This Purine and Pyrimidine research aims to learn how Purine and Pyrimidine conditions change over time and to uncover the underlying biological mechanisms. Participation may include:

• Genetic testing (DNA collection and analysis)

• Blood, body fluid, and tissue samples

• Enzyme and biochemical testing

• Microbiome (gut health) analysis

• Optional skin biopsy for some participants

• Medical evaluations, lab work, and imaging at NIH

All collected data helps researchers:

• Better understand disease progression

• Identify potential biomarkers

• Develop models that could guide future treatments

Link to study

Participation begins with convenient telehealth appointments, followed by the option of one in-person visit per year at the NIH Clinical Research Center in Bethesda, Maryland. The NIH team can also help answer questions about travel, lodging, and logistics. Contact Shannon

• Individuals diagnosed with Lesch-Nyhan

• Carriers of Lesch-Nyhan

Every participant plays a critical role in moving research forward.

• Those who participate will be contributing to the Lesch-Nyhan Natural History Study that will be there to help contribute to researchers worldwide.

Currently this study is open to US and Canadian families.

The National Institutes of Health (NIH) is currently enrolling individuals across the full spectrum of Lesch-Nyhan—including both classic and variant forms. Including the entire range of presentations is important because it helps researchers better understand how the condition can differ from person to person, identify patterns, and uncover insights that might be missed when looking at only one form. This broader picture ultimately strengthens the research and supports the development of more informed care and future treatment approaches.

If you’re interested or just want to explore whether this is a good fit for your family, we encourage you to reach out:

📧 Shannon Haines, CGC
shannon.haines@nih.gov

You’ll be able to ask questions, learn more about the process, and decide what feels right for you

Love Never Sinks Blog

Slide Deck with Pictures of the accommodations, copy of a sample schedule, Dr. Olegs team and some pictures of the mentioned studies.

Yes—air travel is covered. The NIH will arrange and pay for your flights and accommodations during your visit. They also provide a stipend to help cover meals for family members participating in the study.

If you have any questions or want to talk through the details, feel free to reach out to Shannon.

Contact information for Shannon

Study Start (Actual)

2023-12-19

Primary Completion (Estimated)

2099-01-01

Study Completion (Estimated)

2099-01-01

Enrollment (Estimated)

999

Study Type

Observational

AMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase DeficiencyTPMT, OMIM *187680, Thoipurines, Poor Metabolism ofIMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11APRT, OMIM *102600, Adenine Phosphoribosyltransferase DeficiencyHPRT1, OMIM *308000 Lesch-Nyhan DiseaseXDH, OMIM *607633, Xanthinuria Type 1SLC2A9, OMIM *606142 HypouricemiaSLC22A12, OMIM *607096 HypouricemiaPRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth DiseasePRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase SuperactivityAMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar HypoplasiaITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35ADSL, OMIM *608222, Adenylosuccinate Lyase DeficiencyPNP, OMIM *164050, Nucleoside Phosphorylase DeficiencyADA2, OMIM *607575,Sneddon Syndrome; VAIHSCAD, *1140120, Developmental and Epileptic EncephalopathyUPB1, OMIM *606673, Beta-ureidopropionase DeficiencyDPYS, OMIM *613326, Dihydropyrimidinase DeficiencyDPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase DeficiencyDHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis)UMPS, OMIM *613891, Orotic AciduriaNT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 DeficiencyUNG, OMIM *191525, Hyper-IgM Syndrome 5AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2Purine-Pyrimidine MetabolismMetabolic Disease

Other Study ID Numbers 

• 10001625

• 001625-HG

Study Start (Actual) 

2023-12-19

Primary Completion (Estimated) 

2099-01-01

Study Completion (Estimated) 

2099-01-01

Enrollment (Estimated) 

999

Study Type 

Observational

Resource links provided by the National Library of Medicine 

MedlinePlus Genetics related topics:  Adenylosuccinate lyase deficiency  Miller syndrome  Dihydropyrimidine dehydrogenase deficiency  Gout  Lesch-Nyhan syndrome  Dihydropyrimidinase deficiency  Phosphoribosylpyrophosphate synthetase superactivity  Adenosine monophosphate deaminase deficiency  Hereditary neuropathy with liability to pressure palsies  Arts syndrome  Hereditary xanthinuria  Pontocerebellar hypoplasia  Charcot-Marie-Tooth disease  Beckwith-Wiedemann syndrome  Beta-ureidopropionase deficiency  X-linked hyper IgM syndrome  Retinitis pigmentosa  Adenine phosphoribosyltransferase deficiency  Purine nucleoside phosphorylase deficiency 

MedlinePlus related topics:  Anemia  Charcot-Marie-Tooth Disease  Metabolic Disorders 

Genetic and Rare Diseases Information Center resources:  Adenosine monophosphate deaminase deficiency  Adenine phosphoribosyltransferase deficiency  Hereditary xanthinuria type 1  Arts syndrome  Charcot-Marie-Tooth disease  Hereditary spastic paraplegia 63  Pontoneocerebellar hypoplasia  Adenylosuccinate lyase deficiency  Purine-nucleoside phosphorylase deficiency  Sneddon syndrome  Cold agglutinin disease  Deficiency of beta-ureidopropionase  Dihydropyrimidinase deficiency  Dihydropyrimidine dehydrogenase deficiency  Miller syndrome  Hereditary orotic aciduria  Hyper-IgM syndrome type 5  Hyper-IgM syndrome type 2 

Once enrolled you will be followed for life (or as long as the study continues 1-2099).

You can withdraw at any time.

This Study does include carriers.

The NIH is interested in working with family members that are affected and those who are carriers.

Lesch-Nyhan Research Participation & Clinical Studies — Love Never Sinks