Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia (JUMP)

December 20, 2023 updated by: HemoShear Therapeutics

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

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.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

11

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Canada
      • Remote, Canada
        • AllStripes
  • United Kingdom
      • Remote, United Kingdom
        • AllStripes
  • United States
    • California
      • San Francisco, California, United States, 94551
        • AllStripes

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Approximately 120 participants will be enrolled from the United States, Canada, and the United Kingdom.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Methylmalonic Acidemia (MMA)
Approximately 60 subjects with Methylmalonic Acidemia
Other: Registry
Observational (Registry)
Propionic Acidemia (PA)
Approximately 60 subjects with Propionic Acidemia
Other: Registry
Observational (Registry)

What is the study measuring?

Primary Outcome Measures

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.
Time Frame: 5 years
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

HemoShear Therapeutics

Collaborators

Prometrika, LLC
AllStripes Research Inc.
Genome Medical

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 27, 2021

Primary Completion (Actual)

October 20, 2023

Study Completion (Actual)

October 20, 2023

Study Registration Dates

First Submitted

June 27, 2022

First Submitted That Met QC Criteria

June 27, 2022

First Posted (Actual)

June 30, 2022

Study Record Updates

Last Update Posted (Estimated)

December 27, 2023

Last Update Submitted That Met QC Criteria

December 20, 2023

Last Verified

September 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HST21-NH03

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

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 register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Propionic Acidemia

Clinical Trials on Registry

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Saint Lucia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe