International Rett Syndrome Foundation Funds First Longitudinal Presymptomatic Biomarker Study in Rett Syndrome

IRSF investment positions organization at the forefront of early-stage Rett research as genomic medicine reshapes rare disease diagnosis.

CINCINNATI, OH, UNITED STATES, February 24, 2026 /EINPresswire.com/ — The International Rett Syndrome Foundation (IRSF) today announced an important investment in the PRISM Study (Presymptomatic Rett Biomarkers Study of MECP2 Mutations), the first longitudinal study specifically designed to identify presymptomatic biomarkers of Rett syndrome in infants and toddlers with pathogenic MECP2 variants.

Funded through IRSF’s Centers of Excellence research program, the 2-year award supports investigators at the University of North Carolina (UNC) Rett Syndrome Clinic, an IRSF-designated Center of Excellence, in examining early brain development and behavior before traditional clinical diagnosis is possible.

As whole genome sequencing and expanded newborn screening become more integrated into clinical care, families are increasingly learning that their child carries a mutation in the MECP2 gene before symptoms clearly emerge. While genetic testing can identify risk, it cannot predict how the condition will unfold. This creates an environment where there could be significant uncertainty for families and clinicians.

“This is a defining moment for Rett research,” said Laura Hameed, Chief Executive Officer at IRSF. “Genetic testing is changing when families receive answers, and our responsibility is to ensure science keeps pace. At IRSF, our dual mission to accelerate research and strengthen family support is inseparable — progress in one depends on the other. Through PRISM, we are investing in the scientific infrastructure needed to define early biological markers of Rett syndrome, creating earlier clarity for families and a stronger foundation for future therapeutic advances.”

Addressing a Critical Scientific Gap
Rett syndrome is most often caused by a pathogenic variant in the MECP2 gene on the X chromosome. While most individuals with classic Rett syndrome carry an identifiable MECP2 mutation, the presence of a mutation alone does not define Rett syndrome. Some individuals develop classic features of Rett syndrome, while others experience milder or variable neurodevelopmental outcomes, and others yet may be asymptomatic throughout life.
This variability creates a gap between genetic identification and clinical understanding.

“As genomic sequencing becomes part of routine care, we are identifying MECP2 mutations earlier than ever,” said Dr. Dominique Pichard, Chief Scientific & Medical Officer at IRSF. “But genetics alone does not tell us how a child’s development will unfold. PRISM was designed to address that gap by identifying objective biological and behavioral markers that can help clarify early developmental risk. This work reflects the field’s responsibility to make early genomic information more meaningful for families and clinicians.”

The PRISM Study enrolls male and female infants and toddlers who have been genetically identified with a pathogenic MECP2 variant. Participants visit the UNC Rett Center of Excellence every three to six months during early childhood, undergoing non-invasive EEG (electroencephalography) assessments and standardized developmental evaluations. Age-matched children without MECP2 mutations are also enrolled to provide critical comparison data.

Studying Rett Syndrome Before Symptoms Emerge
Unlike prior Rett research, which has largely focused on children after clinical diagnosis, PRISM is designed to examine brain development and behavior before, during, and after the earliest potential symptoms.

Studying infants before clinical symptoms emerge gives us a rare and powerful window into how Rett syndrome unfolds at its earliest stages,” said Drs. Mark Shen, Elizabeth Jalazo, and Jessica Girault of the University of North Carolina, Co-Principal Investigators of the PRISM Study. “By following children longitudinally and using sensitive brain and developmental measures, we hope to define early biological signals that can ultimately inform how therapies are developed and evaluated. Understanding this window is essential as the field moves toward earlier and more targeted interventions.

Building the Infrastructure for the Next Era of Rett Research
IRSF’s investment in PRISM reflects its broader strategy to strengthen research infrastructure through its Centers of Excellence network and to anticipate the evolving needs of the Rett community.

By funding the first longitudinal presymptomatic biomarker study in Rett syndrome, IRSF is helping position the field at the forefront of precision genomic medicine. The findings from PRISM are expected to inform future research, clinical trial design, and early intervention strategies.

For more information about the PRISM Study, visit rettsyndrome.org/prism_study.

About Rett Syndrome
Rett syndrome is a rare genetic neurological disorder that occurs most often in girls (1 in 10,000 births), more rarely in boys, and leads to severe impairments, affecting nearly every aspect of life. It is usually recognized in children between 6 and 18 months old as they begin to miss developmental milestones or lose abilities they have gained, including their ability to speak, walk, eat, and even breathe. The hallmark of Rett syndrome is near-constant repetitive hand movements while awake, and individuals with Rett may experience seizures, scoliosis, breathing issues, GI issues, and more. Rett syndrome is not a degenerative disorder; individuals can live to middle age or beyond.

About International Rett Syndrome Foundation (IRSF)
As the leading Rett syndrome research and advocacy organization, the International Rett Syndrome Foundation (IRSF) builds upon its 40-year commitment to breakthrough discoveries and life-changing advancements in research toward a cure while supporting families affected by Rett syndrome. Through its legacy foundation pioneers, IRSF has invested over $60M in research leading to identifying Rett syndrome’s cause, demonstrating Rett syndrome is reversible in mice, and supporting the clinical trials that led to the first-ever FDA-approved treatment. IRSF fights for families living with Rett syndrome and a world without it. Learn more at rettsyndrome.org.

Meghan Cordeiro
International Rett Syndrome Foundation
mcordeiro@rettsyndrome.org

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