Comprehensive Care for Lysosomal Storage Disorders

Lysosomal storage disorders impact numerous body systems, which can make management of these conditions overwhelming for patients and families. The Lysosomal Storage Disorder Clinic at Cincinnati Children’s will help coordinate appointments among all specialties, ensuring that the appropriate care is being received at the right time.

Our clinic, part of the Division of Human Genetics, follows both children and adults. You will have access to providers in genetics, neurology, cardiology, ENT, ophthalmology, psychiatry, orthopaedics, pulmonary medicine and bone marrow transplant who have expertise in lysosomal storage disorders.

We specialize in a complex group of genetic conditions that includes:

• Fabry disease
• Mucopolysaccharidosis (MPS)
  • Type I (Hurler syndrome, Hurler-Scheie or Scheie syndrome)
  • Type II (Hunter syndrome)
  • Type III (Sanfilippo syndrome)
  • Type IV (Morquio syndrome)
  • Type VI (Maroteaux Lamy syndrome)
  • Type VII (Sly syndrome)
• Mucolipidosis (ML)
  • ML II (I-cell disease), III and IV
• Pompe disease
  • Infantile onset Pompe disease (IOPD)
  • Late onset Pompe disease (LOPD)
• Gaucher disease
  • Types 1, 2 and 3
• Niemann Pick disease
  • Type C (NPC)
  • Types A, B and A/B or acid sphingomyelinase deficiency (ASMD)
• Cholesterol ester storage disease (CESD) and Wolman syndrome
• Krabbe disease
• Galactosialidosis
• Alpha mannosidosis

We understand that families affected by rare genetic diseases can feel very alone. We work with you and your family to help you with some of the challenges people with rare diseases face at school, at work and with insurance. We can help you connect with various support organizations and other families with similar conditions. 

Treatments 

Several lysosomal storage conditions have FDA-approved therapies. If your rare disease has a medication available, we will work with you to determine if it is recommended that you or your child begin treatment. Treatments can include enzyme replacement therapy, chaperone therapy and substrate reduction therapy. We can help you get access to treatment and address barriers to treatment.

Research

We have many active clinical trials at Cincinnati Children’s for various lysosomal storage disorders, including enzyme replacement therapy, chaperone therapy and gene therapy. Patients seen in our clinic may have the opportunity to participate in research studies or clinical trials that can help us better understand the conditions and can contribute to the discovery of future therapies.