Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
NCT ID: NCT05438485
Last Updated: 2023-12-27
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
TERMINATED
11 participants
OBSERVATIONAL
2021-08-27
2023-10-20
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Keywords
Explore important study keywords that can help with search, categorization, and topic discovery.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
OTHER
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Methylmalonic Acidemia (MMA)
Approximately 60 subjects with Methylmalonic Acidemia
Registry
Observational (Registry)
Propionic Acidemia (PA)
Approximately 60 subjects with Propionic Acidemia
Registry
Observational (Registry)
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Registry
Observational (Registry)
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
2. Confirmed diagnosis of MMA or PA.
3. Reside in the US, Canada, or United Kingdom and have all medical records available for abstraction.
Exclusion Criteria
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
AllStripes Research Inc.
INDUSTRY
Prometrika, LLC
INDUSTRY
Genome Medical
UNKNOWN
HemoShear Therapeutics
INDUSTRY
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
AllStripes
San Francisco, California, United States
AllStripes
Remote, Remote, Canada
AllStripes
Remote, Remote, United Kingdom
Countries
Review the countries where the study has at least one active or historical site.
Related Links
Access external resources that provide additional context or updates about the study.
Link to information about participation in JUMP
Link to information about optional genetic testing. Only participants in JUMP will receive link to optional genetic testing.
Link to information about participation in JUMP for MMA
Link to information about participation in JUMP for PA
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
HST21-NH03
Identifier Type: -
Identifier Source: org_study_id