ORPHA:79282
Methylmalonic acidemia with homocystinuria, type cblC
Also known as: CblC defect · Cobalamin C defect · Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC · Methylmalonic aciduria with homocystinuria, type cblC
Publications
259
76th percentile
Trials
2
Interventional, condition-specific
Researchers
1,362
Distinct authors in sample
Gene link
MMACHC, PRDX1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, , , intellectual deficit and .
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010184
- OMIM:277400
- UMLS:C1848561
- NCIT:C142174
Additional Mondo synonyms (6)
cblC defect · cobalamin C defect · cobalamin c disease · combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC · methylmalonic aciduria and homocystinuria type cblC · methylmalonic aciduria with homocystinuria, type cblC
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MMACHC, PRDX1
- LiteraturePresent
259 matched papers (170 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MMACHC, PRDX1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
259
259 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
259 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
170 in the last 10 years · high confidence · 76th percentile (publications denominator)
Phrase hits: 259 · MeSH hits: 0
Who's working on it?
1,362
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Dionisi-Vici C14 papers · 2025
Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
Papers in Europe PMC - 02Huemer M11 papers · 2024
Department of Pediatrics, Landeskrankenhaus, Feldkirch, Austria. martina.huemer@lkhf.at
Papers in Europe PMC - 03Martinelli D9 papers · 2025
Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
Papers in Europe PMC - 04Han L8 papers · 2024
Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 05Liu Y8 papers · 2024
Department of Pediatric Cardiology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 06Zhang Y8 papers · 2025
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Papers in Europe PMC - 07Baumgartner MR7 papers · 2024
Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.
Papers in Europe PMC - 08Fowler B7 papers · 2016
Division of Metabolic Diseases and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. Brian.fowler@kispi.uzh.ch.
Papers in Europe PMC - 09Liu X7 papers · 2025
Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang, China. 18940251973@163.com.
Papers in Europe PMC - 10Zhang H7 papers · 2024
Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 15 trials are registered for methylmalonic acidemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: methylmalonic acidemia
15
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05295433·RECRUITING·An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
Conditions: Methylmalonic Acidemia·Matched via name phrase
- NCT07163364·NOT YET RECRUITING·A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
Conditions: Methylmalonic Acidemia (MMA)·Matched via name phrase
- NCT06664840·NOT YET RECRUITING·MyRareDiet A Novel Diet Tracking Tool
Conditions: Urea Cycle Disorder · Propionic Aciduria · Maple Syrup Urine Disease · Methylmalonic Acidemia·Matched via name phrase
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT07177742·RECRUITING·Prospective Cohort Study on the Relationship Between Exosomal Peroxiredoxin 1 (PRDX1) and Postoperative Liver Metastasis
Conditions: Colorectal Cancer · Liver Metastases From Colorectal Cancer · Pathology · Exosome·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Methylmalonic acidemia as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 2 — long-term / lifelong lower-cost interventions
NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.
Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Methylmalonic acidemia with homocystinuria, type cblC" OR "CblC defect" OR "Cobalamin C defect" OR "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" OR "Methylmalonic aciduria with homocystinuria, type cblC" OR "cobalamin c disease" OR "methylmalonic aciduria and homocystinuria type cblC"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Methylmalonic acidemia with homocystinuria, type cblC" OR "CblC defect" OR "Cobalamin C defect" OR "Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC" OR "Methylmalonic aciduria with homocystinuria, type cblC" OR "cobalamin c disease" OR "methylmalonic aciduria and homocystinuria type cblC" OR "MMACHC" OR "PRDX1"
Recall-expansion terms: MMACHC, PRDX1
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"methylmalonic acidemia"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:12:39.753Z