Sahin Lab
Clinical Research
Mustafa Sahin, MD, PhD, is a pediatric neurologist and developmental neurobiologist. His lab at Boston Children’s Hospital was established in 2005. The lab is widely recognized for translational research on Tuberous Sclerosis Complex (TSC), with a particular focus on the mechanisms underlying TSC-related epilepsy and autism. Key contributions include demonstrating that mTOR inhibitors can prevent myelination defects and improve neurological and behavioral symptoms, and identifying white matter microstructure deficits in TSC patients that mirror findings in animal models.
Dr Sahin is the Director of The Multi-Disciplinary Tuberous Sclerosis Program at Boston Children’s Hospital, a team of pediatric specialists providing coordinated care for TSC patients with multi-system problems. Dr. Sahin’s clinical research focuses on mechanism-based trials aimed at improving neurocognition and reducing seizures in individuals with TSC.
Research Highlights
TSC-STEPS (NCT05104983) — Ongoing
This Phase II randomized, double-blind, placebo-controlled multi-site study evaluates the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. The study is supported by the FDA’s Office of Orphan Products Division (OOPD). Participants are enrolled between 0–6 months of age, must meet clinical and/or genetic diagnostic criteria for TSC, and have no prior history of seizures at time of enrollment. EEGs are conducted every 6 weeks for the first year after birth. This will be the first study to evaluate a targeted, disease-modifying drug therapy for preventing or delaying seizure onset in TSC using a mechanism-based therapeutic approach. Dr. Sahin serves as Principal Investigator.
• PREVeNT Trial (NCT02849457) | This Phase IIb multicenter randomized double-blind placebo-controlled trial tested whether early vigabatrin treatment in TSC infants — initiated at the first epileptiform EEG change rather than clinical seizure onset — would improve neurocognitive outcome at 24 months, as measured by the Bayley Scales of Infant and Toddler Development (Bayley-III). Of 84 infants enrolled, 56 were randomized to early vigabatrin or placebo. Results showed that preventive treatment delayed the onset and lowered the overall incidence of infantile spasms; however, drug-resistant epilepsy remained at 24 months, focal seizures remained prominent, and there was no benefit in cognitive outcomes.
• RAD001 (Everolimus) and Neurocognition Trial (NCT01289912) | This randomized, double-blind, placebo-controlled trial enrolled individuals with TSC between the ages of 6 and 21 years with IQ ≥ 60, who were stable on an anti-seizure medication regimen. The primary endpoint was improvement in neurocognitive tests, with autism, seizure frequency, and sleep habits evaluated as secondary endpoints. The trial was conducted at Boston Children’s Hospital and completed in December 2014, representing one of the first rigorous attempts to assess whether mTOR inhibition could improve cognitive function in TSC beyond its established effects on tumor reduction.
• TACERN (NCT01780441) | The TSC Autism Center of Excellence Research Network was formed in 2012 as a coalition of five research hospitals — Boston Children’s Hospital, Cincinnati Children’s Hospital Medical Center, University of Alabama at Birmingham, UCLA, and University of Texas at Houston — and received NIH funding to better understand autism in TSC and identify biomarkers that could predict which children are at higher risk of cognitive manifestations. Dr. Sahin served as a Principal Investigator. The network enrolled 138 children followed longitudinally from ages 3 to 36 months, finding a 25% prevalence of clinical ASD diagnosis at 36 months. Key findings identified that deficits in social overtures, facial expressions, and repetitive behaviors were most predictive of an ASD diagnosis. The multidisciplinary team — spanning psychology, neurology, pediatrics, medical genetics, and speech-language pathology — conducted studies on neurological status, brain structure and function, neurodevelopmental phenotype, and behavioral challenges, with major findings related to the identification of early ASD symptoms and the relationship between seizures and early development.
Collaborations
Dr Sahin is recognized as a pioneer in inventing methodologies and creating a culture of translational medicine. The Sahin Lab has invented groundbreaking process innovations that facilitate the translation of bench discoveries to patient care, a model and inspiration replicated by labs worldwide. By joining and/or leading research consortia, the impact of their work is multiplied and expanded.
