Research Opportunity Announcements

Posted August 2018:

Phase 2 study of glycomacropeptide (GMP) vs. amino acid (AA) diet for management of PKU.

This randomized, cross-over study compares a subject’s usual low-phe diet including his/her usual AA PKU formula to the low-phe diet including foods and drinks made from GMP, which will replace the subject’s usual formula. Subjects will be on both diets and each diet period lasts 3 weeks. Subjects will come to Madison for an outpatient visit at the beginning and end of each diet period. At each visit, blood will be drawn to evaluate amino acids, nutrition status and bone labs. During each 3 week period, subjects will collect 11 blood spots, fill out daily protein logs and complete two 3 day diet records. Subjects will also complete psychological tests that will measure how both diets affect executive function such as memory, ability to plan ahead and decision-making skills. A DEXA scan will be completed during the trial to evaluate bone density. The change in plasma phe levels on each diet will be compared as well as other labs looking at general nutrition status and bone metabolism on each diet. Eligible subjects are 12 to 45 years of age. Those on Kuvan® are eligible to participate. All travel costs for the 4 visits will be covered. The study is funded by the FDA Office of Orphan Products Development, R01 FD003711. For further information, contact Denise Ney at or Sandy van Calcar at . '; document.write( '' ); document.write( addy_text83072 ); document.write( '<\/a>' ); //-->

N-Carbamylglutamate (Carbaglu) In the Treatment of Hyperammonemia ( identifier: NCT00843921)

Children's Research Institute, Children's National Medical Center (Principal Investigator: Mendel Tuchman, MD) is conducting a study to investigate the short-term efficacy and safety of the orphan drug, N-Carbamyl-L-glutamate (Carbaglu®, abbreviated as NCG), for the treatment of hyperammonemia in rare inherited disorders: carbamyl phosphate synthetase I (CPSI) deficiency, NAGS deficiency, ornithine transcarbamylase (OTC) deficiency, propionic acidemia (PA) and methylmalonic acidemia (MMA). Subjects between 1 day-70 yrs are presently being recruited. For more information visit:

The United Mitochondrial Disease Foundation keeps an active list of clinical trials seeking patients. Currently, The University of Florida is continues to recruit patients for a clinical trial to investigate the safety and effectiveness of a Phase 3 Coenzyme Q10 (CoQ10) as a treatment for children with specific mitochondrial diseases. CoQ10 is a mitochondrial cofactor and antioxidant in the process that cells use to convert food and oxygen into energy. To be considered for the trial, patients must be 12 months to 17 years of age and have a biochemical or molecular diagnosis of a deficiency of complex I, III or IV of the respiratory chain.
For additional information contact Courtney Yates, RN, at or at 352-273-9016.

To see the complete list, visit the UMDF's clinical trials page

Phase 2 Study of Triheptanoin of Long-Chain Fatty Acid Oxidation Disorders

Clinical Trials identifier: NCT01379625

A new study looking at the effects of 4 months of an odd-chain fatty acid supplement, Triheptanoin, to treat muscle pain and weakness, heart function, and energy problems of fatty acid oxidation disorders is being conducted at OHSU and the University of Pittsburgh. If you have CPT2, VLCAD or LCHAD or TFP deficiency and are 7 to 45 years old, you may be eligible to participate. Participants must come to OHSU or University of Pittsburgh and stay at the Clinical Research Center for 4 days on two different occasions. The study covers travel expenses. Participants may be asked to take medium-chain triglyceride (MCT) or triheptanoin (the study supplement). The chance of being asked to take the study supplement is 50%.

For more information, please contact Melanie Gillingham, PhD at (503) 494-1682 or email

A survey of individuals with deficiencies in mitochondrial trifunctional protein
The purpose of this study is to learn more about the cause of vision loss in individuals with Long-chain 3-hydroxyacylCoA Dehydrogenase Deficiency (LCHADD) or Trifunctional Protein Deficiency (TFPD). These deficiencies are rare conditions that keep the body from using certain types of fat for energy. LCHADD and TFPD most often present in infancy with lack of energy, dangerously low blood sugar episodes during fasting or illness, weak muscles and possibly heart and liver complications. This study aims to determine which features of these deficiencies may be related to vision loss. We also hope to determine the frequency of certain changes in the DNA in genes that code for trifunctional protein (TFP) in the United States. Individuals with LCHADD or TFPD or their family members will complete the survey anonymously through a web-based portal two times, once at recruitment and once about one year later. The survey will collect parent or subject reports of medical history, diagnosis, metabolic complications, and genotyping information if it is known. This portion of the survey consists of about 45-53 questions. Depending on participant answers, 30-35 questions from the National Eye Institute Visual Function Questionnaire version 2000 are included. There are a maximum of 88 questions in the survey, if all follow-up questions are included. At the end of the first survey, we will ask permission to collect medical record information and correlate medical records to their survey responses. Participation in this study may help us to understand and potentially find ways to prevent vision loss in the LCHADD or TFPD setting. Click here to read more about this survey.
For more information, please contact Autumn Fletcher, study coordinator, at (503) 418-0109 or

The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity.

