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Mevalonic aciduria: Does stem cell transplant fully cure disease?
Ann Marie Szymanski1, Blachy Dávila Saldaña2, Carlos R Ferreira3
1Division of Pediatric Rheumatology, Children's National Health System, Washington, DC, USA.
Abstract:
MA is a rare, autosomal recessive disorder characterized by episodes of inflammation and periodic fevers. In its most severe form, it can result in facial dysmorphism, growth inhibition, ataxia, liver dysfunction, intellectual disability, and at times can be fatal. A number of case reports exist stating that SCT is curative in these patients. We present the case of a patient diagnosed with MA at birth, who underwent SCT at the age of 14 months with intent to cure. She achieved complete engraftment and urine mevalonate became undetectable. However, 18 months following transplant, she developed frequent episodes of fevers, rashes, arthritis, and a rising urinary mevalonate. She was subsequently diagnosed with relapse. She now requires treatment with steroids and canakinumab to manage her disease. This case is the first report of disease relapse following transplant for MA. It runs contrary to prior reports that SCT is fully curative of MA and suggests that transplant may instead provide a means of decreasing disease severity without entirely eradicating the condition.
Insights
This study reports the first case of Mevalonic Aciduria (MA) relapse after stem cell transplant (SCT). Contrary to prior beliefs, SCT may reduce MA severity rather than offer a complete cure.
Area of Science:
- Genetics and rare diseases
- Immunology and inflammation
- Hematopoietic stem cell transplantation
Background:
- Mevalonic Aciduria (MA) is a rare autosomal recessive inflammatory disorder.
- Severe MA presents with dysmorphism, growth inhibition, ataxia, liver dysfunction, and intellectual disability.
- Stem cell transplant (SCT) has been suggested as a curative treatment for MA.
Observation:
- A patient diagnosed with MA at birth underwent SCT at 14 months.
- Post-transplant, the patient achieved engraftment with undetectable urine mevalonate.
- 18 months later, the patient experienced disease relapse with fevers, rashes, and arthritis.
Findings:
- The patient relapsed despite successful engraftment and initial normalization of urine mevalonate.
- Relapse required treatment with steroids and canakinumab.
- This is the first reported case of MA relapse after SCT.
Implications:
- Disease relapse challenges the notion of SCT as a definitive cure for MA.
- SCT might alleviate MA symptoms but not eradicate the condition entirely.
- Further research is needed to understand long-term outcomes and refine treatment strategies for MA post-SCT.
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