Recruiting

Methylmalonic Acidemia and Cobalamin Defects Evaluation in Pediatric Patients

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Study AimThis study aims to observe and assess long-term complications in children with methylmalonic acidemia and cobalamin defects using imaging, lab tests, and consultations over a week.
What is being collected

Data Collection

Collected from today forward - Prospective
Who is being recruted

Amino Acid Metabolism, Inborn Errors
+10

+ Avitaminosis
+ Deficiency Diseases
From 1 Months to 115 Years
+27 Eligibility Criteria
See all eligibility criteria
How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.
Observational
Study Start: June 2004
See protocol details

Summary

Principal SponsorNational Human Genome Research Institute (NHGRI)
Study ContactJennifer L Sloan, Ph.D.More contacts
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner
Study start date: June 7, 2004Actual date on which the first participant was enrolled.

This study focuses on understanding methylmalonic acidemia (MMA) and related disorders, which are inherited conditions that affect how the body processes certain substances. People with these conditions often face serious health problems like metabolic strokes, kidney failure, and developmental delays. The study aims to explore the different ways these disorders manifest and to investigate the underlying genetic causes. The goal is to find new biomarkers and better understand these conditions to improve future treatments. Participants include those already evaluated at the NIH, referrals from doctors, and individuals directed from various support groups. Participants will undergo several evaluations during their stay, which can last up to five days. These evaluations include collecting urine and blood samples, eye exams, imaging tests like MRIs, and sometimes skin biopsies. The participants' development will also be assessed through testing. The study will primarily look at long-term complications and aims to find connections between clinical symptoms, biochemical markers, and genetic data. Some participants may only contribute tissue samples or share medical data remotely through telemedicine. The study's findings will help to paint a clearer picture of these conditions and pave the way for future research.

Official TitleClinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders 
NCT00078078
Principal SponsorNational Human Genome Research Institute (NHGRI)
Study ContactJennifer L Sloan, Ph.D.More contacts
Last updated: January 14, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details
2275 patients to be enrolledTotal number of participants that the clinical trial aims to recruit.
Cohort
These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

How participants are selected
Participants are selected without using randomization. They may be chosen based on convenience, access, or willingness to participate. This approach is common when random selection isn’t practical.
Another way to select participants is through a probability sample, where participants are chosen randomly, so everyone has an equal chance to be included.

How information is collected
Researchers start collecting data from the present day forward, following participants over time to observe outcomes. This approach helps identify how exposures or behaviors may lead to health events in the future.Other Ways to Collect Data
Retrospective: These studies use existing medical records or past data.
Cross-sectional: These studies collect data at one single point in time.
Others: Some studies use a mix of approaches or less common designs depending on the research goal.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
Any sexBiological sex of participants that are eligible to enroll.
From 1 Months to 115 YearsRange of ages for which participants are eligible to join.
Healthy volunteers allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Amino Acid Metabolism, Inborn Errors
Avitaminosis
Deficiency Diseases
Malabsorption Syndromes
Metabolic Diseases
Metabolism, Inborn Errors
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Nutrition Disorders
Nutritional and Metabolic Diseases
Vitamin B Deficiency
Hyperhomocysteinemia
Genetic Diseases, Inborn
Malnutrition
Criteria
16 inclusion criteria required to participate
Patients of any sex, ethnicity, and over 1 month of age with biochemical or genetic diagnosis of methylmalonic acidemia or cobalamin disorders are eligible to enroll in this protocol.
Children ages 1 month to 2 years or under 12 kg will be reviewed by the Pediatric Consult Service prior to scheduling and if approved will be evaluated in the outpatient clinic for limited evaluations blood draw, eye exam, consults.
Affected infants that are not approved by the Pediatric Consult Service or are not stable enough to travel may enroll remotely by telemedicine to include in natural history data collection, such as medical history and laboratory result sharing and interpretation, molecular genetic testing, genetic counseling, nutrition consult with dietary food log analysis, neurocognitive assessments.
Affected individuals of any of the other disorders under study, younger than 2 years may be evaluated at Children s National Medical Center (CNMC) as part of an evolving agreement in the Translational Program in Pediatrics, if they are deemed eligible for participation by the NIH team and the CNMC team.

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11 exclusion criteria prevent from participating
The PI/AI may decline to enroll a patient for reasons such as being medically unstable, residing in a hospital, sub-optimal metabolic control or for any concerns arising after review of the laboratory and clinical data;
any patient who requires dialysis once or more/week and weighs \<40 kg;
any patient who is being treated for an intercurrent infection with antibiotics or has evidence of an acute infection and has metabolic symptoms;
any patient who does not have a regular/local metabolic, genetic or endocrine physician and/or a family physician, pediatrician, or internist;

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Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Study Objectives
Study Objectives
Primary Objectives

assessing the complications of MMA during a week long evaluation with imaging, labs and consultations

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
This study has 3 locations
Recruiting
National Institutes of Health Clinical CenterBethesda, United StatesSee the location
Recruiting
UPMC Children's Hospital of PittsburghPittsburgh, United States
Completed
Children's National Medical CenterWashington D.C., United States
Recruiting
3 Study Centers
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