Our History

1988

Hope has a name. NUCDF founded as a volunteer patient advocacy organization.

1989

May 21 Washington DC. First formal meeting of NUCDF Board, led by Saul Brusilow, MD.

1990 - 91

First invitation to join NUCDF is sent to known UCD families.

1992

Saul Brusilow, MD, Johns-Hopkins University, develops sodium phenylacetate (Ucephan), the first ammonia scavenger for UCD.

1994

NUCDF Board envisions grant research award of $1,000 to $5,000 per year to encourage UCD research.

Sodium phenylbutyrate enters clinical trials; trials risk closure due to lack of funding for drug supply.

NUCDF sponsors meeting with 50 UCD parents, FDA, National Institutes of Health and Senator Bill Bradley (NJ) to advocate for continued drug supply for phenylbutyrate clinical trial.

1995

First NUCDF Annual Family Conference held in Philadelphia, PA (35 attendees)

$100,000 Grant to Brusilow to secure supply of sodium phenylbutyrate to continue clinical trial.

1996 - 97

Sodium phenylbutyrate receives Orphan Drug FDA approval (tradename Buphenyl) manufactured by Dr. Brusilow’s drug company Ucyclyd Pharma.

1999

NUCDF website is launched at www.nucdf.org

NUCDF elected to membership of National Organization for Rare Disorders (NORD)

NUCDF and Saving Babies organize grassroots movement for mandated state newborn screening for inborn errors of metabolism.

Clinical trial for Gene Therapy for OTC begins. Ends in tragic death of Jesse Gelsinger.

2000

NUCDF co-founds Coalition for PKU & Allied Disorders, uniting inborn error of metabolism community to advocate for mandated state newborn screening.

1st UCD Consensus Guidelines Meeting held in Washington, DC. Proceedings published in Journal of Pediatrics.

NUCDF becomes organizational member of Genetic Alliance to advocate for rights of individuals with genetic disorders.

2001

NUCDF serves on state newborn screening advisory boards and pilot screening projects, joins with March of Dimes to advocate for federal universal screening mandate.

NUCDF appoints first Executive Director.

2002

NUCDF raises awareness to advocate for the passage of the Rare Diseases Act of 2002.

California, Wisconsin, Pennsylvania, Massachusetts become first states to pass legislation to screen newborns for ASL, Citrullinemia and Arginase Deficiency.

2003

NUCDF hosts first joint Family Conference and UCD Consortium Scientific Meeting.

NUCDF sponsors series of ongoing continuing medical education symposiums on Recognition and Treatment of UCDs in Pediatric Practice.

Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) submits Recommended Universal Screening Panel to Secretary of Health and Human Services, including ASL, Citrullinemia, Arginase Deficiency.

2004 - 05

NUCDF partners with UCD clinical researchers to found the Urea Cycle Disorders Consortium (UCDC) to establish “centers of excellence” for the conduct of collaborative clinical research and training of next generation of UCD researchers. Principal Investigator, Mark Batshaw, MD, leads Consortium.

UCD Consortium (5 centers + NUCDF) awarded $6 Million Grant by NIH Office of Rare Diseases and National Institute of Child and Human Development as part of NIH Rare Diseases Clinical Research Network established by the Rare Diseases Act of 2002.

2006 - 07

UCD Consortium launches first Longitudinal Study of Urea Cycle Disorders at 6 “centers of excellence” clinical research sites. More than 250 NUCDF families answer the call to participate in the first few months.

2007 Newborn Screening Saves Lives Act of 2007 passes Congress, becomes law 2008.

Ammonul IV “rescue medication” for hypermmonemia receives FDA Orphan Drug approval.

2008

Urea Cycle Disorders Consortium (now grown to 12 centers + NUCDF) receives renewal of NIH funding for another 5 years, led by Principal Investigator Mark Batshaw, MD.

NUCDF Executive Director named as Co-Principal Investigator of NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium.

NUCDF sponsors educational symposium, “A Practical Approach for Identifying and Treating UDC,” American Academy of Pediatrics Annual Conference.

NUCDF receives $1 Million capacity building grant from Thomas and Mary Alice O’Malley Foundation.

NUCDF hosts 1st Regional Educational Seminar on UCD in Chicago.

NUCDF opens new office in Pasadena, CA

2008

NUCDF establishes NUCDF Fellowship Award to support new research trainees and research projects.

First NUCDF Fellowship awarded to Ayelet Arez, MD, PhD, Baylor College of Medicine to study ASL.

NUCDF organizes International Scientific Symposium to be held August 2009, La Jolla, CA

Clinical trials open for two new investigational drugs for UCD (Carbaglu for NAGS and hepatocyte transfer for OTC, ASL, Citrullinemia, CPS1)

NUCDF partners with Hyperion Therapeutics on development of investigational new drug, HPN-100, for treatment of UCDs.

NUCDF develops Patient/Caregiver and Physician Surveys on Buphenyl administration issues to educate FDA on need for improved drug.

2009

2nd NUCDF Research Fellowship awarded to Oleg Shchelochkov, MD, Baylor to continue ASL studies.

NUCDF receives NIH Scientific Conference Grant for UCD International Scientific Symposium.

NUCDF collaborates with Dr. Andrea Gropman on development of imaging studies on the effects of UCD on brain function.

NUCDF forms Council to develop strategic partnerships for new drug and treatment development.

NUCDF hosts International Scientific Symposium “Overcoming Barriers – New Developments and Future Directions for UCD.” Over 240 international clinicians and researchers attend.

NUCDF hosts 1st Scientific Meeting on Neuroprotection for UCD.

