Is NCT07432880 recruiting in Philadelphia, PA?

Yes, NCT07432880 is currently recruiting participants at its Philadelphia, PA location. This methylmalonic acidemia (mma) clinical trial is actively enrolling qualified participants.

How do I join the methylmalonic acidemia (mma) clinical trial in Philadelphia?

To join this clinical trial in Philadelphia, complete the eligibility form on this page. A study coordinator will contact you to discuss next steps and determine if you qualify.

Is participation in this Philadelphia clinical trial free?

Yes, all study-related care is provided at no cost to qualified participants. Many studies also offer compensation for time and travel expenses.

Methylmalonic Acidemia (MMA) Clinical Trial in Philadelphia, PA

About This Methylmalonic Acidemia (MMA) Study in Philadelphia

Methylmalonic Acidemia (MMA) is a severe and rare condition that affects how the body turns food into energy. In people with MMA, the body is missing or has a very low activity of a specific protein (an enzyme called methylmalonyl-CoA mutase (MMUT)) needed to break down certain proteins and fats in everyday food. Because this process does not work properly, a harmful substance called methylmalonic acid builds up in the blood and tissues, causing damage in the body. Most people with MMA have an altered MMUT gene, which affects the enzyme methylmalonyl-CoA mutase. MMA often appears in infancy or early childhood, but some people are diagnosed later. MMA affects approximately 1 in every 100,000 babies born and primarily impacts the liver, brain and kidneys. MMA poses significant challenges as it can result in complications such as dangerous acid levels in the blood, problems with the brain and nerves, visions problems, problems with how the pancreas, liver, and the kidneys work, as well as growth and development delays. The main purpose of this observational study that tracks how the disease develops over time is to gather necessary data and evidence to confirm which signs in the body and blood test results can reliably show disease activity related to MMA. These confirmed signs and blood test results will be used for future research into developing new treatments for MMA. The data will be collected from participants with severe symptoms with and without liver transplant.

Sponsor: Genespire Srl

Who Can Participate

Inclusion Criteria

Aged ≤16 years at screening visit

With or without previous liver (or combined liver/kidney) transplantation at time of screening (note: number of transplanted participants capped at n=15) 3. Confirmed laboratory diagnosis of Isolated MMA caused by mutations in the MMUT gene (NOTE: if a historical genetic mutational analysis report was available at Screening visit but was not from a CLIA/ISO15189 approved laboratory, a confirmatory sample will be taken during the study. However the original lab report will be adequate for study eligibility consideration).. 4\. Severe MMA phenotype.

For untransplanted participants, all of the following criteria (a-c) must be met to qualify as "severe" MMA phenotype:

Serum methylmalonic acid (sMMA) level of \>100 µmol/L at the Screening visit

An unscheduled ER visit, hospitalization or requirement for use of the sick day diet regimen in the 12 months prior to the screening visit

Considered to potentially require future liver transplantation to improve metabolic stability in accordance with MMA transplantation guidelines (Baumgartner 2014, Forny 2021, Sen 2023)

For participants with previous liver or combined liver and kidney transplantation, the phenotype of the participant will be judged by the Investigator to be severe if both of the following were applicable prior to transplantation:

Pre-transplant serum methylmalonic acid (sMMA) level of \>100 µmol/L AND

Transplantation was conducted to improve metabolic stability in accordance with MMA transplantation guidelines (Baumgartner 2014, Forny 2021, Sen 2023). NOTE: sMMA pre-transplant measure must have been obtained within 6 months prior to transplant. An alternative blood MMA concentration may be used (e.g. plasma MMA, or dry blood spot), if sMMA is unavailable. Details of the assay used must be provided and additional samples will be collected during the study to allow comparison to sMMA results.

Exclusion Criteria

Participant/parent/legal guardian/caregiver not willing to consent to participate

Current participation in another interventional or therapeutic study

Prior participation in a gene therapy clinical trial including mRNA therapy

Participants who, in the opinion of the Site Investigator, would be unable or unsuitable to participate in the demands of the study, for example but not limited to participants unable to travel to protocol study visits or participants under palliative care.

For participants who are post-liver transplant only, participant will be excluded if no prior pre-liver transplant measurements of blood MMA are available.

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Philadelphia?

Yes, this clinical trial (NCT07432880) has an active research site in Philadelphia, PA that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Methylmalonic Acidemia (MMA) Treatment Options in Philadelphia, PA

If you're searching for methylmalonic acidemia (mma) treatment options in Philadelphia, PA, this clinical trial (NCT07432880) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Philadelphia research site is actively enrolling participants for this clinical trial. You'll receive care from experienced methylmalonic acidemia (mma) specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all methylmalonic acidemia (mma) clinical trials near you to find additional studies recruiting in your area.

Methylmalonic Acidemia (MMA) Clinical Trial in Philadelphia, PA

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