Clinical Trials in Our Division

The Division of Medical Genetics conducts several research studies on different rare diseases. To learn more about any of the research studies listed below, please contact the study coordinator, Vanessa Guzman, at 323-361-4910 or at

PKUDOS-PKU Demographics, Outcomes and Safety Registry

PKUDOS is an observational study designed to learn more about treating phenylketonuria (PKU) with Kuvan. Participants will come in to their clinic visits as part of their regular PKU care and information from clinic visits will be collected for the registry, including information such as: medical history, physical exam, behavioral information, blood phenylalanine (Phe) levels and history, dietary Phe intake, and Kuvan dosage.

PKUDOS is enrolling patients diagnosed with phenylketonuria (PKU) that either:

  • Are currently taking Kuvan, or
  • Have taken Kuvan in the past, or
  • Will begin taking Kuvan soon

MPS VI Clinical Surveillance Program (CSP)

The purpose of this registry is to collect medical information from patients with Mucopolysaccharidosis (MPS) VI to better understand what happens to them over time and to help their physicians take better care of them. This registry is observational and participation will include the collection of medical information such as medical tests, lab results and physician’s notes about the participant’s health. To enroll in this registry, patients must have a diagnosis of MPS VI.

Phase 2 Glut1 DS Clinical Trial

Currently, we are enrolling subjects with Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) in an Ultragenyx Pharmaceutical company-sponsored trial. The purpose of this study is to compare the effects, good and/or bad, of experimental drug UX007 (also known as triheptanoin), with a placebo (an inactive drug) in patients with Glut1 DS that are either not on, or unable to comply with or tolerate, the ketogenic diet. For more information on Glut1 DS and Ultragenyx Glut1 DS clinical trials, please visit:

HATT Project-Screening Study for MPS I, II and VI

This study is designed to evaluate the positive screening rate of some rare diseases called Mucopolysaccharidosis (MPS) I, II and VI in high-risk patients. These MPS diseases are extremely rare in the general population and are usually diagnosed only after symptoms of the disease have shown.

To pre-qualify for this study, you must:

  • Be a male younger than seven years old
  • Have had or be scheduled for ENT surgery of any of the following, alone or in combination: ear, nose and/or throat surgery
  • Have a record of previous surgical repair or presence of hernia

Individual patient participation in the study will take 1 day (screening visit) and will include the collection of a blood sample for diagnosis using dried blood spot (DBS) analysis.

Neurocutaneous Disorders Database

The objective of this study is to create a computer database containing clinical information from patients followed at CHLA with neurocutaneous diseases (diseases that affect the skin and nervous system). This database may help us understand these diseases better and may be used for future studies about neurocutaneous diseases. Patients with Neurofibromatosis 1 (NF1), Neurofibromatosis 2 (NF2), Tuberous Sclerosis or another neurocutaneous disease may enroll in this study. We are working with the Division of Neurology on this study.