RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1933

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

low confidenceDisorder

Also known as: Booth-Haworth-Dilling syndrome · Mitochondrial encephalomyopathy-aminoacidopathy syndrome · mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Publications

1,513

Trials

0

Interventional, condition-specific

Researchers

194

Distinct authors in sample

Gene link

SUCLA2

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare DNA depletion syndrome characterized by or onset of global , , , neurologic decline, sensorineural deafness, and movement disorder. , external ophthalmoplegia, polyneuropathy, , and renal tubular dysfunction have also been reported. Brain imaging may show T2-weighted hyperintensities in the basal ganglia, and laboratory examination may reveal lactic and mild methylmalonic aciduria.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

booth-Haworth-Dilling syndrome · mitochondrial DNA depletion syndrome 5 · mitochondrial DNA depletion syndrome type 5 · mitochondrial encephalomyopathy-aminoacidopathy syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — SUCLA2

  2. LiteraturePresent

    1,513 matched papers (1,066 in last 10 years) Source

  3. Phenotype characterisedPresent

    67 HPO annotations (e.g. Cerebral calcification; Elevated circulating creatine kinase activity; Aminoaciduria) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (SUCLA2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

67

Associated phenotypes · MONDO:0012791

  • Cerebral calcification
  • Elevated circulating creatine kinase activity
  • Aminoaciduria
  • Short stature
  • Cachexia

Showing 5 of 67 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,513

1,513 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,513 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,066 in the last 10 years · low confidence

Phrase hits: 22 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

194

Distinct author names in 22 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    El-Hattab AW2 papers · 1993

    Associate Professor, Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates

    Papers in Europe PMC
  2. 02
    Scaglia F2 papers · 1993

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

    Papers in Europe PMC
  3. 03
    Al Asmar D1 paper · 2025

    Division of Inborn Errors of Metabolism, Department of Pediatrics, Children's University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria.

    Papers in Europe PMC
  4. 04
    Al Balwi M1 paper · 2016

    King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  5. 05
    Al Khudari R1 paper · 2025

    Department of Pediatrics, Children's University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria. alkhudarirawan@gmail.com.

    Papers in Europe PMC
  6. 06
    Al Mutairi F1 paper · 2016

    Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Al Othaim A1 paper · 2016

    King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Alfadhel M1 paper · 2016

    Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia. dralfadhelm@gmail.com.

    Papers in Europe PMC
  9. 09
    Alfares AA1 paper · 2016

    Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Alzaben A1 paper · 2016

    Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

Broader category mitochondrial DNA depletion syndrome, encephalomyopathic form also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: mitochondrial DNA depletion syndrome, encephalomyopathic form

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

("Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "Booth-Haworth-Dilling syndrome" OR "Mitochondrial encephalomyopathy-aminoacidopathy syndrome" OR "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "mitochondrial DNA depletion syndrome 5" OR "mitochondrial DNA depletion syndrome type 5") OR ("SUCLA2" OR "SUCLA2 syndrome" OR "SUCLA2-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "Booth-Haworth-Dilling syndrome" OR "Mitochondrial encephalomyopathy-aminoacidopathy syndrome" OR "mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria" OR "mitochondrial DNA depletion syndrome 5" OR "mitochondrial DNA depletion syndrome type 5"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"mitochondrial DNA depletion syndrome, encephalomyopathic form"

Query health: ok — strategies attempted: phrase; with hits: phrase

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
  • Publication count (1513) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:33:00.291Z