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NCT00078078 · ClinicalTrials.gov registry record
Clinical and Laboratory Study of Methylmalonic Acidemia
A clinical trial of Methylmalonic Acidemia and Inborn Errors of Metabolism, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 2,275
- Enrollment target
- 3
- Study locations
NCT00078078: Recruiting study of Methylmalonic Acidemia and Inborn Errors of Metabolism, sponsored by National Human Genome Research Institute (NHGRI).
NCT00078078 is a study of Methylmalonic Acidemia and Inborn Errors of Metabolism that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 2,275 participants, above the 48-participant average among 6 other Methylmalonic Acidemia trials with a reported enrollment target (4640% higher). The trial reports 3 study locations across 3 states. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00078078, a study of Methylmalonic Acidemia and Inborn Errors of Metabolism, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 2,275 participants
- Enrollment target
- 3
- Study locations
Study Summary
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, and developmental delay. The frequency of these complications and their precipitants remain undefined. Furthermore, current treatment protocol outcomes have continued to demonstrate substantial morbidity and mortality in the patient population. Increasingly, solid organ transplantation (liver, and/or kidney) has been used to treat patients. Disordered transport and intracellular metabolism of vitamin B12 produces a distinct group of disorders that feature methylmalonic acidemia as well as (hyper)homocysteinemia. These conditions are named after the corresponding cellular complementation class - (cblC, cblD, cblF, cblJ and cblX) - and are also heterogenous, clinically and biochemically. The genetic disorders underlying cblE and cblG feature an isolated impairment of the activity of methionine synthase, a critical enzyme involved in the conversion of homocysteine to methionine and these disorders feature (hyper)homocysteinemia. Lastly, a group of patients can have increased methylmalonic acid and/or homocysteine in the blood or urine caused by variant(s) in recently identified (ACSF3) and unknown genes. In this protocol, we will clinically evaluate patients with methylmalonic acidemia and cobalamin metabolic defects. Routine inpatient admissions will last up to 4-5 days and involve urine collection, blood drawing, ophthalmological examination, radiological procedures, MRI/MRS, skin biopsies in some, and developmental testing. In a subset of patients who have or will receive renal, hepato- or hepato-renal transplants or have an unusual variant or clinical course and have MMA,
Primary Outcome
assessing the complications of MMA during a week long evaluation with imaging, labs and consultations
Conditions Studied
Study Locations (3)
District of Columbia
- Children's National Medical Center - Washington D.C.
Maryland
- National Institutes of Health Clinical Center - Bethesda
Pennsylvania
- UPMC Children's Hospital of Pittsburgh - Pittsburgh
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 2,275 participants |
| Start Date | 2004-06-07 |
What NCT00078078 shows while recruiting
NCT00078078 is an observational study that tracks outcomes without assigning an intervention. Its 2,275 participants enrollment target places it among the larger protocols in the corpus, above the 48-participant average among 6 other Methylmalonic Acidemia trials with a reported enrollment target (4640% higher).
The record links to 3 conditions, with Methylmalonic Acidemia appearing as the primary indexed condition, and to 0 interventions.
NCT00078078 reports a single indexed study location in District of Columbia, Maryland, Pennsylvania.
Frequently Asked Questions
What is clinical trial NCT00078078 about?
NCT00078078 is a clinical study titled "Clinical and Laboratory Study of Methylmalonic Acidemia". Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarc...
What is the current status of trial NCT00078078?
This trial is currently recruiting. The enrollment target is 2,275 participants. The study started on 2004-06-07.
What conditions does trial NCT00078078 study?
This clinical trial studies the following conditions: Methylmalonic Acidemia, Inborn Errors of Metabolism, Organic Acidemia.
Who is sponsoring clinical trial NCT00078078?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00078078 being conducted?
This trial has 3 study locations across District of Columbia, Maryland, Pennsylvania. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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