Inozyme Pharma Announces JBMR Plus Publication Demonstrating Real-World Impact of ENPP1 Deficiency
Inozyme Pharma (INZY) has published groundbreaking research in JBMR Plus detailing the largest retrospective analysis of ENPP1 Deficiency, a rare disease affecting bone health and blood vessel function. The study, conducted in collaboration with NIH and Münster University Children's Hospital experts, analyzed 84 individuals with ENPP1 Deficiency.
Key findings revealed that the disease manifests as either Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2). Of the studied cases:
- 51 patients were diagnosed with GACI, with only 19 surviving infancy
- 22 progressed from GACI to ARHR2
- 11 initially presented with ARHR2
The research showed that by age 55, over 95% of patients develop cardiovascular, musculoskeletal, and other organ complications. 60% of patients exhibited arterial calcification within their first 3 months, and by age 10, approximately 70% developed serious musculoskeletal complications.
Inozyme Pharma (INZY) ha pubblicato una ricerca rivoluzionaria su JBMR Plus che dettaglia la più grande analisi retrospettiva della Deficienza di ENPP1, una malattia rara che influisce sulla salute delle ossa e sulla funzione dei vasi sanguigni. Lo studio, condotto in collaborazione con esperti del NIH e dell'ospedale pediatrico dell'Università di Münster, ha analizzato 84 individui con Deficienza di ENPP1.
I risultati chiave hanno rivelato che la malattia si manifesta come Calcificazione Arteriosa Generalizzata dell'Infanzia (GACI) o Rachitismo Ipofosfatemico Autosomico Recessivo di Tipo 2 (ARHR2). Dei casi studiati:
- 51 pazienti sono stati diagnosticati con GACI, di cui solo 19 sono sopravvissuti all'infanzia
- 22 sono passati da GACI a ARHR2
- 11 si sono presentati inizialmente con ARHR2
La ricerca ha mostrato che all'età di 55 anni, oltre il 95% dei pazienti sviluppa complicazioni cardiovascolari, muscoloscheletriche e di altri organi. Il 60% dei pazienti ha mostrato calcificazione arteriosa entro i primi 3 mesi, e all'età di 10 anni, circa il 70% ha sviluppato gravi complicazioni muscoloscheletriche.
Inozyme Pharma (INZY) ha publicado una investigación innovadora en JBMR Plus que detalla el análisis retrospectivo más grande de la Deficiencia de ENPP1, una enfermedad rara que afecta la salud ósea y la función de los vasos sanguíneos. El estudio, realizado en colaboración con expertos del NIH y del Hospital Infantil de la Universidad de Münster, analizó a 84 individuos con Deficiencia de ENPP1.
Los hallazgos clave revelaron que la enfermedad se manifiesta como Calcificación Arterial Generalizada de la Infancia (GACI) o Raquitismo Hipofosfatémico Autosómico Recesivo Tipo 2 (ARHR2). De los casos estudiados:
- 51 pacientes fueron diagnosticados con GACI, de los cuales solo 19 sobrevivieron a la infancia
- 22 progresaron de GACI a ARHR2
- 11 se presentaron inicialmente con ARHR2
La investigación mostró que a la edad de 55 años, más del 95% de los pacientes desarrollan complicaciones cardiovasculares, musculoesqueléticas y de otros órganos. El 60% de los pacientes mostró calcificación arterial dentro de los primeros 3 meses, y a la edad de 10 años, aproximadamente el 70% desarrolló complicaciones musculoesqueléticas graves.
Inozyme Pharma (INZY)는 JBMR Plus에 ENPP1 결핍증에 대한 가장 큰 회고적 분석을 자세히 설명하는 혁신적인 연구를 발표했습니다. 이 희귀 질환은 뼈 건강과 혈관 기능에 영향을 미칩니다. 이 연구는 NIH 및 뮌스터 대학교 아동병원 전문가들과 협력하여 84명의 ENPP1 결핍증 환자를 분석했습니다.
