OTHER CLINICAL TRIALS FOR UCD

WHAT IS A CLINICAL TRIAL?

 

Hope for the Future -  Training New Clinicians and Advancing Research through the NUCDF Fellowship


The purpose of the NUCDF's Fellowship Grant is to improve the quality of care for urea cycle disorder-affected individuals by attracting promising new clinicians and researchers with interest in biochemical genetics to the field of urea cycle disorders. The Fellowship helps support postdoctoral fellows to specialize and focus on research, clinical treatment and coordination of multidisciplinary care of UCDs, while advancing the understanding and treatment of our disorders.

The impact of the NUCDF Fellowship Awardees cannot be overstated. The work of three of our awardees, Oleg Shchelochkov, Ayelet Arez, and Sandesh Nagamani was recognized as pioneering, resulting in a major discovery in ASA deficiency that transforms human science. The research has been published in Nature Medicine, a preeminent scientific journal, and challenges long-held theories about the role of nitric oxide in the human body as a regulator of cardiovascular health. The discovery is the result of research spanning several years conducted by our NUCDF Fellows and led by Dr. Brendan Lee.  Another pioneering researcher, Dr. Stephen Cederbaum, says of Dr. Lee's work, "He has transformed treatment of this rare condition and illustrates what one creative mind in the hands of an excellent and persistent scientist can do." NUCDF and our families are delighted beyond words that our investment in these three promising young scientists and Dr. Lee's work has resulted in this life-changing discovery. Clinical trials for this new therapy for ASA will start in the Fall of 2014.

Lindsay Burrage, MD, PhD
Recipient of the 2014 NUCDF Fellowship Award

Dr. Burrage is a biochemical genetics Fellow in the Department of Molecular and Human Genetics at Baylor College in Houston, TX, where she received the Best Medical Genetics Resident Award in 2012. Dr. Burrage received her MD and PhD in genetics at Case Western Reserve in Cleveland, OH, and garnered numerous awards recognizing the high quality of her work. Upon completion of her PhD in genetics, she received the Henry F. Saunders Award for Pediatrics and entered the pediatric residency program at Rainbow Babies and Children's in Cleveland to continue to explore her interest in rare metabolic diseases.  Dr. Lee comments, "Lindsay is an excellent clinician and a gifted researcher.  I am sure she will become a leader in the field with NUCDF's continued support..."

Dr. Burrage says, "I have had a long-standing interest in metabolic disorders. During my genetics residency and biochemical genetics fellowship, I have participated in various ongoing clinical research studies including several studies involving urea cycle disorders under the mentorship of Dr. Brendan Lee. I initiated studies of human recombinant arginase therapy for lowering plasma arginine in a neonatal mouse model for arginase deficiency. The NUCDF Fellowship Award will support the extension of my studies of arginase enzyme therapy in an adult mouse model.  As a biochemical geneticist, I am very motivated to participate in translational research that has relevance to the care of my patients. The proposed training project will help me to transition into a career as an independent physician-scientist focusing on urea cycle disorders."

Sandesh Sreenath Nagamani, MBBS, MD
Recipient of 2011 NUCDF Fellowship Award

Dr. Nagamani is Assistant Professor, Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, TX. He is board-certified in internal medicine and medical and clinical genetics. Dr. Nagamani received his M.D. from the University of Mysore in Karnataka, India, and completed internships and residencies at Gandhi Medical College in India, the Cleveland Clinic in OH, and at Baylor.   Dr. Nagamani is a favorite of UCD families being followed in the Baylor Genetics Clinic and enrolled in the HPN-100 trial at the Baylor site. Dr. Nagamani will be continuing research on nitric oxide (NO) in ASA deficiency funded by NUCDF via our 2008 and 2009 NUCDF Fellowship Award recipients, Ayelet Arez, M.D., Ph.D., and Oleg Shchelochkov, M.D.

