On a Sunday afternoon in November 2017, nine-year-old Tanay Suri and his sister Tanisha were playing in a park near their home in India when something went very wrong.
“Tanay said he didn’t feel well, and he was behaving strangely,” his father, Nitin, remembered. “He stopped responding to our questions and was standing very still, staring. We were very concerned.”
Tanay’s symptoms continued, and the family took him to the hospital. The pediatrician on site called for a neurology consult, and Tanay underwent an MRI. The neurologist was concerned that Tanay might have a rare genetic disorder called adrenoleukodystrophy (ALD). More exams were ordered, and within two weeks, the Suri family received the nightmarish news: Tanay tested positive for the cerebral form of ALD.
Adrenoleukodystrophy (ALD) is a rare genetic disorder that is more common in males than females. People with ALD cannot break down molecules known as very-long-chain fatty acids. These molecules build up in the body and cause damage to the adrenal gland in 95 percent of affected males, which leads to problems with the body’s salt balance and blood pressure that can result in seizures or even death. The cerebral form of ALD—also known as cALD—accounts for about 40 percent of cases. This form of the disease destroys a protective coating called myelin around the brain’s neurons and causes progressive neurological degeneration.
Symptoms of this form of ALD often appear in childhood and may initially include behavioral problems, such as hyperactivity, difficulty paying attention, or issues with coordination. Eventually, symptoms may grow to include loss of muscle control, blindness and deafness, and dementia.
Tanay’s parents searched desperately for a viable treatment across India. After extensive research, they learned that a blood and marrow transplant (BMT) can halt the progression of ALD, but the family was unable to find a matching donor. The family prepared to try a half-match transplant in Bangalore using Nitin’s bone marrow.
On the eve of his bone marrow donation procedure, Nitin learned about a clinical trial going on in the United States at University of Minnesota Masonic Children’s Hospital that used gene therapy as an alternative to a blood and marrow transplant to treat cerebral ALD. Nitin emailed University of Minnesota Health Pediatric Blood and Marrow Physician Troy Lund, MD, to find out whether Tanay met the criteria for the clinical trial.
In January, 2018, Tanay came to the Leukodystrophy Center at University of Minnesota Masonic Children’s Hospital’s and was one of the last children enrolled in the trial. Pediatric Blood and Marrow Transplant Physician Paul Orchard, MD, was instrumental in helping Tanay gain access to the trial.
“Tanay didn’t understand how serious his disease was,” his mother, Sweta, said. “He took his treatment in stride and was happy to be going to the U.S. for this adventure.”
Patients and families from all over the world come to the University of Minnesota for ALD treatment. Our team has treated more cerebral ALD patients than anywhere else in the world. Our blood and marrow transplant (BMT) program, one of the largest and oldest centers of its kind, has performed over 160 BMT procedures for ALD patients, more than any other BMT center worldwide.
University of Minnesota Health also recently announced the expansion of the Adrenoleukodystrophy Comprehensive Clinic, within the Leukodystrophy Center at University of Minnesota Masonic Children’s Hospital. The clinic allows patients to access all of the specialists they need, working together in a single location at University of Minnesota Masonic Children’s Hospital. The clinic brings together specialists in endocrinology, neurology, blood and marrow transplant, genetic counseling, neuropsychology, neuroradiology, pharmacology, and physical and occupational therapy.
Tanay’s clinical trial revolved around gene therapy, rather than a BMT.
“Gene therapy is distinct from BMT in a couple of important ways,” Lund said. “They are both transplants, and both involve giving drugs that wipe out the patient’s current bone marrow completely. To replace the bone marrow, we can use donor stem cells from another person. In some instances, we can instead use the patient’s own cells—which is what gene therapy allows us to do.”
The BMT team at University of Minnesota Masonic Children’s Hospital harvested Tanay’s own cells, all of which had a damaged copy of the ABCD1 gene—the cause of his ALD. Tanay’s cells were then gene edited; they received a normal copy of the ABCD1 gene. Those edited cells were then transplanted back into Tanay’s body.
“The transplant gives him healthy bone marrow, with a normal copy of the ABCD1 gene, in the hope that it will stop his ALD from going any further,” Lund said. “Our goal is to slow progression disease dramatically or to halt progression completely.”
Tanay’s family is grateful for the care Tanay received at University of Minnesota Masonic Children’s Hospital.
“I could write a book on the quality of care we got, both inpatient and outpatient. The doctors, nurses, and staff are very professional, caring, and understanding,” Nitin said. “In addition to the treatment, Tanay and our family were engaged by teams such as Child-Family Life Services, social work, and the on-premise school. Many of our worries disappeared when we saw the quality of care we got.”
They have high praise for Lund as well. “There can’t possibly be anyone better than him,” Sweta said. “He is so good with kids, and he is never in a hurry.”
“Tanay wants to be a doctor now, just like Dr. Lund,” Nitin said.
Tanay is looking forward to the future with the energy and positivity he has always had. He wants to return to school and sports activities at home. But first, he and his family had a special birthday celebration: Tanay recently turned 10 and celebrated his birthday in the United States.