Condition: Methylmalonic Acidemia (MMA) · Sponsor: Genespire Srl
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.
This description comes directly from the study's public registry record.
Gwenaelle roguet, MD · +33 0745017668 · clinical.operations@genespire.com
simon Hawkins, PhD · simon.hawkins@genespire.com
Always discuss trial participation with your own doctor first.
| CHOP (Children's hospital of Philadelphia) | Philadelphia, Pennsylvania, United States | Not Yet Recruiting |
| UPMC (Children's hospital of Pittsburgh) | Pittsburgh, Pennsylvania, United States | Not Yet Recruiting |
| OSR_San Raffaele | Milan, Italy | Not Yet Recruiting |
| OBGP (Bambino Gesu Ospedale Pediatrico) | Roma, Italy | Not Yet Recruiting |
| SJD_San Joan de Deù Children's Hospital | Barcelona, Spain | Not Yet Recruiting |
| Hospital Universitario 12 de Octubre | Madrid, Spain | Not Yet Recruiting |
| GOSH NHS (Great Ormond Street Hospital for Children) | London, United Kingdom | Recruiting |
| Saint Mary's Hospital | Manchester, United Kingdom | Not Yet Recruiting |
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Source record: clinicaltrials.gov/study/NCT07432880