yale University. For more information, please visit www.inozyme.com.
Contacts
Investors:
Inozyme Pharma
Stefan Riley, Director of Investor Relations
[email protected]Media:
SmithSolve
Alex Van Rees
(973) 442-1555 ext. 111
[email protected] -
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- Peer-reviewed article in Journal of Bone and Mineral Research showed INZ-701 increased pyrophosphate (PPi) levels, improved disease markers, and decreased mortality in an ENPP1-deficient mouse model -
- Preclinical findings support increase of PPi levels as a predictive marker of therapeutic benefit -
BOSTON, April 29, 2021 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc., a rare disease biopharmaceutical company developing novel therapeutics for the treatment of abnormal mineralization, today announced the online pre-publication release of preclinical data suggesting the potential of its lead development candidate, INZ-701, as a treatment for ENPP1 Deficiency. As reported in the Journal of Bone and Mineral Research (JBMR), in an article titled, "INZ‐701 prevents ectopic tissue calcification and restores bone architecture and growth in ENPP1 deficient mice", treatment with INZ-701 was associated with increased plasma levels of pyrophosphate (PPi), a potent regulator of mineralization, as well as improvements in several other disease markers and decreased mortality in a mouse model of ENPP1 Deficiency. The publication is the first to present data on INZ-701 in a peer-reviewed journal.
"In addition to boosting circulating levels of PPi, INZ-701 prevented pathological calcification in all tested organs, improved growth parameters, corrected bone defects, improved clinical signs, and decreased mortality in ENPP1-deficient mice. These results strengthen the rationale for INZ-701 as a potential treatment for ENPP1 Deficiency and support the endpoints for our planned clinical trials," said Yves Sabbagh, Ph.D., Senior Vice President and Chief Scientific Officer of Inozyme Pharma. "We are pleased that the editors of the JBMR recognize the importance of these preclinical data and their potential implications for patients and families affected by ENPP1 Deficiency."
ENPP1 Deficiency is a progressive condition that manifests as a spectrum of disease. The most extreme manifestation seen in newborns and infants, generalized arterial calcification of infancy (GACI), is characterized by severe vascular calcification and neointimal proliferation (overgrowth of smooth muscle cells inside blood vessels), resulting in dysfunction and failure of major organs such as the heart and kidneys. The condition is lethal in an estimated 50% of affected babies. Children and adults with ENPP1 Deficiency are affected by autosomal-recessive hypophosphatemic rickets type 2 (ARHR2), which is characterized by bone defects such as rickets and osteomalacia (softened bones), and often exhibit a range of signs and symptoms that can include hearing loss, arterial calcification, cardiac and neurological involvement.
The JBMR publication highlights the following preclinical findings with INZ-701:
- Increase of PPi:
- Durable increases in PPi levels were observed after subcutaneous administration of a single dose of INZ-701 (5 mg/kg) in ENPP1-deficient mice.
- In a dose-response study, animals injected with INZ-701 (0.2, 1, or 5 mg/kg every other day for eight weeks) showed a dose-dependent elevation in plasma ENPP1 activity and an average increase of approximately 2 µM in plasma PPi. Those findings suggested that INZ-701 at a dose as low as 0.2 mg/kg every other day was sufficient to maintain increased plasma PPi levels after eight weeks.
- Prevention of calcification:
- Repeated dosing of INZ-701 at 0.2 mg/kg tended to reduce tissue calcium levels in the kidney, spleen, lung, and liver.
- Dosing at 1 mg/kg significantly reduced calcification in most of the tissues.
- Dosing at 5 mg/kg completely prevented calcification in all tissues.
- Correction of bone defects:
- INZ-701 treatment led to a dose-dependent increase in trabecular number (a measure of bone texture correlated with bone microarchitecture), cortical thickness, bone volume, and bone mineral density.
- Restoration of growth parameters:
- INZ-701 treatment resulted in a clear dose response in rescuing slow growth in ENPP1-deficient mice during the first four weeks of the study.
- By the end of the study (day 56), mice treated with INZ-701 gained significant weight and reached approximately 15-16 grams in the 0.2 and 1 mg/kg dosing groups, and approximately 18 grams in the 5 mg/kg dosing group, compared to approximately 20 grams in wild-type (WT) mice.
- ENPP1-deficient mice dosed with vehicle failed to gain weight from roughly four weeks of age to the end of the study.
- Improvements in other clinical signs:
- Compared to the vehicle-treated group, ENPP1-deficient mice dosed with 0.2 mg/kg of INZ-701 showed less severe clinical signs associated with ENPP1 deficiency (dehydration, hunched back, stilted gait, rough hair coat and pinned ears) from day 27.
