이 페이지는 자동 번역되었으며 번역의 정확성을 보장하지 않습니다. 참조하십시오 영문판 원본 텍스트의 경우.

PROPEL - ENPP1 및 ABCC6 결핍을 평가하기 위한 전향적 관찰 환자 레지스트리

2026년 9월 28일 업데이트: Inozyme Pharma

ENPP1 결핍 및 영아 발병 ABCC6 결핍(GACI 유형 2) 환자의 질병 진행을 평가하기 위한 전향적 관찰 환자 등록소

The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) Deficiency longitudinally. The registry will prospectively gather information about the genetic, biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes [PROs]) of each disease during routine, standard-of-care visits, with the aim of developing a comprehensive understanding of the burden of illness and progressive nature of the disease.

연구 개요

상태

종료됨

정황

개입 / 치료

상세 설명

ENPP1 Deficiency is a rare, genetic disorder caused by inactivating mutations in the ENPP1 gene that encodes the ENPP1 enzyme. Infantile-onset ENPP1 Deficiency has a high mortality (approximately 50%) in the first 0 to 6 months of life, a result of downstream cardiopulmonary complications. Pediatric patients with ENPP1 Deficiency typically experience rickets, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2), while adults experience osteomalacia (softened bones), and they can exhibit a range of signs and symptoms that include hearing loss, arterial calcification, and cardiac and/or neurological involvement.

Like ENPP1 Deficiency, infantile-onset ABCC6 Deficiency is a rare, genetic disorder caused by mutations in the ABCC6 gene. Infantile-onset of ABCC6 Deficiency resembles the acute infantile form of ENPP1 Deficiency. Pediatric patients with biallelic or monoallelic ABCC6 mutations can present with cerebrovascular disease.

This is an international, multicenter, prospective, non-interventional, observational registry of patients with biallelic variants in ENPP1, symptomatic patients with monoallelic ENPP1 variants and the infantile-onset form of ABCC6 Deficiency (<18 years of age). The registry will include patients with ENPP1 Deficiency or infantile-onset of ABCC6 Deficiency independent of treatment regimen. Note: patients participating in an INZ-701 interventional clinical study are not eligible.

Registry participation will consist of a Screening Period and an Observational Period. During the Screening Period, both retrospective data (past medical history) and data available at the time of consent (baseline visit) will be collected. Data collected will include standard of care assessments, which may consist of any or all of the following: laboratory testing, radiographical assessment of calcification and vascular stenosis, bone mineralization, with addition of performance outcomes, patient-, caregiver-, and physician-reported outcomes, and healthcare utilization. During the Observational Period, participants will be assessed during their routine visits for changes in their disease and PROs and data will be added periodically to the database. There will be an opportunity for an optional blood draw to assess levels of inorganic pyrophosphate (PPi) at each routine visit.

연구 유형

관찰

등록 (실제)

54

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 장소

  • 독일
      • Hamburg, 독일, 20251
        • Universitätsklinikum Hamburg-Eppendorf
  • 미국
    • Illinois
      • Chicago, Illinois, 미국, 60611
        • Ann and Robert H. Lurie Children's Hospital
    • Massachusetts
      • Boston, Massachusetts, 미국, 02115
        • Boston Children's Hospital
    • Minnesota
      • Rochester, Minnesota, 미국, 55905
        • Mayo Clinic
    • New Jersey
      • Eatontown, New Jersey, 미국, 07724
        • CLINILABS Drug Development Corp
    • Pennsylvania
      • Philadelphia, Pennsylvania, 미국, 19104
        • The Children's Hospital of Philadelphia (CHOP)
  • 스페인
      • Barcelona, 스페인, 08029
        • EU Hub - VCTC
      • Barcelona, 스페인, 08950
        • Hospital Sant Joan de Deu
  • 영국
      • Derby, 영국, DE11 7AQ
        • VCTC
  • 오만
      • Muscat, 오만
        • Royal Hospital Muscat
  • 이탈리아
      • Milan, 이탈리아, 20132
        • IRCCS San Raffaele Hospital - Main
  • 일본
      • Tokyo, 일본, 113-8655
        • The University of Tokyo Hospital
  • 캐나다
    • Quebec
      • Montreal, Quebec, 캐나다, H3T1C5
        • CHU Sainte-Justine Research Centre
  • 터키 (Türkiye)
      • Istanbul, 터키 (Türkiye), 34764
        • Umraniye Training and Research Hospital

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

  • 어린이
  • 성인
  • 고령자

건강한 자원 봉사자를 받아들입니다

아니

연구 대상 성별

모두

샘플링 방법

비확률 샘플

연구 인구

Evidence of biallelic ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) variants in ENPP1 Deficiency

or

Evidence of monoallelic ENPP1 variants and disease-related symptoms

or

Infantile onset with biallelic adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) variants in participants aged <18 years.