NUCDF partners with University of Wisconsin Newborn Screening Lab to develop 2nd-tier validation screen for OTC deficiency. OTC families participate by consenting to release their children’s state newborn screening cards to study.

2010

NUCDF establishes collaborations with companies on development of home ammonia testing device.

Clinical trials begin for investigational new drug HPN-100 (Ravicti), Hyperion Therapeutics.

Carbaglu receives FDA Orphan Drug approval for use in NAGS deficiency.

Proceedings of NUCDF’s International Scientific Symposium, “Overcoming Barriers – New Developments and Future Directions for UCD” published as supplement to Molecular Genetics and Metabolism journal. NUCDF Executive Director serves as co-editor with Dr. Stephen Cederbaum.

NUCDF launches “Brain Project” to support research into the effects of UCD on brain function and interventions to prevent neurological damage.

Annual Cure the Cycle Challenge established to raise UCD awareness and funds to support neurologic research.

2011

3rd NUCDF Research Fellowship awarded to Sandesh Nagamani, MD, Baylor College of Medicine to continue research into the role of nitric oxide in ASL.

NUCDF hosts nutrition research meeting for UCD dietitians.

NUCDF collaborates with Vitaflo on development of improved amino acid formula, hosts focus group at NUCDF Family Conference in Denver.

NUCDF launches interactive online support community and educational portal – ReachUCD.

NUCDF receives prestigious Child Neurology Foundation Advocacy Award for outstanding achievements on behalf of patients and families with neurologic and developmental disorders.

NUCDF Executive Director selected as co-chair of Coalition of Patient Advocacy Groups for the NIH Rare Diseases Clinical Research Network

NUCDF launches organization Facebook page to raise awareness of UCDs.

2012

NUCDF begins strategic development of innovative web-based personalized nutrition tool.

NUCDF Brain Project awards research grant to Andrea Gropman, MD for pioneering neuroimaging research.

NUCDF launches first IRB-approved patient-reported outcomes research database – the UCD International Patient Registry to improve the understanding of UCD and identify areas for focused research.

NUCDF Executive Director, invited as a working group member of “Charting a Course for Intellectual Disability Research for the Next 10 Years,” by National Institutes of Child and Human Development.

2013

NUCDF funds two new clinical research sites, Stanford and University of California San Francisco, as part of the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium.

NUCDF opens pioneering Next Generation DNA Sequencing Study at Baylor College of Medicine.

Pheburane (taste-masked sodium phenylbutyate granules) approved in Canada.

2014 - 15

6th NUCDF Research Fellowship awarded to Debra Hook, RD, MPh, for UCD diet research project.

NUCDF partners in establishment of coalition organization to advocate for federal Medical Foods Equity Act (MNEA).

NUCDF partners with Recordati Rare Diseases on launch of updated CheckAmmonia website and resources to raise awareness and improve identification of hyperammonemia.

NUCDF Executive Director invited panelist at annual Evening with Genetics, Baylor College of Medicine, introducing medical students to genetics clinical research.

NUCDF Executive Director and Zalusky Family raise awareness of UCDs as invited lecturers, annual Compassion and the Art of Medicine lecture, Baylor College of Medicine, attended by medical students and faculty.

NUCDF sponsors development of new mobile application and tool for dietary management and research studies, MyUCD Diet.

NUCDF establishes Consensus Guidelines Working Group to develop new treatment guideline resources for medical professionals.

2016

5-year NUCDF collaboration with Hyperion Therapeutic results in FDA Orphan Drug approval of HPN-100 (Ravicti).

NUCDF Task Force established to pursue addition of OTC to Health and Human Services Secretary’s Advisory Committee on Newborn Screening mandated screening panel.

NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium grows to 17 US and international sites, receives 3rd round of 5-year funding.

NUCDF co-hosts 4th International Scientific Symposium on UCD, “Catalyzing New Therapeutic Approaches,” Barcelona, Spain.

NUCDF collaborates with Lucane Pharma on development of taste-masked sodium phenylbutyrate granules (Pheburane).

NUCDF partners with Recordati Rare Diseases to launch CheckAmmonia.com initiative and website to raise awareness and improve identification of hyperammonemia.

NUCDF partners with American College of Emergency Physicians and American Academy of Pediatrics to launch online survey and information on current practice standards for identification of hyperammonia.

First Virtual NUCDF Annual Family Conference held online with over 250 families around the world.

2017

NUCDF Executive Director invited to speak at FDA “Complex Issues in Rare Disease Drug Development” meeting.

4th NUCDF Research Fellowship awarded to Lindsay Burrage, MD, Baylor College of Medicine to research “Enzyme replacement therapy for Arginase deficiency.”

NUCDF establishes Patient-Powered Research Team to participate in development of research studies.

NUCDF partners with researchers on study “Comparing Outcomes: Liver Transplant vs. Conventional Treatment in UCD,” receives 3-year funding from Patient-Centered Outcome Research Institute (PCORI).

2015 NUCDF establishes CureUCD Center for Preclinical Therapeutic Discovery at Baylor College of Medicine to catalyze development of new generation of treatments that hold promise of a cure.

2019

NUCDF three part video series on COVID-19

2020

NUCDF Develops three part video series on COVID-19 and Vaccines in partnership with UCDC and RDCRN

2021

NUCDF and Urea Cycle Disorders Consortium host International Scientific Symposium on UCD for clinicians and researchers

2022

NUCDF launches new app to inform the UCD community, families and providers about the results of the Liver Transplant vs. Medical Management for Urea Cycle Disorders study.

2023

NUCDF launches new website and newsletter. Approval of My Rare Diet App Phase 2 development.