Susan Berry
Baylor College of Medicine, TX·Medicine & Clinical Research
Organic acidemias are inherited metabolic disorders in which an enzyme that breaks down amino acids is missing or broken, so toxic byproducts build up and can trigger sudden, life-threatening metabolic crises. Expanded newborn screening — testing dried blood spots from newborns for telltale chemicals — now catches these disorders within days of birth, and with early diagnosis, nutrition management, new medications and liver transplantation, affected children are living into adulthood.
- Fields
Medicine & Clinical Research
Genetics
Public Health & Epidemiology
- Topics
organic acidemias
inborn errors of metabolism
methylmalonic acidemia
- Grants
- 1 known grant, through Aug 2030
What they work on
- Establish how often acute metabolic decompensations occur, by age and by diagnosis, across five organic acidemias: methylmalonic acidemia from methylmalonyl-CoA mutase deficiency, propionic acidemia, isovaleric acidemia, glutaric aciduria type 1 and cobalamin C disease.
- Define the incidence and progression of kidney disease in organic acidemias and relate it to patients' specific genetic variants, aggravating and alleviating factors, and response to therapy.
- Identify the frequency and spectrum of feeding difficulties and gastrointestinal complications in each disorder and assess whether routine clinical interventions improve them.
- Characterize neurodevelopmental outcomes and striatal brain injury, testing how genotype, metabolic decompensations and other clinical factors shape neurocognitive development.
- Determine how often solid organ transplantation is performed in methylmalonic and propionic acidemias, why it is chosen, and how well it works.
More about the research
That success has created a new problem: nobody has good data on what happens to these patients over decades. Kidney and heart complications have appeared that were previously unknown, and genetic testing keeps revealing milder forms that went unrecognized.
Why it matters
A growing number of experimental therapies for organic acidemias are entering phase 1/2 trials, but without solid natural history data it is hard to tell whether a treatment is working. This first U.S. multi-site natural history study focused on organic acidemias could sharpen clinical trial design, guide which patients receive transplants and when, and give families and clinicians better anticipatory guidance about kidney, heart, feeding and developmental complications.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Bridgette Lynne Kelleher
Purdue University, IN·Psychology
Deploy PANDABox, a caregiver-administered at-home telehealth assessment, in a large longitudinal cohort of 6- to 42-month-old children with and without rare neurogenetic conditions to build a natural-history dataset.
Daniel Woo
University at Buffalo, NY·Medicine & Clinical Research
Prospectively collect psychosine and galactocerebrosidase enzyme levels from dried blood spots of infants who screen positive for Krabbe disease across a multi-state referral network called BANS.
Robert J Desnick
Icahn School of Medicine at Mount Sinai, NY·Medicine & Clinical Research
Determine the safety of oral ciclopirox olamine, a repurposed antifungal acting as a pharmacologic chaperone, in adults with CEP, using an N-of-1 phase 1/2 trial with a six-month run-in and escalating doses of 2 then 4 mg/kg.
The school
Baylor College of Medicine: 38 labs on PI Pages, $881M a year on research, 115 research doctorates a year.
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