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NCT06092346 · ClinicalTrials.gov registry record
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
A clinical trial of AMPD3, OMIM*102772, AMP Deaminase Deficiency and AK1, OMIM *103000, Adenylate Kinase Deficiency, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 999
- Enrollment target
- 1
- Study location
NCT06092346: Recruiting study of AMPD3, OMIM*102772, AMP Deaminase Deficiency and AK1, OMIM *103000, Adenylate Kinase Deficiency, sponsored by National Human Genome Research Institute (NHGRI).
NCT06092346 is a study of AMPD3, OMIM*102772, AMP Deaminase Deficiency and AK1, OMIM *103000, Adenylate Kinase Deficiency that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 999 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT06092346, a study of AMPD3, OMIM*102772, AMP Deaminase Deficiency and AK1, OMIM *103000, Adenylate Kinase Deficiency, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 999 participants
- Enrollment target
- 1
- Study location
Study Summary
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.
Primary Outcome
DPPMs demonstrate significant inter- and intra-familial variability. We hypothesize that differences in clinical outcomes are the result of differences in the genomic, laboratory, and nutritional determinates. A proportion of subjects with biochemical evidence of DPPMs do not have molecular confirmation, suggesting locus heterogeneity and the opportunity to identify novel DPPMs.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 999 participants |
| Start Date | 2023-12-19 |
| Est. Completion | 2099-01-01 |
What NCT06092346 shows while recruiting
NCT06092346 is an observational study that tracks outcomes without assigning an intervention. The registered 999 participants enrollment target is mid-sized for trials with a published cap.
The record links to 10 conditions, with AMPD3, OMIM*102772, AMP Deaminase Deficiency appearing as the primary indexed condition, and to 0 interventions.
NCT06092346 reports a single indexed study location in Maryland.
Frequently Asked Questions
What is clinical trial NCT06092346 about?
NCT06092346 is a clinical study titled "A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders". 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 sympt...
What is the current status of trial NCT06092346?
This trial is currently recruiting. The enrollment target is 999 participants. The study started on 2023-12-19. Estimated completion is 2099-01-01.
What conditions does trial NCT06092346 study?
This clinical trial studies the following conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11.
Who is sponsoring clinical trial NCT06092346?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT06092346 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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