- Mice dosed with 1 mg/kg of INZ-701 did not show any signs of morbidity until the eighth week of the study.
- No abnormalities were observed in any WT mice or in ENPP1-deficient mice treated with 5 mg/kg of INZ-701.
About ENPP1 Deficiency
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. ENPP1 Deficiency affects patients across the age spectrum and manifests as either generalized arterial calcification of infancy (GACI) type 1 or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). GACI type 1 is a devastating and often fatal disease affecting infants and is characterized by calcification and narrowing of large and medium-sized arteries, resulting in heart failure and death in about half of patients within the first six months of life. Mutations in the ABCC6 gene can also cause an infantile onset of the disease called GACI type 2. ARHR2 manifests in the post-infancy stage and causes rickets, weakened bones, repeated bone fractures, skeletal deformities, short stature, muscle weakness, fatigue, and bone pain.About INZ-701
INZ-701 is an enzyme replacement therapy in development for the treatment of mineralization disorders of the circulatory system, bones, and kidneys. In preclinical studies, the experimental therapy has shown potential to generate plasma pyrophosphate (PPi) and to restore it to appropriate physiological levels, thereby preventing calcification in the vasculature and kidneys, while at the same time normalizing bone mineralization. Inozyme is developing INZ-701 for certain rare, life-threatening, and devastating genetic disorders such as ENPP1 Deficiency and ABCC6 Deficiency in which PPi levels are below the normal physiological levels.Inozyme is preparing to initiate a Phase 1/2 clinical trial in patients with ENPP1 Deficiency in the first half of 2021 and a separate Phase 1/2 clinical trial in patients with ABCC6 Deficiency in mid-2021.
About Inozyme Pharma
Inozyme Pharma (NASDAQ:INZY) is a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton. Through our in-depth understanding of the biological pathways involved in mineralization, we are pursuing the development of therapeutics to address the underlying causes of these debilitating diseases. It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 Deficiencies.Inozyme Pharma was founded in 2017 by Joseph Schlessinger, Ph.D., Demetrios Braddock, M.D., Ph.D., and Axel Bolte, MSc, MBA, with technology developed by Dr. Braddock and licensed from Yale University. For more information, please visit www.inozyme.com.
Cautionary Note Regarding Forward-Looking Statements
Statements in this press release about future expectations, plans, and prospects, as well as any other statements regarding matters that are not historical facts, may constitute "forward-looking statements" within the meaning of The Private Securities Litigation Reform Act of 1995. These statements include, but are not limited to, statements relating to the potential of our lead product candidate, INZ-701, the initiation and timing of our future clinical trials and our research and development programs. The words "anticipate," "believe," "continue," "could," "estimate," "expect," "intend," "may," "plan," "potential," "predict," "project," "should," "target," "will," "would" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, risks associated with the Company's ability to initiate its planned Phase 1/2 clinical trials of INZ-701 for ENPP1 Deficiency and ABCC6 Deficiency; obtain and maintain necessary approvals from the FDA and other regulatory authorities; continue to advance its product candidates in preclinical studies and clinical trials; replicate in later clinical trials positive results found in preclinical studies and early-stage clinical trials of its product candidates; advance the development of its product candidates under the timelines it anticipates in planned and future clinical trials; obtain, maintain and protect intellectual property rights related to its product candidates; manage expenses; and raise the substantial additional capital needed to achieve its business objectives. For a discussion of other risks and uncertainties, and other important factors, any of which could cause the Company's actual results to differ from those contained in the forward-looking statements, see the "Risk Factors" section, as well as discussions of potential risks, uncertainties and other important factors, in the Company's most recent filings with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the Company's views as of the date hereof and should not be relied upon as representing the Company's views as of any date subsequent to the date hereof. The Company anticipates that subsequent events and developments will cause the Company's views to change. However, while the Company may elect to update these forward-looking statements at some point in the future, the Company specifically disclaims any obligation to do so.Contacts
Investors:
Inozyme Pharma
Stefan Riley, Director of Investor Relations
[email protected]Media:
SmithSolve
Alex Van Rees
(973) 442-1555 ext. 111
[email protected] - Increase of PPi:
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BOSTON, April 28, 2021 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (NASDAQ:INZY), a rare disease biopharmaceutical company developing novel therapeutics for the treatment of abnormal mineralization disorders, today announced that preclinical data from a study examining INZ-701 for the potential treatment for ABCC6 Deficiency/Pseudoxanthoma elasticum (PXE) will be presented at the following upcoming medical conferences:
