Ignite Creation Date:
2024-05-06 @ 5:47 PM
Last Modification Date:
2024-10-26 @ 2:36 PM
Study NCT ID:
NCT05438485
Status:
TERMINATED
Last Update Posted:
2023-12-27
First Post:
2022-06-27
Brief Title:
Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
Sponsor:
HemoShear Therapeutics
Organization:
HemoShear Therapeutics
Study Overview
Official Title:
JUMP Journey to Understand Methylmalonic Acidemia and Propionic Acidemia - a Natural History Study
Status:
TERMINATED
Status Verified Date:
2022-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
The decision to terminate the study was based on business considerations by the Sponsor
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
JUMP
Brief Summary:
The JUMP Journey to Understand MMA and PA Study is being conducted by HemoShear Therapeutics and AllStripes a rare disease online research platform JUMP is designed to accelerate understanding of the natural course of methylmalonic acidemia MMA and propionic acidemia PA disease and treatment for families researchers clinicians and industry
The study will collect and provide patient medical record information from multiple institutions for families to access in one place at no cost AllStripes will remove identifying information like name and address from these medical records and aggregate this data for the HemoShear team to better understand the medical experience and progression of MMA and PA over time In addition academic researchers healthcare practitioners and patient advocacy groups can apply to use the collective patient community data to answer specific research questions at no cost
HemoShear is collecting natural history data on MMA and PA because the company needs insight into the real-world experience of many patients to better understand the disease and be able to scientifically demonstrate whether the potential new treatment they are developing is effective in improving outcomes
This natural history study will include retrospective and prospective components The retrospective component will consist of data abstracted from primarily electronic health records eHR and some paper records The prospective component will include ongoing collection of medical records from enrolled participants and participants may opt in to complete health-related questionnaires and an optional genetic testing sub-study
After signing informed consent participants or their legal guardians will grant permission to AllStripes to collect their health records for data abstraction
Participants may opt into an optional no cost genetic testing sub-study The JUMP Journey to Understand MMA and PA sub-study will help assess whether the genetic variant of the affected person may relate to disease severity and treatment response Getting genetic testing will enable participants to understand the genetic mutation that causes their type of methylmalonic acidemia MMA or propionic acidemia PA Knowing the genetic mutations whether from the MMUT MMAA or MMAB gene or PCCA or PCCB can help the impacted person their caregivers and healthcare professionals understand the potential course of disease and select approaches to better manage the disease The additional information will enable HemoShear and AllStripes to understand whether different genetic variants impact the disease journey and outcomes
A separate informed consent will be obtained for participating in the sub-study
The study will collect and provide patient medical record information from multiple institutions for families to access in one place at no cost AllStripes will remove identifying information like name and address from these medical records and aggregate this data for the HemoShear team to better understand the medical experience and progression of MMA and PA over time In addition academic researchers healthcare practitioners and patient advocacy groups can apply to use the collective patient community data to answer specific research questions at no cost
HemoShear is collecting natural history data on MMA and PA because the company needs insight into the real-world experience of many patients to better understand the disease and be able to scientifically demonstrate whether the potential new treatment they are developing is effective in improving outcomes
This natural history study will include retrospective and prospective components The retrospective component will consist of data abstracted from primarily electronic health records eHR and some paper records The prospective component will include ongoing collection of medical records from enrolled participants and participants may opt in to complete health-related questionnaires and an optional genetic testing sub-study
After signing informed consent participants or their legal guardians will grant permission to AllStripes to collect their health records for data abstraction
Participants may opt into an optional no cost genetic testing sub-study The JUMP Journey to Understand MMA and PA sub-study will help assess whether the genetic variant of the affected person may relate to disease severity and treatment response Getting genetic testing will enable participants to understand the genetic mutation that causes their type of methylmalonic acidemia MMA or propionic acidemia PA Knowing the genetic mutations whether from the MMUT MMAA or MMAB gene or PCCA or PCCB can help the impacted person their caregivers and healthcare professionals understand the potential course of disease and select approaches to better manage the disease The additional information will enable HemoShear and AllStripes to understand whether different genetic variants impact the disease journey and outcomes
A separate informed consent will be obtained for participating in the sub-study
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None