Generalized Arterial Calcification in InfancyNCT04372446
Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency
An observational study of Generalized Arterial Calcification in Infancy and Autosomal Recessive Hypophosphatemic Rickets Type 2, run by Inozyme Pharma at 1 site in United States.
Trial summary
To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective. This study aims to document this characterization, progression as well as the burden of disease. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets Type 2
- How many people
- 38 participants
- Where
- 1 siteUnited States
- Study dates
- 6 May 2020to 30 Sep 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 60 participants across four groups; person or parent/legal guardian affected by ENPP1 (GACI or ARHR2) or the acute form of ABCC6 def. described below; * Acute infantile ENPP1 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased) * Acute infantile ABCC6 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased) * Progressive pediatric ENPP1 def. who are still growing (note; due to the age of those who are still growing, this group is likely to include parents of affected children) * Adult ENPP1 def. who are no longer growing (note: due to the age of those who are no longer growing, this group is likely to include both patients > age 18 years and parents of affected children who are < age 18 years or who are unable to answer for themselves)
Who may be able to join
- Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older
- The parent/caregiver of a patient who has been diagnosed with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency. Please note, parents/caregivers of patients with ENPP1 deficiency who have passed away may participate
- Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided
- Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.
- Able to grant informed consent
- Willing to participate in a 40-to-60-minute telephone interview, including follow up questions (if necessary)
Who cannot join
- Inability to meet any of the inclusion criteria
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives From Patients and Parents Who Speak English, French or German
To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective. This study aims to document this characterization, progression as well as the burden of disease. Link to the study registration-
https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=8252n62
Read the detailed description
This will be a comprehensive, cross-sectional study conducted in approximately 60 individuals (or representative parents of patients) affected by ENPP1 deficiency and the acute form of ABCC6 deficiency. All study participants will complete the RSVP, PRO tools and upload a proof of disease form, followed by an interview conducted by a trained interviewer. It is estimated that each respondent will need up to 60 minutes for the entire process; 20 minutes to complete the RSVP, PRO tools and to upload proof of diagnosis of ENPP1 deficiency or the acute form of ABBC6 deficiency, and approximately 40 minutes to complete the interview and address any follow-up questions if needed.
- Conditions
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets Type 2
- Keywords
- ENPP1 deficiency and ABCC6 deficiency
- Medical subject headings
- Arterial calcification of infancy
What is being measured
The primary outcome is the main question the study is designed to answer.
To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing
The burden of disease through the eyes/voice of the patient and or caregiver will be collected and analyze for improved understanding
Measured: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
To collect information regarding disease burden, in the patient's / families own terms
Data will be collected in terms used by the patient and or caregiver
Measured: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies.
Data will be collected and analyzed to be able to draw meaningful conclusions regarding burden of disease in the voice of patients and caregivers
Measured: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 May 2020
- Study start6 May 2020
- Primary completion30 Sep 2020
- Study completion30 Sep 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Generalized Arterial Calcification in InfancyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Other
- Enrolment
- 38 participants (actual)
Sponsor and investigators
- Lead sponsor
- Inozyme Pharma
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- GACI Global, Engage Health Inc.
- Responsible party
- Sponsor
- Investigators
- Pedro Huertas, MD, Principal investigator, Inozyme Pharma
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04372446
- Sponsor's protocol ID
- INZ701-004
- Status last verified
- Mar 2021
- First submitted
- 13 Apr 2020
- Last updated
- 1 Apr 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Apr 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency Through the Eyes of Patients and Parents; Burden of Illness Perspectives From Patients and Parents Who Speak English, French or German
- ClinicalTrials.gov ID
- NCT04372446
- Acronym / sponsor ID
- INZ701-004
- Conditions
- Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets Type 2
- Keywords
- ENPP1 deficiency and ABCC6 deficiency
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 38 participants (actual)
- Lead sponsor
- Inozyme PharmaIndustry (pharma, biotech, devices)
- Collaborators
- GACI Global, Engage Health Inc.
- Study start
- 6 May 2020 (actual)
- Primary completion
- 30 Sep 2020 (actual)
- Study completion
- 30 Sep 2020 (actual)
- First posted
- 4 May 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To date, the investigators lack characterization of, the burden of, and the systemic progression of disease in ENPP1 deficiency and ABCC6 deficiency from a patient and/or parent perspective. This study aims to document this characterization, progression as well as the burden of disease. Link to the study registration-
https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=8252n62
Detailed description
This will be a comprehensive, cross-sectional study conducted in approximately 60 individuals (or representative parents of patients) affected by ENPP1 deficiency and the acute form of ABCC6 deficiency. All study participants will complete the RSVP, PRO tools and upload a proof of disease form, followed by an interview conducted by a trained interviewer. It is estimated that each respondent will need up to 60 minutes for the entire process; 20 minutes to complete the RSVP, PRO tools and to upload proof of diagnosis of ENPP1 deficiency or the acute form of ABBC6 deficiency, and approximately 40 minutes to complete the interview and address any follow-up questions if needed.
Study design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 60 participants across four groups; person or parent/legal guardian affected by ENPP1 (GACI or ARHR2) or the acute form of ABCC6 def. described below; * Acute infantile ENPP1 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased) * Acute infantile ABCC6 def. (due to the high infant mortality, this group likely to include parents of affected children, both living and deceased) * Progressive pediatric ENPP1 def. who are still growing (note; due to the age of those who are still growing, this group is likely to include parents of affected children) * Adult ENPP1 def. who are no longer growing (note: due to the age of those who are no longer growing, this group is likely to include both patients > age 18 years and parents of affected children who are < age 18 years or who are unable to answer for themselves)
Key inclusion criteria (6 listed)
- Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older
- The parent/caregiver of a patient who has been diagnosed with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency. Please note, parents/caregivers of patients with ENPP1 deficiency who have passed away may participate
- Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided
- Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.
- Able to grant informed consent
Key exclusion criteria (1 listed)
- Inability to meet any of the inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing
Time frame: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
The burden of disease through the eyes/voice of the patient and or caregiver will be collected and analyze for improved understanding
To collect information regarding disease burden, in the patient's / families own terms
Time frame: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
Data will be collected in terms used by the patient and or caregiver
To build a foundation of evidence to contribute to the dossier, used for many purposes, including reimbursement and regulatory bodies.
Time frame: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.
Data will be collected and analyzed to be able to draw meaningful conclusions regarding burden of disease in the voice of patients and caregivers
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Apr 2021.
- Registration link to participate in the surveyLink provided by the sponsor.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Pedro Huertas, MD principal investigator
Inozyme Pharma
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Generalized Arterial Calcification in Infancy and Autosomal Recessive Hypophosphatemic Rickets Type 2, run by Inozyme Pharma at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Apr 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To improve the understanding of the characterization and burden of disease in ENPP1 deficient, and acute ABCC6 deficient, patients who are still growing and those who are done growing (time frame: Data will be collected during a 45 minute interview. This will be a patient or parent report of events that occurred from birth to the patient's current age which will differ for all respondents.). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Apr 2021.