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Stephanie Sacharow

M.D.

Director, Harvey Levy Program for Phenylketonuria and Related Conditions

Director, PAL (Phenylalanine Ammonia Lyase) Clinic

Attending Physician, Boston Children’s Hospital

Assistant Professor of Pediatrics, Harvard Medical School

Dr. Stephanie Sacharow is a medical geneticist experienced in the management of patients with a variety of genetic conditions and metabolic disease. She studied Neuroscience at Vanderbilt University prior to attending the University of Miami Miller School of Medicine, and later joining their faculty. Dr. Sacharow is board certified in Pediatrics, Medical Genetics and Medical Biochemical Genetics, and has been practicing over 15 years. She was involved with the implementation and execution of expanded newborn screening for metabolic disease for the South Florida region, and was director of the Cleft Lip and Palate team. Dr. Sacharow was also program director for the genetics training programs, and taught medical school and master’s level courses.  Dr. Sacharow was recruited to Boston Children’s Hospital/Harvard Medical School in 2015.

Dr. Sacharow is the director of the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions, and the medical director of the PAL clinic at Boston Children's Hospital. Dr. Sacharow is team member and provider for the BoLD Lysosomal Storage Disease Program. She has been involved in research studies with a focus on autism, genomic imbalances, inborn errors of metabolism and novel genes for rare disorders. Dr. Sacharow is currently principal investigator and co-investigator in multiple clinical trials for Phenylketonuria and Homocystinuria. She has expertise in the management of patients with pegvaliase (Palynziq), having been an investigator in the clinic trials leading the PAL clinic at Boston Children's Hospital, and co-author of the management guidelines for pegvaliase. She has been an invited speaker at national and international conferences to educate and share the BCH PAL program's experiences and practice improvements.

Stephanie Sacharow

M.D.

Director, Harvey Levy Program for Phenylketonuria and Related Conditions

Director, PAL (Phenylalanine Ammonia Lyase) Clinic

Attending Physician, Boston Children’s Hospital

Assistant Professor of Pediatrics, Harvard Medical School

Dr. Stephanie Sacharow is a medical geneticist experienced in the management of patients with a variety of genetic conditions and metabolic disease. She studied Neuroscience at Vanderbilt University prior to attending the University of Miami Miller School of Medicine, and later joining their faculty. Dr. Sacharow is board certified in Pediatrics, Medical Genetics and Medical Biochemical Genetics, and has been practicing over 15 years. She was involved with the implementation and execution of expanded newborn screening for metabolic disease for the South Florida region, and was director of the Cleft Lip and Palate team. Dr. Sacharow was also program director for the genetics training programs, and taught medical school and master’s level courses.  Dr. Sacharow was recruited to Boston Children’s Hospital/Harvard Medical School in 2015.

Dr. Sacharow is the director of the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions, and the medical director of the PAL clinic at Boston Children's Hospital. Dr. Sacharow is team member and provider for the BoLD Lysosomal Storage Disease Program. She has been involved in research studies with a focus on autism, genomic imbalances, inborn errors of metabolism and novel genes for rare disorders. Dr. Sacharow is currently principal investigator and co-investigator in multiple clinical trials for Phenylketonuria and Homocystinuria. She has expertise in the management of patients with pegvaliase (Palynziq), having been an investigator in the clinic trials leading the PAL clinic at Boston Children's Hospital, and co-author of the management guidelines for pegvaliase. She has been an invited speaker at national and international conferences to educate and share the BCH PAL program's experiences and practice improvements.

Recent Publications

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

Published On 2024 May 02

Journal article

Phenylketonuria (PKU) is a genetic disorder caused by deficiency of the enzyme phenylalanine hydroxylase (PAH), which results in phenylalanine (Phe) accumulation in the blood and brain, and requires lifelong treatment to keep blood Phe in a safe range. Pegvaliase is an enzyme-substitution therapy approved for individuals with PKU and uncontrolled blood Phe concentrations (>600 μmol/L) despite prior management. Aggregated results from the PRISM clinical trials demonstrated substantial and...


Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study

Published On 2023 Dec 06

Journal article

BACKGROUND: Pegvaliase has allowed many adults with phenylketonuria (PKU) to achieve acceptable blood Phe control while eating an unrestricted diet. However, little is known about potential differences in nutritional status and eating behaviors after transitioning from a phenylalanine (Phe)-restricted to an unrestricted diet. Here we assessed change in nutritional status in adults with early-treated PKU who were consuming a Phe-restricted diet (intact protein ≤0.8 g/kg/day) prior to starting...