Dr. Nagamani says, “I have always been fascinated by the myriad pathways involved in disease pathogenesis and the modulation of one or more key pathways by therapeutic agents. The desire to be involved in understanding the mechanisms of disease and developing therapeutic interventions drove me towards a career in translational research. After graduating from Medical School and residency in Internal Medicine in India, I moved to the US to realize my ambition of becoming a physician scientist. After two years of clinical medicine residency, I enrolled in the research pathway track for a combined internal medicine and genetics fellowship at Baylor College of Medicine.”

“During my training in genetics at one of the largest metabolic centers in the US, I had the opportunity to evaluate and treat many patients with urea cycle disorders (UCDs). With appropriate treatment, there has been a significant impact on survival and this has have led to uncovering of the long-term complications such as liver dysfunction and hypertension in some UCDs like Argininosuccinic Aciduria (ASA). The mechanisms responsible for chronic consequences are not yet well characterized, precluding the development of therapeutic agents to prevent or treat these complications.”

“During my training in genetics, I was indeed fortunate to work in the clinic and the laboratory under the mentorship of Dr. Brendan Lee. Under his guidance, I have been involved in many clinical trials as well as understanding the link between urea cycle and nitric oxide production and its possible role in causation of long-term complications. I believe that the clinical and research experience gained from my training have equipped me with the aptitude to evaluate the role of nitric oxide in causation of hypertension in patients with ASA.”

“My long term goal is to continue integrating metabolic genetic and mouse genetics research to understand the contribution of NO dysregulation to human disease with a focus on UCDs. The ultimate goal would be to translate the findings back to patient care. The research support provided by NUCDF will be leveraged into obtaining a National Institutes of Health K-award that would allow my transition into an independent researcher.”

SUPPORT THE IMPACT OF THE NUCDF FELLOWSHIP AWARD

The NUCDF Fellowship Award is one way we pursue our mission to stimulate and support research, while at the same time training new clinicians to care for the growing population of those affected by urea cycle disorders. The research supported by the Fellowship has transformed the understanding of urea cycle disorders in just a few short years.  NUCDF Fellows have begun clinical practice in underserved regions of the US and are caring for a new generation of children diagnosed with UCD, who would not otherwise have been diagnosed or had access to a UCD specialist.

The generosity of our donors supports this program.  Your donation can help expand the program so that NUCDF can offer more than one fellowship each year, and multiply the impact.  Thank you for your support and making an impact on the lives of those affected by urea cycle disorders.

DONATE TO SUPPORT THE FIGHT TO CONQUER UCDs

 

 


Research Studies

Validation of Newborn Screen to identify OTC/CPS1/NAGS deficiencies at birth: Requires parental consent to release stored NBS screen of children diagnosed with these disorders. Contact NUCDF at OTC/CPS/NAGS NBS Study

UCD Consortium Research Studies

Longitudinal Study for UCDs with list of all UCD Consortium Research Centers

Investigation of Brain Nitrogen Metabolism in Partial Ornithine Transcarbamylase Deficiency (OTCD) using 1H Magnetic Resonance Spectroscopy, Diffusion Tensor Imaging, and functional MRI.

The Effect of Sodium Phenylbutyrate (Buphenyl) and Low-Dose Arginine Compared to High-Dose Arginine Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients with Argininosuccinic Aciduria (ASA).

N-carbamylglutamate (NCLG) treatment in N-acetylglutamate synthetase deficiency (NAGS), partial carbamyl phosphate synthetase deficiency (CPS1) or partial ornithine transcarbamylase deficiency (OTC)

 

Industry-Sponsored      Clinical Trials

Investigational Drug HPN-100

(Sponsor: Hyperion Therapeutics)

Safety and Effectivness of Hepatocyte Transfer

(Sponsor: Cytonet)


“I have been a participant or observer in many efforts to bring together families and researchers in regard to a specific disorder or group of disorders, and I have never seen one in which there was such a superb collaboration and focus on the common goal.” 

Hugo Moser, M.D., Adrenoleukodystrophy Researcher (“Lorenzo’s Oil”), Kennedy-Krieger Institute, NIH Monitor to UCDC