Clinical Trials Identifier: NCT01421888

Childhood immunization programs have had a significant impact on preventing morbidity and mortality due to infectious diseases. Individuals with Urea Cycle Disorders are a potential high-risk group for vaccine preventable diseases. However, biochemical changes, dietary deficiencies and ammonia intoxication may affect the immune response and not only increase risk of infection, but also diminish the ability to respond to vaccines. Although the risk/benefit ratio is easily in favor of immunizing UCD patients, the ability of vaccines to provide protective immunity is an understudied area. Our clinical study at the NIH Clinical Center is attempting to answer some of these questions. Below please find a link to the study website which has a brief study description, inclusion criteria and contact information. We will provide transportation, lodging and meal reimbursement to study participants and their families.

For more information:

Study PI: Peter McGuire MS, MBBCH
Study Coordinator: Janet Shiffer, NP

Phone: 301-451-9145

Clinical Study: Open-Label Phase 2 Study of Triheptanoin (UX007) in Patients with Long-Chain Fatty Acid Oxidation Disorders

Ultragenyx is recruiting a phase 2 study in patients 6-25 years old with CPT II, LCHAD or VLCAD, who continue to have significant symptoms of rhabdomyolysis or chronic elevation of CPK, despite current treatment.

UX007 (otherwise known as triheptanoin, or C7 oil) is an investigational anaplerotic medium odd-chain triglyceride which will be added to patients diet or exchanged for MCT. The purpose of the study will be to determine the effect of UXOO7 on energy expenditure (cycle ergometry), rhabdomyolysis events, muscle weakness and fatigue (12MWT), as well as changes in blood and urine LC-FAOD disease parameters and biomarkers.

Following completion of an initial 4 week run-in period, during which time patients will maintain their current therapy (including diet), patients will then discontinue any MCT use and begin oral dosing of UX007 at approximately 25-35% of total caloric intake. This will be a 6 month open-label study with a 12 month extension study. Subjects will be assessed at regional sites; travel, lodging and meal reimbursement will be provided.

For further information, please visit
or contact Deborah Marsden, MD (

Clinical Study: Prism 301: A Clinical Research Study for Adults with Phenylketonuria (PKU)

BioMarin is recruiting a phase 3 study in patients 18 years old and older with PKU who are not well-managed with dietary restriction, with or without KUVAN®.

The Prism 301 study is assessing the safety and tolerability of BMRN 165 (also referred to as PEG PAL) at 20 mg/day and 40 mg/day in adults with PKU. A secondary objective is to evaluate blood Phe concentration during induction, titration, and maintenance dosing of BMN 165.

BMN 165 is an enzyme substitution therapy designed to reduce blood Phe concentrations in patients with PKU. Subjects self-administer the drug daily through a subcutaneous injection. The U.S. Food and Drug Administration (FDA) has assigned BMN165 the Orphan Drug designation.

This is an open-label, two-arm study. Subjects will be randomized 1:1 to either arm. Subjects in one arm will titrate to a dose of 20 mg BMN 165 per day, while subjects in the other arm will titrate to a dose of 40 mg BMN165 per day. Subjects will undergo monthly study visits.

Eligible subject must:

  • Be 18 to 70 years old
  • Have PKU with the following:
    - Blood Phe concentration at screening > 600 μmol/L
    - Average blood Phe concentration across the past 6 months > 600 μmol/L
  • Have no previous exposure to BMN 165
  • Have a treatment end date of at least 2 days before taking the first dose of BMN 165 if currently taking KUVAN® 
  • Have maintained a stable diet during the 4 weeks prior to enrollment and are willing to maintain a consistent diet throughout the study
Subjects who complete this study may be eligible to participate in protocol 165-302—a blinded, 8-week randomized, discontinuation phase followed by a long-term open-label extension.

To learn more about the study, please contact or refer your patients to

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