Translational Neuroscience Center
The first Translational Neuroscience Center at Boston Children’s Hospital was founded by Mustafa Sahin in 2013. Today, expanded in scope and resources from outside donors, the Rosamund Stone Zander and Hansjoerg Wyss Translational Neuroscience Center (TNC) is a multidisciplinary research center dedicated to improving the lives of children and adolescents with nervous system disorders — including autism spectrum disorder, epilepsy, intellectual disability, muscular dystrophy, and rare brain conditions.
By bridging the gap between laboratory discovery and clinical application, the TNC unites world-class physicians, researchers, and industry partners to accelerate the development of new diagnostics, therapies, and treatments. Supported by seven specialized research cores — including drug discovery, genomic medicine, and biomarker platforms — the Center leverages cutting-edge tools such as stem cell-derived human neurons and comprehensive neurobehavioral assessments to advance translational science. Through close collaboration with the NIH, foundations, patient advocacy groups, and industry partners, the TNC is transforming fundamental neuroscience discoveries into real-world treatment options for children with rare and complex neurological conditions.
Developmental Synaptopathies Consortium
Mustafa Sahin is the lead Principal Investigator for the Developmental Synaptopathies Consortium (DSC). The DSC, a part of the NIH-funded Rare Diseases Clinical Research Network (RDCRN), spans 13 medical centers throughout the United States. The Consortium studies four related conditions that are caused by certain shared pathways influencing the development of brain connections or “synapses“: Tuberous Sclerosis Complex (TSC), PTEN Hamartoma Syndrome (PTHS), Phelan-McDermid Syndrome (PMS), and SynGAP1 Pathogenic Variants.
In 2025, the DSC was awarded funding for a third, five-year cycle of the RDCRN project, “Developmental Synaptopathies Associated with TSC, PTEN, SHANK3, and SynGAP1 Pathogenic Variants”.
Aligning Research to Impact Autism
Mustafa Sahin co-leads the Clinical Coordinating Center (CCC) for the Aligning Research to Impact Autism (ARIA) Initiative for the Innovative Medicine and Precision Approaches to Clinical Trials (IMPACT) Network. Shafali S. Jeste, MD is his counterpart at the University of California Los Angeles (UCLA). ARIA is a scientific initiative looking to understand and treat neurodevelopmental disorders by connecting research, new technologies and therapeutic opportunities for individuals with profound autism and those on the spectrum looking for additional support.
The ARIA IMPACT Network is designed to accelerate clinical trials for individuals with autism by bringing together an international network of sites. The CCC serves as the nucleus of the IMPACT Network helping to support study design, recruitment and enrollment, infrastructure creation, and the standardization of workflows for future clinical studies and trials.
Intellectual and Developmental Disabilities Research Centers
Mustafa Sahin is co-director of the Boston IDDRC, one of 15 Intellectual and Developmental Disabilities Research Centers. IDDRC is a network of NIH-funded “centers of excellence“ supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
IDDRC Boston accelerates cutting-edge research by providing investigators with a vibrant scientific community and premier resources within its fully integrated core services, state-of-the-art technologies and consultations with PhD-level core staff. Opportunities for collaboration with top investigators, as well as attendance at select seminars and events, enrich the culture of IDD research and investigation. As a training ground for junior investigators, IDDRC supports the next generation of researchers to ensure the continuation of robust research in the field. Reflecting the capacities of our unique research community, IDDRC Boston focuses its efforts in the areas of Genetics, Genomics and Neuroscience (basic and clinical/translational).
National Brain Gene Registry
Mustafa Sahin was a founding Principal Investigator at The National Brain Gene Registry (BGR), a collaboration between Harvard Medical School/Boston Children’s Hospital, Washington University in St. Louis, and the University of North Carolina. The BGR was originally funded by the NIH’s National Center for Advancing Translational Sciences.
Thirteen leading US research institutions participated, enrolling participants and contributing to this rich source of genotypic and phenotypic data, which has been leveraged for the delineation of multiple new and emerging disorders. This real-world dataset continues to be utilized for gene curation through the ClinGen Intellectual Disability / Autism Gene Curation Expert Panel.