Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia

JUMP, Journey to Understand Methylmalonic Acidemia and Propionic Acidemia - a Natural History Study

Sponsors

Lead Sponsor: HemoShear Therapeutics

Collaborator: AllStripes Research Inc.
Prometrika, LLC
Genome Medical

Source HemoShear Therapeutics
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.
Overall Status Recruiting
Start Date 2021-08-27
Completion Date 2023-05-21
Primary Completion Date 2023-05-21
Study Type Observational [Patient Registry]
Primary Outcome
Measure Time Frame
Understanding of the natural course of methylmalonic acidemia (MMA) and propionic acidemia (PA) disease and treatment for families, researchers, clinicians and industry. 5 years
Enrollment 120
Condition
Intervention

Intervention Type: Other

Intervention Name: Registry

Description: Observational (Registry)

Eligibility

Sampling Method:

Non-Probability Sample

Criteria:

Inclusion Criteria: 1. Participant or participant's legal guardian must provide signed, informed eConsent/eAssent prior to releasing health records or performing any study-related procedures. 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: 1. Participant or participant's legal guardian is unable to provide complete access to medical records.

Gender:

All

Minimum Age:

N/A

Maximum Age:

N/A

Healthy Volunteers:

No
Overall Contact

Last Name: Phuong V Nguyen

Phone: 833-975-3559

Email: [email protected]

Location
Facility: Status:
AllStripes | San Francisco, California, 94105, United States Recruiting
AllStripes | Remote, Canada Recruiting
AllStripes | Remote, United Kingdom Recruiting
Location Countries

Canada

United Kingdom

United States
Verification Date

2022-06-01
Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Arm Group

Label: Methylmalonic Acidemia (MMA)

Description: Approximately 60 subjects with Methylmalonic Acidemia

Label: Propionic Acidemia (PA)

Description: Approximately 60 subjects with Propionic Acidemia

Acronym JUMP
Patient Data No
Study Design Info

Observational Model: Cohort

Time Perspective: Other

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact [email protected]. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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