Conference: Society for Investigative Dermatology (SID) 2021 Virtual Meeting
Title: INZ-701 prevents ectopic mineralization in an Abcc6-/- mouse model of pseudoxanthoma elasticum
Presenter: Joely D. Jacobs, Research Assistant, Department of Dermatology and Cutaneous Biology, Thomas Jefferson University
Session: Interactive Poster/Exhibitor Session I
Date and Time: Wednesday, May 5, 2021 from 2:30-4:00 p.m. E.T.Conference: European Calcified Tissue Society (ECTS) 2021 Digital Congress
Title: INZ-701, a recombinant ENPP1-Fc protein, prevents ectopic mineralization in a mouse model of Pseudoxanthoma Elasticum
Presenter: Zhiliang Cheng, Ph.D., Vice President, Research at Inozyme Pharma
Session: Plenary Oral Presentations 1: Genetics & Bone
Date and Time: Friday, May 7, 2021 from 10:30-11:30 a.m. C.E.T.About Inozyme Pharma
Inozyme Pharma (NASDAQ:INZY) is a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton. Through our in-depth understanding of the biological pathways involved in mineralization, we are pursuing the development of therapeutics to address the underlying causes of these debilitating diseases. It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 Deficiencies.Inozyme Pharma was founded in 2017 by Joseph Schlessinger, Ph.D., Demetrios Braddock, M.D., Ph.D., and Axel Bolte, MSc, MBA, with technology developed by Dr. Braddock and licensed from Yale University. For more information, please visit www.inozyme.com.
Cautionary Note Regarding Forward-Looking Statements
Statements in this press release about future expectations, plans and prospects, as well as any other statements regarding matters that are not historical facts, may constitute "forward-looking statements" within the meaning of The Private Securities Litigation Reform Act of 1995. These statements include, but are not limited to, statements relating to the initiation and timing of our future clinical trials and our research and development programs. The words "anticipate," "believe," "continue," "could," "estimate," "expect," "intend," "may," "plan," "potential," "predict," "project," "should," "target," "will," "would" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, risks associated with the Company's ability to obtain and maintain necessary approvals from the FDA and other regulatory authorities; continue to advance its product candidates in preclinical studies and clinical trials; replicate in later clinical trials positive results found in preclinical studies and early-stage clinical trials of its product candidates; advance the development of its product candidates under the timelines it anticipates in planned and future clinical trials; obtain, maintain and protect intellectual property rights related to its product candidates; manage expenses; and raise the substantial additional capital needed to achieve its business objectives. For a discussion of other risks and uncertainties, and other important factors, any of which could cause the Company's actual results to differ from those contained in the forward-looking statements, see the "Risk Factors" section, as well as discussions of potential risks, uncertainties, and other important factors, in the Company's most recent filings with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the Company's views as of the date hereof and should not be relied upon as representing the Company's views as of any date subsequent to the date hereof. The Company anticipates that subsequent events and developments will cause the Company's views to change. However, while the Company may elect to update these forward-looking statements at some point in the future, the Company specifically disclaims any obligation to do so.Contacts
Investors:
Inozyme Pharma
Stefan Riley, Director of Investor Relations
[email protected]Media:
SmithSolve
Alex Van Rees
(973) 442-1555 ext. 111
[email protected] -
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BOSTON, April 14, 2021 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc., a rare disease biopharmaceutical company developing novel therapeutics for the treatment of abnormal mineralization disorders, today presented data that highlight the burden of disease for patients and families affected by ENPP1 Deficiency and ABCC6 Deficiency, two devastating and potentially deadly genetic diseases. In a poster entitled, From the Voice of Patients and Caregivers: Burden of Illness in Infantile Onset ABCC6 and ENPP1 Deficiency (GACI and ARHR2), Inozyme and GACI Global reported that patients in different age groups are impacted in different ways, an age-based shift that reflects the progression of these rare genetic diseases. The poster was presented virtually beginning on April 14th at the annual meeting of the American College of Medical Genetics and Genomics (ACMG).
Patients with ENPP1 Deficiency or ABCC6 Deficiency exhibit a range of signs and symptoms that can include arterial calcification, cardiac and neurological involvement, skeletal abnormalities, and hearing loss. ENPP1 Deficiency manifests as generalized arterial calcification of infancy (GACI) type 1 in infants and autosomal recessive hypophosphatemic rickets type 2 (ARHR2) in children and adults. ABCC6 Deficiency is a disease that can lead to an acute form called GACI type 2 in infants and pseudoxanthoma elasticum (PXE) in older patients.
