Scientists launch major study to unravel mysterious metabolism disorders

NCT ID NCT06092346

Recruiting now Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 25, 2026 · Last updated Jun 26, 2026 · Updated 1 time

Summary

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test results from affected individuals, their unaffected family members, and healthy volunteers to better understand what causes these conditions and how to treat them.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this study could reveal new causes and potential treatment targets for rare pyrimidine and purine metabolism disorders.

What could go wrong

This is an observational study, not a treatment trial. It will not directly test any therapy, and results may take years to translate into clinical care.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for METABOLIC DISEASE are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

ADA2 protein, human adenine phosphoribosyltransferase deficiency adenosine monophosphate deaminase deficiency adenylosuccinate lyase deficiency anemia Arts syndrome beta-ureidopropionase deficiency Charcot-Marie-Tooth disease developmental and epileptic encephalopathy, 35 Dihydropyrimidinase Deficiency dihydropyrimidine dehydrogenase deficiency dihydropyrimidinuria Hemolysis hemolytic anemia due to adenylate kinase deficiency hemolytic anemia due to pyrimidine 5' nucleotidase deficiency hereditary renal hypouricemia hereditary spastic paraplegia 63 hyper-IgM syndrome hyper-IgM syndrome type 2 hyper-IgM syndrome type 5 hypouricemia, renal 1 inborn disorder of purine or pyrimidine metabolism inosine triphosphatase deficiency Lesch-Nyhan syndrome metabolic disease myopathy due to myoadenylate deaminase deficiency orotic aciduria Oroticaciduria 1 phosphoribosylpyrophosphate synthetase superactivity pontocerebellar hypoplasia postaxial acrofacial dysostosis PRPS1 deficiency disorder purine nucleoside phosphorylase deficiency Sneddon syndrome thiopurine S-methyltransferase deficiency xanthinuria type I

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

ADA2, OMIM *607575,SNEDDON SYNDROME; VAIHS ADSL, OMIM *608222, ADENYLOSUCCINATE LYASE DEFICIENCY AICDA, OMIM *605257, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2; HIGM2 AK1, OMIM *103000, ADENYLATE KINASE DEFICIENCY AMPD1, OMIM *102770, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY AMPD2, OMIM *102771, SPASTIC PARAPLEGIA 63; PONTOCEREBELLAR HYPOPLASIA AMPD3, OMIM*102772, AMP DEAMINASE DEFICIENCY APRT, OMIM *102600, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY CAD, *1140120, DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY DHODH, OMIM *126064, MILLER SYNDROME (POSTAXIAL ACROFACIAL DYSOSTOSIS) DPYD, OMIM *274270, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY DPYS, OMIM *613326, DIHYDROPYRIMIDINASE DEFICIENCY HPRT1, OMIM *308000 LESCH-NYHAN DISEASE IMPDH1, OMIM *146690, RETINITIS PIGMENTOSA TYPE 10, LEBER CONGENITAL AMAURIOSIS TYPE 11 ITPA, OMIM *147520, INOSINE TRIPHOSPHATASE DEFICIENCY; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 METABOLIC DISEASE NT5C3A<TAB>, OMIM *606224, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY PNP, OMIM *164050, NUCLEOSIDE PHOSPHORYLASE DEFICIENCY PRPS1 DEF, OMIM *311850, ARTS SYNDROME; CHARCOT-MARIE-TOOTH DISEASE PRPS1 SA, OMIM *311850 GOUT, PRPS-RELATED PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY PURINE-PYRIMIDINE METABOLISM SLC22A12, OMIM *607096 HYPOURICEMIA SLC2A9, OMIM *606142 HYPOURICEMIA TPMT, OMIM *187680, THOIPURINES, POOR METABOLISM OF UMPS, OMIM *613891, OROTIC ACIDURIA UNG, OMIM *191525, HYPER-IGM SYNDROME 5 UPB1, OMIM *606673, BETA-UREIDOPROPIONASE DEFICIENCY XDH, OMIM *607633, XANTHINURIA TYPE 1

Contacts and locations

Show contact details

Study contacts

Contact

Phone: •••-•••-•••• Email: •••••@•••••

Locations

National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States

Contact Phone: •••-•••-•••• Email: •••••@•••••

Contact Phone: •••-•••-•••• Email: •••••@•••••