설명

Inclusion Criteria:

Individuals eligible to participate must meet all the following inclusion criteria:

  1. Must provide written or electronic consent after the nature of the registry has been explained, and prior to any research-related procedures, per International Council for Harmonisation (ICH) Good Clinical Practice (GCP)

  2. Agree to provide access to relevant medical records

  3. One of the following genetic or clinical criteria

    1. A confirmed prenatal or postnatal molecular genetic diagnosis of ENPP1 Deficiency with biallelic mutations (ie, homozygous or compound heterozygous) performed by a College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA) certified laboratory or regional equivalent

      OR

    2. Monoallelic ENPP1 mutation confirmed by a certified CAP/CLIA laboratory or regional equivalent and any of the following clinical symptoms:

    i. ≥ 1 traumatic vertebral fracture

ii. ≥ 2 fractures as an adult (eg, long-bones, digits, vertebrae)

iii. Low bone mineral density (dual-energy X-ray absorptiometry [DXA] Z-score <1.5) and <55 years of age

iv. Bone or joint pain interfering with movement or daily activities

v. History of myocardial infarction (MI), unstable angina, transient ischemic attack (TIA) or low cardiac output before the age of 40 yrs.

vi. History of rickets or bone deformity

vii. Diagnosis of ossification of the posterior longitudinal ligament (OPLL)

viii. Other clinical symptoms, with approval by Inozyme

OR

c. A confirmed prenatal or postnatal molecular genetic diagnosis of ABCC6 Deficiency with biallelic mutations confirmed by a certified CAP/CLIA laboratory or regional equivalent, and <18 years of age

Exclusion Criteria:

Individuals who meet the following exclusion criteria will not be eligible to participate:

  1. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent

  2. Patients who are currently participating in an INZ-701 interventional clinical study, with the exception of expanded access programs and long-term safety follow-up studies

    1. Participants in interventional studies may be approached for inclusion in the registry once their involvement in the treatment period of the clinical study has been completed

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

  • 관찰 모델: CASE_ONLY
  • 시간 관점: PROSPECTIVE

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
측정값 설명
기간
Characterization of the natural history of ENPP1 Deficiency and the infantile-onset form of ABCC6 Deficiency longitudinally
기간: Annually up to 10 years

Assessments will be collected during each subject's routine visit. The assessments will be done per local standard of care.
Annually up to 10 years
Assessment of Patient Functional changes through a validated Patient Reported Outcomes (PROs) tool
기간: Annually up to 10 years

For each subject, patient function will be assessed using the appropriate Patient-Reported Outcomes Measurement Information System (PROMIS) questionnaires. These may include: PROMIS Cognitive Function, PROMIS Fatigue, PROMIS Pain Intensity, PROMIS Pain Interference and PROMIS Physical Function. Each questionnaire is scored on a 5-point Likert scale ranging from 1 (never) to 5 (always). High scores indicate more of the domain being measured (eg, more fatigue, more physical function). Raw scores are converted to T-Scores based on a mean of 50 and a standard deviation of 10, allowing comparison of the sample to the general population.

Parent Proxy questionnaires will be used for children aged 5 to <18 years
Annually up to 10 years
Assessment of Health-Related Quality-of-Life (HRQoL) changes through validated Patient Reported Outcomes (PROs) tools
기간: Annually up to 10 years

For each subject, HRQoL will be assessed using the following scales:

age 5 to <18 years: Pediatric QoL scales (Short Form [SF]-10, Caregiver Global Impression of Status/Severity [CaGI-S]);

age ≥18 years: Adult QoL scales (Short Form [SF]-36, Patient Global Impression of Status/Severity [PGI-S])

The SF-10 is a 10-item caregiver-completed questionnaire for assessment of physical and psychosocial HRQoL in children. Each question has 5 options ranging from "Excellent" to "Poor". Higher scores are associated with better HRQoL.

The SF-36 measures a broad spectrum of physical and mental health domains, including physical functioning, role limitations due to physical and emotional problems, bodily pain, general health perceptions, vitality, social functioning, and emotional well-being. The SF-36 generates scores ranging from 0-100 with higher scores associated with better HRQoL.

The CaGI-S and PGI-S will be scored across a 7-point scale with lower scores associated with better HRQoL.
Annually up to 10 years
Measurement of inorganic phosphate (PPi) levels in patients' venous blood
기간: Annually up to 10 years

For each subject, QoL will be assessed using the following scales: global clinical impression of severity (GCI-S) and, short form 10 health survey for children and short form 36 health survey for adults short form 10 health survey for children and short form 36 health survey for adults
Annually up to 10 years

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

스폰서

Inozyme Pharma

협력자

GACI Global

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작 (실제)

2024년 7월 25일

기본 완료 (실제)

2026년 8월 28일

연구 완료 (실제)

2026년 8월 28일

연구 등록 날짜

최초 제출

2024년 2월 16일

QC 기준을 충족하는 최초 제출

2024년 3월 4일

처음 게시됨 (실제)

2024년 3월 8일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2026년 10월 1일

QC 기준을 충족하는 마지막 업데이트 제출

2026년 9월 28일

마지막으로 확인됨

2026년 9월 1일

추가 정보

이 연구와 관련된 용어

키워드

추가 관련 MeSH 약관

기타 연구 ID 번호

  • INZ701-007

개별 참가자 데이터(IPD) 계획

개별 참가자 데이터(IPD)를 공유할 계획입니까?

미정

약물 및 장치 정보, 연구 문서

미국 FDA 규제 의약품 연구

아니

미국 FDA 규제 기기 제품 연구

아니

이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .

구독하다