Researchers have discovered that infusing umbilical cord blood has safely and effectively treated 44 children born with various non-cancerous genetic diseases, including sickle cell disease, Thalassemia, Hunter syndrome and Krabbe disease. The study is the largest trial of its kind to date.
Instead of creating individual therapies for each rare disease, the aim of the study was to create a universal treatment with minimal risk to patients with different rare genetic disorders.
Whilst importance has been placed on developing new technologies to treat different diseases, they are often not available at most treatment centres. That’s why the research team at UPMC Children’s Hospital of Pittsburgh wanted to develop a “more robust, readily applicable” treatment that will remain significantly less expensive.
The great thing about umbilical cord blood is that it is a readily available source of stem cells that can be easily collected after birth. The collection procedure is completely non-invasive, quick and safe, making it an appealing and highly valuable resource for clinical trials such as this one.
According to the researchers at UPMC Children’s Hospital of Pittsburgh, “no previous studies using stem cells in treatments for metabolic, immune or blood disorders have shown such high levels of safety, efficacy or broad applicability”.
What did the study entail?
In this study, all participants received an intravenous injection of banked cord blood. The cord blood was donated from the umbilical cord and placentas of healthy babies after birth and frozen.
The trial’s participants first received a low dose of chemotherapy and immunosuppressant drugs to allow some room for the donor cells to be infused into their body. They then received their first infusion of cord blood to help kick start the immune system. Over the next few weeks, the participants received another infusion of cord blood and were then assessed.
What were the results?
30 of the 44 children in the study had metabolic disorders, including leukodystrophies – a group of rare, progressive, metabolic diseases which affect the brain, spinal cord and other peripheral nerves resulting in abnormal development or destruction of the brain. Metabolic disorders can lead to malfunctioning enzymes which causes the build-up of harmful toxins in the body.
All 30 children showed progressive symptoms of neurodevelopmental delays before the trial took place. However, within just one year of receiving cord blood, the enzyme levels of all 30 children returned to normal and the progression of abnormal development of the brain came to a halt.
Some of the children even began to gain new skills as a result of the cord blood infusion.
What are genetic disorders?
A genetic disorder is a disease that is caused by a change, or mutation, in a person’s DNA. Genetic disorders can be caused by a mutation in one gene, mutations in multiple genes, by a combination of gene mutations and environmental factors, or by damage to chromosomes.
Some genetic disorders are caused by mutations that are inherited from the parents and are present in a baby at birth, such as sick cell disease, thalassimia and haemophilia. Other genetic orders are caused by acquired mutations that may occur sometime in a person’s life, which are not inherited from a parent.
Common conditions of metabolic disorders, such as leukodystrophies, are typically deemed fatal within just a few years of being diagnosed. However, more than 90% of leukodystrophy patients in this study were still alive and well three years after receiving their cord blood treatments.
The division director of cellular therapies at UPMC Children’s Hospital commented on the results of the study: “We designed an approach now proven to be efficacious for at least 20 diseases. And we believe it might be effective for many, many more.”
The trial’s results have been published in “Blood Advances”. Since then, the research team have successfully used the same technique of cord blood infusions to treat additional diseases, including adults with other rare genetic disorders.
Umbilical cord blood and genetic disorders
Today, umbilical cord blood is routinely used in treatments for over 80 different conditions and diseases, including cancers, blood disorders and immune disorders. A large proportion of the diseases on this list are inherited genetic diseases, including the following:
- Sickle-cell anaemia
- Acute myeloid leukaemia
- Hunter syndrome
- Fanconi anaemia
- Diamond-Blackfan anaemia
- Krabbe disease
- Severe combined immunodeficiency
Typically, a child with a genetic disease would require a cord blood sample from a sibling or an unrelated donor. According to research, having access to a cord blood sample from a sibling is extremely beneficial as studies show that treatments using cord blood from a family member are almost twice as successful as treatments using cord blood from a donor.
At Cells4Life, we have many customers who store cord blood with us again for their second, third, or even fourth child! Storing stem cells for each of your children maximises their treatment possibilities. One child’s sample has a good chance of being suitable for their siblings to use; there is a 25% chance of it being a perfect match and a 75% of being good enough for a transplant.
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University of Pittsburgh, (2020) “Umbilical cord blood successfully treats rare genetic disorders in largest study to date”, available at:
Emily Henderson, (2020) “Umbilical cord blood safely and effectively treats children with rare genetic disorders”, available at:
Reiter et al., (2020) “Cord Blood Preservation – Frequently Asked Questions”, available at:
UCSF, (2020) “Inherited Genetic Diseases: Stem Cell Treatments”, available at: