methylmalonic aciduria and homocystinuria type cblC
MONDO:0010184
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
Disease research snapshot
CureCurrent currently links 1 distinct registered clinical trials to methylmalonic aciduria and homocystinuria type cblC through its MONDO disease mappings. 0 of those studies have the registry status “recruiting” (0%). These are registry statuses, not availability guarantees, study results or evidence of effectiveness.
The leading sponsor shown in this linked dataset is RTI International, associated with 1 distinct linked trials. This is a count of records, not a ranking of the sponsor's scientific quality.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
methylmalonic aciduria and homocystinuria type cblC
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Clinical trials
1 shownDrugs being studied
Leading sponsors
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.