A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Human Genome Research Institute (NHGRI)
Study ID
NCT06092346
Status
Recruiting
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Conditions

  • 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

Eligibility Criteria

Sex
ALL
Age
1 Month - 100 Years
Healthy Volunteers
Not accepted

Study Details

Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them. Objective: To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people. Eligibility: Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers. Design: Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as: Swabs of their skin and inside the mouth. Tests of their heart, kidney, brain, and nerve function. Questionnaires about what they eat. Dental exams, and exams of their hearing and vision. Tests of their learning ability. Monitoring of their physical activity. Imaging scans. Photographs of their face and body. These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to. Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.

Key Dates

Start date
Dec 19, 2023
Status verified
Aug 2025
Primary completion
Jan 1, 2099
Completion
Jan 1, 2099

Study Design

Enrollment
999 participants (estimated)

Arms

  • Arm: Family Member of a subject with known or suspected DPPM
    1\. At least one month of age;2. Relationship either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected DPPM;3. Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative s possiblecondition; and4. Ability of the subject, parent/s (in the case of children), or an LAR to understand and the willingness to sign a written informed consent document.5. If during the consenting/assenting procedure, clinical suspicion arises that a family member has symptoms of the diagnosed DPPMs, additional review and/or studies may be requested to clarify the clinical status before enrolling a family member as an unaffected participant.
  • Arm: Healthy Volunteers
    1\. No personal or family history of DPPMs;2. At least one month old;3. No symptoms of DPPMs;4. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of the DPPM under study; 5. And ability of the subject, parent/s (in the case of children), or an LAR to understand and the willingness to sign a written informed consent document.
  • Arm: Subjects with known or suspected or uncharacterized DPPMs
    1\. Regardless of gender, at least one month of age;2. A medical history that, in the expert opinion of the study team, is consistent with the DPPM; 3. Have a primary metabolic or genetic physician, or primary care provider; and 4. Ability of the subject, parent/s (in the case of children), or a Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.

Primary Outcome Measure

TP describe features of poorly characterized and novel DPPMs. [ Time Frame: indefinite ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
Shannon Haines
[email protected]
240-987-8298
NIH Clinical Center Office of Patient Recruitment (OPR)
[email protected]
(800) 411-1222

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