Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

Autosomal Recessive Hypophosphatemic Rickets Type 2 Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04372446
• Other study ID #: INZ701-004
• Status: Completed
• Start date: May 6, 2020
• Est. completion date: September 30, 2020

Study information

• Verified date: March 2021
• Source: Inozyme Pharma
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. Link to the study registration-

https://www.engagehealth.com/survey/TakeSurvey.aspx?SurveyID=8252n62

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 38
• Est. completion date: September 30, 2020
• Est. primary completion date: September 30, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

1. Participant must be a person with ENPP1 deficiency or the acute infantile form of ABCC6 deficiency who is 18 years or older

2. 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

3. Confirmed diagnosis of ENPP1 deficiency or ABCC6 deficiency with written proof of disease provided

4. Ability to participate in the RSVP and interview in German, French or English, irrespective of country of residence.

5. Able to grant informed consent

6. Willing to participate in a 40-to-60-minute telephone interview, including follow up questions (if necessary)

Exclusion Criteria:

• Inability to meet any of the inclusion criteria

Related Conditions & MeSH terms

• Autosomal Recessive Hypophosphatemic Rickets Type 2
• Familial Hypophosphatemic Rickets
• Generalized Arterial Calcification in Infancy
• Rickets

Locations

Country	Name	City	State
United States	Engage Health	Eagan	Minnesota

Sponsors (3)

Lead Sponsor	Collaborator
Inozyme Pharma	Engage Health, GACI Global

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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.
Primary	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	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.
Primary	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	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.

External Links

•   Registration link to participate in the survey