"This study is the first to describe the burden of illness in infantile-onset ABCC6 Deficiency and across the age spectrum in patients with ENPP1 Deficiency," noted Catherine Nester, Vice President of Physician and Patient Strategies at Inozyme, and one of the authors of the poster presented at ACMG. "Although we knew that the cardiovascular and skeletal complications of these diseases exact a significant burden on patients and families, we were surprised to learn just how burdensome the actual care coordination can be, from securing a diagnosis, to dealing with multiple tests and treatment options, to managing ongoing care from multiple specialists. The knowledge gained from this study will inform our efforts to develop therapies that we hope will ease the burden for patients and families living with these devastating rare genetic diseases."
Inozyme worked in partnership with GACI Global to conduct the From the Voice of Patients and Caregivers study. GACI Global is a patient advocacy organization dedicated to providing hope and education to patients and families affected by GACI and ARHR2. The study collected primary patient-reported outcomes data to determine the disease burden in individuals diagnosed with infantile-onset ABCC6 Deficiency or ENPP1 Deficiency in patients of all ages. A total of 38 respondents from nine countries participated in the study, including six individuals with ABCC6 Deficiency, 12 infants with ENPP1 Deficiency, 13 children with ENPP1 Deficiency, and seven adults with ENPP1 Deficiency. Parents or caregivers responded on behalf of patients younger than 18 years of age. The study included responses from parents or caregivers of 11 deceased patients, 10 of whom died within the first 12 months of life.
The most frequently reported burdens for patients with ENPP1 Deficiency at all time points were:
- bone and joint pain (100% of adult patients, 85% of pediatric patients)
- cardiac issues (86% of adult patients, 85% of pediatric patients)
- mobility issues/fatigue (86% of adult patients, 85% of pediatric patients)
The most frequently reported symptoms for patients with ABCC6 Deficiency were:
- gastrointestinal issues (83%)
- growth and development issues (83%)
- cardiac issues (67%)
The study also assessed the importance of each burden for each cohort using a weighted score approach:
- In the ABCC6 Deficiency cohort, fear of the unknown was the heaviest burden, followed by cardiac issues and difficulty with the hospital experience.
- In the infant ENPP1 Deficiency cohort, cardiac issues were the greatest burden, followed by difficulty with the hospital experience and issues related to growth and development.
- In the pediatric ENPP1 Deficiency cohort, treatments/medications were most burdensome, followed by issues related to hearing loss and stress/anxiety.
- The adult ENPP1 Deficiency cohort was most burdened by issues related to bone/joint pain. Other heavily weighted burdens in this cohort included mobility issues, fatigue, and fear of the unknown.
"From the unthinkable devastation of a new parent losing their child, to cardiac complications for infants, to the complex medical management of cardiovascular and skeletal issues in pediatric patients, and the cumulative impact of cardiovascular and skeletal complications in adults, this study clearly shows that ENPP1 and ABCC6 Deficiencies are chronic and highly morbid diseases that affect patients of all ages, as reflected in the constellation of physical, emotional, and social burdens across the age continuum," commented Christine O'Brien, co-president of GACI Global and co-author of the study. "We hope our results spur further study of ABCC6 and ENPP1 Deficiencies, and that improved understanding, diagnosis, and management of these rare genetic diseases will alleviate some of the uncertainty and fear for patients and families."
About ENPP1 Deficiency
The ENPP1 gene produces a critical enzyme called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), which regulates inorganic pyrophosphate (PPi) levels in plasma. PPi is essential for preventing harmful soft tissue calcification and for regulating normal bone mineralization. ENPP1 Deficiency affects patients across the age spectrum and manifests as either generalized arterial calcification of infancy (GACI) type 1 or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). GACI type 1 is a devastating and often fatal disease affecting infants and is characterized by calcification and narrowing of large and medium-sized arteries, resulting in heart failure and death in about half of patients within the first six months of life. Mutations in the ABCC6 gene can also cause an infantile onset of the disease called GACI type 2. ARHR2 manifests in the post-infancy stage and causes rickets, weakened bones, repeated bone fractures, skeletal deformities, short stature, muscle weakness, fatigue, and bone pain.About ABCC6 Deficiency
The ABCC6 gene encodes a protein called ATP-binding cassette sub-family C member 6, a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across cellular membranes both within and outside of cells. ABCC6 Deficiency is a rare, inherited disorder caused by mutations in the ABCC6 gene, resulting in decreased or absent activity of the ABCC6 protein. A systemic and progressively debilitating condition estimated to affect more than 67,000 individuals worldwide, ABCC6 Deficiency leads to low levels of pyrophosphate (PPi) and is associated with pathological mineralization in blood vessels and soft tissues throughout the body. These effects can result in devastating medical problems including blindness, life-threatening cardiovascular complications, and skin calcification. Some infants with ABCC6 Deficiency are diagnosed with generalized arterial calcification of infancy (GACI) type 2, a vascular condition that resembles GACI type 1. In older patients, ABCC6 Deficiency presents as pseudoxanthoma elasticum (PXE), a rare, inherited disorder in which individuals develop calcification of soft connective tissues, including in the eyes, cardiovascular system, and skin.About INZ-701
INZ-701 is an enzyme replacement therapy in development for the treatment of mineralization disorders of the circulatory system, bones, and kidneys. In preclinical studies, the experimental therapy has shown potential to generate plasma pyrophosphate (PPi) and to restore it to appropriate physiological levels, thereby preventing calcification in the vasculature and kidneys, while at the same time normalizing bone mineralization. Inozyme is developing INZ-701 for certain rare, life-threatening, and devastating genetic disorders such as ENPP1 Deficiency and ABCC6 Deficiency in which PPi levels are below the normal physiological levels.Inozyme is preparing to initiate a Phase 1/2 clinical trial in patients with ENPP1 Deficiency in the first half of 2021 and a separate Phase 1/2 clinical trial in patients with ABCC6 Deficiency in mid-2021.
