Lysosomal Storage Disorders Study

There are more than 40 known lysosomal storage disorders, which prevent enzymes from eliminating toxins from the body's cells.

The UC Irvine Health Lysosomal Storage Disorder Study program is run by a team of specialized healthcare providers, including doctors, nurses and genetic counselors, who have experience diagnosing and treating these rare disorders.

What is a lysosomal storage disorder?

Lysosomal storage disorders are caused by a change in important genetic information in a person's DNA.

This change means the body may not be able to make specific kinds of proteins, called enzymes. Each enzyme is responsible for breaking down, or digesting, a certain compound in the body. There are a group of enzymes that normally get rid of unwanted substances in the body. A lack of these enzymes leads to a lysosomal storage disorder.

When an enzyme is missing, the compound it should break down builds up in the body. This is because the body does not have a way to dispose of the compound without the enzyme. The body stores the compound in the lysosomes, small compartments within the body's cells.

Lysosomes act as the "recycling center" of each cell, breaking down unwanted material into simple products for the cell to use to build new material.

As compounds build up in the lysosomes, the cells can become damaged and unable to do their jobs. This progressive storage of materials in the lysosomes causes damage to cells and organs.

This is why it is important to work with a healthcare team familiar with the condition.

Many of these disorders are rare, but some occur more often in people of certain ethnic groups. Because these disorders can be inherited, a person's risk of passing this condition on to his or her children depends on the disease and the individual's family background. Genetics professionals can help answer questions about these disorders.

Comprehensive services offered

The complexity of lysosomal storage disorders makes it important for patients and their families to be followed by a team of healthcare providers and medical experts who are familiar with the conditions. Our specialized team of experts offers comprehensive services including:

• Consultation and evaluation: Lysosomal storage disorders are diagnosed based on the clinical features of each disorder. Sometimes there is a family history of the disorder or similar symptoms that may aid in diagnosis. Patients who are referred are asked for a full medical and family history obtained, full examination and testing, and follow-up as needed.
• Diagnostic testing: There are many specialized tests for these disorders. We will order tests to confirm and/or rule out the disorders.
• Interaction with and education of referring physicians for life-long care: Lysosomal storage disorders can affect many different organs, have a variety of symptoms and change over time. Having an expert available to work with and educate other physicians involved in your care can lead to the highest quality of care.
• Treatment and management: People with one of these disorders can be seen on a regular basis to monitor symptoms, evaluate new symptoms, manage progression, and assist with treatment if it is available.
• Genetic counseling: The genetic and hereditary implications of the different disorders are discussed with each patient and their families. They can explain the complicated genetics, as well as discuss the risks to other members of the family.
• Referral to specialists: Since many parts of the body can be affected, it takes many doctors to manage your health. We can make appropriate referrals and make sure you are placed with the right specialties for your disorder.
• Patient education and support group meetings: Lysosomal storage disorders are rare and you may feel alone. We meet with you, your family members, and healthcare professionals so that everyone can have their questions answered and feel more comfortable with the condition.
• Research updates: Our team provides up-to-date information about research.

Family meetings

We know that a lysosomal storage disorder diagnosis can be frightening. We plan meetings with you, your immediate family, extended family members, and healthcare providers involved in your care. We answer your questions, discuss what to expect as well as treatment strategies and risks to other members of the family.

Lead Researcher: Virginia Kimonis 

• Study Title: LSD Registry Program
• Purpose of Study (e.g., to evaluate a new drug for breast cancer):

The Lysosomal Storage Disease (LSD) Registry Program (including but not limited to, Gaucher, Fabry, MPS I, and Pompe Diseases) is a longitudinal, international, observational database that tracks outcomes of routine clinical practice for patients with these LSD diseases. Data collected from these physicians will represent LSD disease practice patterns under common clinical conditions. Thus, the data collected by this international, collaborative Registry will provide information to better characterize the natural history and progression of these LSD diseases, as well as the clinical responses of patients whose physicians have prescribed ERT when ERT is available. Here at UC Irvine, we will be participating in the Gaucher, Fabry, MSP I F, and Pompe Diseases’ Registries.

• Eligibility (e.g., adults on medication for high blood pressure; diabetic patients on insulin; normal, healthy adults; etc.): All patients with a confirmed diagnosis of their specific LSD disease are eligible for inclusion.

 Location (if other than UCIMC): UCIMC

• Time Commitment (e.g., three one-hour long visits in three weeks): None.
• Anticipated Benefits (if any): There are no direct benefits for participating subjects. Registry findings may provide valuable information about Gaucher, Fabry, and Pompe disease and its medical management to the study physician and other healthcare professionals.

Appointments

Clinic Phone Numbers

• For individuals 18 years and older, call UC Irvine Health specialty genetics at 714-456-7002, specialty genetics
• For individuals under 18 years of age, call CHOC Children's, 714-532-7982
• For individuals attending the Stramski Children's Development Center in Long Long, call 562-933-2000, or 562-424-4815