주요 발견은 이 질환이 유아기 일반화된 동맥 석회화(GACI) 또는 자가 열성 저인산혈증성 구루병 2형(ARHR2)으로 나타난다는 것입니다. 연구된 사례 중:
- 51명의 환자가 GACI로 진단되었고, 그 중 19명만이 유아기를 생존했습니다.
- 22명이 GACI에서 ARHR2로 진행했습니다.
- 11명은 처음에 ARHR2로 나타났습니다.
연구 결과, 55세가 되었을 때 95% 이상의 환자가 심혈관, 근골격계 및 기타 장기 합병증을 개발하는 것으로 나타났습니다. 환자의 60%는 처음 3개월 이내에 동맥 석회화를 보였으며, 10세가 되었을 때 약 70%가 심각한 근골격계 합병증을 겪었습니다.
Inozyme Pharma (INZY) a publié des recherches révolutionnaires dans JBMR Plus détaillant la plus grande analyse rétrospective de la Déficience en ENPP1, une maladie rare affectant la santé osseuse et la fonction des vaisseaux sanguins. L'étude, réalisée en collaboration avec des experts des NIH et de l'hôpital pédiatrique de l'Université de Münster, a analysé 84 individus souffrant de Déficience en ENPP1.
Les résultats clés ont révélé que la maladie se manifeste soit sous la forme de Calcification Artérielle Généralisée de l'Enfance (GACI), soit sous la forme de Rachitisme Hypophosphatémique Autosomique Récessif de Type 2 (ARHR2). Parmi les cas étudiés:
- 51 patients ont été diagnostiqués avec GACI, dont seulement 19 ont survécu à l'enfance
- 22 ont progressé de GACI à ARHR2
- 11 se sont initialement présentés avec ARHR2
La recherche a montré qu'à l'âge de 55 ans, plus de 95 % des patients développent des complications cardiovasculaires, musculosquelettiques et d'autres organes. 60 % des patients ont présenté une calcification artérielle dans les 3 premiers mois, et à l'âge de 10 ans, environ 70 % ont développé de graves complications musculosquelettiques.
Inozyme Pharma (INZY) hat bahnbrechende Forschung in JBMR Plus veröffentlicht, die die größte retrospektive Analyse der ENPP1-Mangel beschreibt, einer seltenen Erkrankung, die die Knochengesundheit und die Funktion der Blutgefäße beeinträchtigt. Die Studie, die in Zusammenarbeit mit Experten des NIH und des Universitätskinderspitals Münster durchgeführt wurde, analysierte 84 Personen mit ENPP1-Mangel.
Wichtige Ergebnisse zeigten, dass sich die Krankheit entweder als Generalisierte Arterielle Verkalkung der Kindheit (GACI) oder als Autosomal Rezessiver Hypophosphatämischer Rachitis Typ 2 (ARHR2) manifestiert. Von den untersuchten Fällen:
- 51 Patienten wurden mit GACI diagnostiziert, von denen nur 19 die Kindheit überlebten
- 22 entwickelten sich von GACI zu ARHR2
- 11 präsentierten sich zunächst mit ARHR2
Die Forschung zeigte, dass über 95 % der Patienten bis zum Alter von 55 Jahren kardiovaskuläre, muskuloskelettale und andere Organ-Komplikationen entwickeln. 60 % der Patienten wiesen innerhalb der ersten 3 Monate arterielle Verkalkungen auf, und bis zum Alter von 10 Jahren entwickelten etwa 70 % schwerwiegende muskuloskelettale Komplikationen.
- Publication of largest-ever retrospective analysis strengthens company's research leadership in ENPP1 Deficiency
- Data supports development potential of INZ-701 as a transformative therapy
- Research provides important insights for drug development and market opportunity
- No immediate revenue impact from the publication
- High mortality rate in target patient population could limit market size
- Complex disease progression requires long-term management, potentially increasing development costs
- Data from the largest retrospective analysis of ENPP1 Deficiency provides insights into the evolution of the disease’s serious cardiovascular and musculoskeletal complications -
- Findings highlight the urgent need for early and improved diagnosis, care and treatments that address the long-term systemic effects of ENPP1 Deficiency -
BOSTON, April 10, 2025 (GLOBE NEWSWIRE) -- Inozyme Pharma, Inc. (Nasdaq: INZY) (“the Company” or “Inozyme”), a clinical-stage biopharmaceutical company developing innovative therapeutics for rare diseases that affect bone health and blood vessel function, today announced the publication of a paper titled, “Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2” in JBMR Plus that characterizes the severity and progression of ENPP1 Deficiency. Inozyme collaborated with leading disease experts Carlos Ferreira, M.D., of the National Institutes of Health (NIH), Frank Rutsch, M.D., of Münster University Children’s Hospital and other global contributors to collect natural history data in the largest retrospective analysis of ENPP1 Deficiency published to date.
“This comprehensive study illustrates the devastating, systemic nature of ENPP1 Deficiency, highlighting its severe cardiovascular implications starting as early as infancy and evolving to significant musculoskeletal complications over a lifetime as individuals go through childhood, adolescence, and then adulthood,” said Matt Winton, Ph.D., Senior Vice President and Chief Operating Officer of Inozyme Pharma. “The findings underscore a critical need for earlier diagnosis and effective treatments. Our lead investigational therapy, INZ-701, is uniquely positioned as a potential transformative therapy to address the underlying causes and systemic impacts of this severe condition.”
Detailed Analysis Reveals Severity and Disease Progression
ENPP1 Deficiency frequently manifests as Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2), representing age-dependent phenotypes that evolve on a continuum over a lifetime. Of the 84 individuals with ENPP1 Deficiency in the analysis, 51 had a recorded diagnosis of GACI, only 19 of whom survived beyond infancy; 22 were diagnosed with GACI and progressed to ARHR2; and 11 presented initially with ARHR2. Importantly, a majority of patients (
- By age 55, over
95% of patients with ENPP1 Deficiency will have had cardiovascular, musculoskeletal, and other organ complications. - Vascular calcification and cardiovascular complications onset predominately in infancy –
60% of patients had arterial or aortic calcification within the first 3 months of life.
- Notably, cardiovascular complications were evident in patients without a diagnosis of GACI –
64% of the group diagnosed with ARHR2-only had cardiovascular manifestations. - By age 10, approximately
70% of patients developed serious musculoskeletal complications, primarily rickets significantly impairing quality of life. Additional complications associated with ARHR2 include hearing impairment and ongoing risk of cardiovascular problems.
These findings highlight that ENPP1 Deficiency is a progressive, lifelong condition requiring coordinated, multidisciplinary care. Even for those who survive infancy, the majority will face ongoing cardiovascular, skeletal, and systemic complications, underscoring the need for early diagnosis and long-term management to improve outcomes.
About ENPP1 Deficiency
ENPP1 Deficiency is a serious and progressive rare disease that affects blood vessels, soft tissues, and bones. Individuals who present in utero or in infancy are typically diagnosed with generalized arterial calcification of infancy (GACI Type 1), with about
About Inozyme Pharma
Inozyme Pharma is a clinical-stage biopharmaceutical company dedicated to developing innovative therapeutics that target the PPi-Adenosine Pathway, a key regulator of bone health and blood vessel function. Disruptions in this pathway underlie a range of severe diseases, including ENPP1 Deficiency. Our lead investigational therapy, INZ-701, is an ENPP1 Fc fusion protein enzyme replacement therapy (ERT) designed to restore PPi and adenosine levels. INZ-701 is currently in late-stage clinical development in ENPP1 Deficiency, with the potential to expand into additional indications where deficiencies in the PPi-Adenosine Pathway contribute to disease pathology. Through our pioneering work, we aim to transform treatment options for patients affected by these devastating conditions.
For more information, please visit https://www.inozyme.com/ or follow Inozyme on LinkedIn, X, and Facebook.
Contacts
Investors:
Inozyme Pharma
Stefan Riley, Senior Director of IR and Corporate Communications
(617) 461-2442
stefan.riley@inozyme.com
Media:
Biongage Communications
Todd Cooper
(617) 840-1637
todd@biongage.com
A photo accompanying this announcement is available at https://www.globenewswire.com/NewsRoom/AttachmentNg/eb5daae6-15b5-4d55-9f50-d2e8d88a974d
FAQ
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