A Retrospective, Longitudinal Natural History Study of Subjects With ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 23
- 试验地点
- 8
- 主要终点
- Participants with Ectopic Calcification
研究概览
简要总结
The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C member 6 (ABCC6) Deficiency through retrospective review of medical records and other available data sources. Information collected on medical history, clinical manifestations, radiographic imaging, and other disease-related assessments may be used to support the development of future therapies for these diseases.
详细描述
Study INZ701-006 is a multicenter, retrospective, observational natural history study designed to evaluate disease presentation and progression in infant, pediatric, and adult subjects with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and in subjects with the early-onset form of adenosine triphosphate-binding cassette transporter subfamily C member 6 (ABCC6) Deficiency.
The study will utilize data obtained from medical records, radiographic imaging, and other available sources to characterize the physiological, anatomical, and functional manifestations of ENPP1 Deficiency and early-onset ABCC6 Deficiency.
For eligible subjects, historical data will be retrospectively abstracted from medical records and other available sources from birth, or earlier when available, through the date of informed consent, loss to follow-up, death, or another defined data cutoff, as applicable.
No study intervention will be administered as part of this observational study.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 1 Day 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participants were eligible for inclusion if they met at least one of the following criteria:
- •Generalized arterial calcification of infancy (GACI) genotype, defined as two pathogenic mutations in ENPP1 and/or ABCC6, confirmed by mutational analysis, and a GACI phenotype confirmed by imaging or biopsy.
- •GACI phenotype confirmed by imaging or biopsy, with mutational analysis demonstrating that each parent carried at least one mutation in ENPP1 and/or ABCC
- •Biallelic mutations in ENPP1 and a clinical phenotype consistent with ENPP1 Deficiency.
- •Mutational analysis demonstrating that each parent carried at least one mutation in ENPP1, together with clinical signs and symptoms consistent with ENPP1 Deficiency in the participant.
- •Availability of medical records and source documentation sufficient for retrospective review.
排除标准
- •Insufficient medical records, imaging studies, or source documentation to support retrospective data collection.
- •Diagnosis not consistent with ENPP1 Deficiency, GACI, or early-onset ABCC6 Deficiency.
- •Inability to obtain informed consent from the participant or legally authorized representative, as required by local regulations.
结局指标
主要结局
Participants with Ectopic Calcification
时间窗: Retrospective assessment of available historical records collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).
Assessment of the occurrence of ectopic calcification documented in available imaging records. Ectopic calcification was identified based on radiologist or investigator interpretation of imaging assessments. The measure was the number of participants with documented ectopic calcification.
Participants With Disease-Related Skeletal Abnormalities
时间窗: Retrospective assessment of available historical records collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).
Assessment of the occurrence of disease-related skeletal abnormalities documented in available medical records and imaging reports. Skeletal abnormalities were identified based on clinical diagnoses and radiographic findings recorded by treating physicians. The measure was the number of participants with documented skeletal abnormalities.
次要结局
- Serum Phosphate Concentration(Retrospective assessment of available serum phosphate measurements collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)
- Global Rickets Severity Score(Retrospective assessment of available radiographic evaluations collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)
- Height Z-Score(Retrospective assessment of available height measurements collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)
- Weight Z-Score(Retrospective assessment of available weight measurements collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)
- Fibroblast Growth Factor 23 (FGF23) Concentration(Retrospective assessment of available FGF23 measurements collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)
- Parathyroid Hormone (PTH) Concentration(Retrospective assessment of available PTH measurements collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)
- Inorganic Pyrophosphate (PPi) Concentration(Retrospective assessment of available PPi measurements collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).)