About Inozyme Pharma
Inozyme Pharma (NASDAQ:INZY) is a rare disease biopharmaceutical company developing novel therapeutics for the treatment of diseases of abnormal mineralization impacting the vasculature, soft tissue, and skeleton. Through our in-depth understanding of the biological pathways involved in mineralization, we are pursuing the development of therapeutics to address the underlying causes of these debilitating diseases. It is well established that two genes, ENPP1 and ABCC6, play key roles in a critical mineralization pathway and that defects in these genes lead to abnormal mineralization. We are initially focused on developing a novel therapy to treat the rare genetic diseases of ENPP1 and ABCC6 Deficiencies.
Inozyme Pharma was founded in 2017 by Joseph Schlessinger, Ph.D., Demetrios Braddock, M.D., Ph.D., and Axel Bolte, MSc, MBA, with technology developed by Dr. Braddock and licensed from Yale University. For more information, please visit www.inozyme.com.
About GACI Global
GACI Global is a nonprofit patient advocacy group whose mission is to connect families affected by Generalized Arterial Calcification of Infancy of Hypophosphatemic Rickets caused by ENPP1 or ABCC6 deficiencies to each other and to the medical community. The organization strives to provide current educational resources and supports ongoing research. The goal of this 100% volunteer-run organization is to provide not only information about what complications can occur due to ENPP1 and ABCC6 deficiencies, but to provide hope for families impacted by the condition around the world.Cautionary Note Regarding Forward-Looking Statements
Statements in this press release about future expectations, plans, and prospects, as well as any other statements regarding matters that are not historical facts, may constitute "forward-looking statements" within the meaning of The Private Securities Litigation Reform Act of 1995. These statements include, but are not limited to, statements relating to the initiation and timing of our future clinical trials, our research and development programs, the availability of preclinical study and clinical trial data, the timing of our regulatory applications and the period over which we believe that our existing cash, cash equivalents and investments will be sufficient to fund our operating expenses. The words "anticipate," "believe," "continue," "could," "estimate," "expect," "intend," "may," "plan," "potential," "predict," "project," "should," "target," "will," "would" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, risks associated with the Company's ability to initiate its planned Phase 1/2 clinical trials of INZ-701 for ENPP1 Deficiency and ABCC6 Deficiency; obtain and maintain necessary approvals from the FDA and other regulatory authorities; continue to advance its product candidates in preclinical studies and clinical trials; replicate in later clinical trials positive results found in preclinical studies and early-stage clinical trials of its product candidates; advance the development of its product candidates under the timelines it anticipates in planned and future clinical trials; obtain, maintain and protect intellectual property rights related to its product candidates; manage expenses; and raise the substantial additional capital needed to achieve its business objectives. For a discussion of other risks and uncertainties, and other important factors, any of which could cause the Company's actual results to differ from those contained in the forward-looking statements, see the "Risk Factors" section, as well as discussions of potential risks, uncertainties, and other important factors, in the Company's most recent filings with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the Company's views as of the date hereof and should not be relied upon as representing the Company's views as of any date subsequent to the date hereof. The Company anticipates that subsequent events and developments will cause the Company's views to change. However, while the Company may elect to update these forward-looking statements at some point in the future, the Company specifically disclaims any obligation to do so.Contacts
Investors:
Inozyme Pharma
Axel Bolte, co-founder, president, and chief executive officer
[email protected]Media:
SmithSolve
Alex Van Rees
(973) 442-1555 ext. 111
[email protected]