Methylmalonic AcidemiaJUMPNCT05438485
Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
An observational study of Methylmalonic Acidemia and Propionic Acidemia, run by HemoShear Therapeutics at 3 sites in 3 countries.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Methylmalonic Acidemia, Propionic Acidemia
- What is being tested?
- Registry
- How many people
- 11 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 27 Aug 2021to 20 Oct 2023
- How long will I take part?
- 12 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Approximately 120 participants will be enrolled from the United States, Canada, and the United Kingdom.
Who may be able to join
- Participant or participant's legal guardian must provide signed, informed eConsent/eAssent prior to releasing health records or performing any study-related procedures.
- Confirmed diagnosis of MMA or PA.
- Reside in the US, Canada, or United Kingdom and have all medical records available for abstraction.
Who cannot join
- 1. Participant or participant's legal guardian is unable to provide complete access to medical records.
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
About this study
Official title: 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.
Read more
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.
- Conditions
- Methylmalonic Acidemia, Propionic Acidemia
- Being tested
- Registry
- Keywords
- Methylmalonic Acidemia, Propionic Acidemia, Organic Acidemia, Inborn errors of metabolism, PCCA, PCCB, Propionyl-coenzyme A carboxylase, MMUT, Methylmalonyl-CoA mutase, Metabolic disease, Genetic disease, HemoShear, Natural History Study, JUMP
- Medical subject headings
- Methylmalonic acidemia, Propionic Acidemia, Metabolism, Inborn Errors, Metabolic Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RegistryOther
Observational (Registry)
| Study group | Role | What they receive |
|---|---|---|
| Methylmalonic Acidemia (MMA) | Approximately 60 subjects with Methylmalonic Acidemia Receives: Other: Registry | |
| Propionic Acidemia (PA) | Approximately 60 subjects with Propionic Acidemia Receives: Other: Registry |
What is being measured
The primary outcome is the main question the study is designed to answer.
Understanding of the natural course of methylmalonic acidemia (MMA) and propionic acidemia (PA) disease and treatment for families, researchers, clinicians and industry.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jun 2022
- Study start27 Aug 2021
- Primary completion20 Oct 2023
- Study completion20 Oct 2023
Why it stopped: The decision to terminate the study was based on business considerations by the Sponsor.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Methylmalonic AcidemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 11 participants (actual)
- Target duration
- 12 Months
Sponsor and investigators
- Lead sponsor
- HemoShear Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- AllStripes Research Inc., Prometrika, LLC, Genome Medical
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05438485
- Sponsor's protocol ID
- HST21-NH03
- Acronym
- JUMP
- Status last verified
- Sep 2022
- First submitted
- 27 Jun 2022
- Last updated
- 27 Dec 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Dec 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- JUMP, Journey to Understand Methylmalonic Acidemia and Propionic Acidemia - a Natural History Study
- ClinicalTrials.gov ID
- NCT05438485
- Acronym / sponsor ID
- JUMP / HST21-NH03
- Conditions
- Methylmalonic Acidemia, Propionic Acidemia
- Keywords
- Methylmalonic Acidemia, Propionic Acidemia, Organic Acidemia, Inborn errors of metabolism, PCCA, PCCB, Propionyl-coenzyme A carboxylase, MMUT
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: The decision to terminate the study was based on business considerations by the Sponsor.
- Enrolment
- 11 participants (actual)
- Lead sponsor
- HemoShear TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- AllStripes Research Inc., Prometrika, LLC, Genome Medical
- Study start
- 27 Aug 2021 (actual)
- Primary completion
- 20 Oct 2023 (actual)
- Study completion
- 20 Oct 2023 (actual)
- First posted
- 30 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 12 Months
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Methylmalonic Acidemia (MMA) | – | Other: RegistryApproximately 60 subjects with Methylmalonic Acidemia |
| Propionic Acidemia (PA) | – | Other: RegistryApproximately 60 subjects with Propionic Acidemia |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Approximately 120 participants will be enrolled from the United States, Canada, and the United Kingdom.
Key inclusion criteria (3 listed)
- Participant or participant's legal guardian must provide signed, informed eConsent/eAssent prior to releasing health records or performing any study-related procedures.
- Confirmed diagnosis of MMA or PA.
- Reside in the US, Canada, or United Kingdom and have all medical records available for abstraction.
Key exclusion criteria (1 listed)
- 1. Participant or participant's legal guardian is unable to provide complete access to medical records.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RegistryObservational (Registry) | Other | Methylmalonic Acidemia (MMA), Propionic Acidemia (PA) |
Primary outcome
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
Results and safety
The study was stopped early (reason given: The decision to terminate the study was based on business considerations by the Sponsor.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Dec 2023.
- Link to information about participation in JUMPLink provided by the sponsor.
- Link to information about optional genetic testing. Only participants in JUMP will receive link to optional genetic testing.Link provided by the sponsor.
- Link to information about participation in JUMP for MMALink provided by the sponsor.
- Link to information about participation in JUMP for PALink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Methylmalonic Acidemia and Propionic Acidemia, run by HemoShear Therapeutics at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 27 Dec 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Canada, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: The decision to terminate the study was based on business considerations by the Sponsor.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Dec 2023.