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ORPHA:363400

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

high confidenceDisorder

Also known as: Celia disease · Celia encephalopathy · Severe neurodegenerative syndrome due to BSCL2 deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

7

21.7th percentile

Trials

0

Interventional, condition-specific

Researchers

56

Distinct authors in sample

Gene link

BSCL2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disease characterized by severe (notably speech delay), psychomotor and cognitive regression (associated with variable degrees of lipodystrophy, , hypertriglyceridemia and muscular hypertrophy), and mild to severe . Patients present with gait , spasticity, tretraplegia or tetraparesis, loss of language, tremors as well as early-onset subtle myoclonic that develops into refractory tonic-clonic and other forms of as the disease progress.

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 (1)

severe neurodegenerative syndrome due to BSCL2 deficiency

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — BSCL2

  2. LiteraturePresent

    7 matched papers (6 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 125 for broader category lipodystrophy

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 (BSCL2).

GenCC classification: Strong.

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?

7

7 papers have ever been indexed 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.

7 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).

6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)

Phrase hits: 7 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

56

Distinct author names in 7 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
    Aguiar P1 paper · 2019

    Division of Nuclear Medicine, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.

    Papers in Europe PMC
  2. 02
    Ajina R1 paper · 2026

    Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  3. 03
    Aldriwesh MG1 paper · 2026

    Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  4. 04
    Alghoribi MF1 paper · 2026

    Infectious Disease Research Department, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  5. 05
    Alotibi RS1 paper · 2026

    Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  6. 06
    Alqurainy N1 paper · 2026

    Infectious Disease Research Department, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Alrabiah S1 paper · 2026

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

    Papers in Europe PMC
  8. 08
    Álvarez-Escudero J1 paper · 2019

    Anesthesia and Reanimation Department, Hospital Clínico Universitario de Santiago de Compostela, Santiago, Spain.

    Papers in Europe PMC
  9. 09
    Arafah AM1 paper · 2026

    King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  10. 10
    Araújo-Vilar D1 paper · 2019

    Thyroid and Metabolic Diseases Unit, Biomedical Research Institute (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Santiago, Spain. david.araujo@usc.es.

    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). 125 trials are registered for lipodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

125 interventional trials matched lipodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: lipodystrophy

125

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

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 2026-07-26

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.

"Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome" OR "Celia disease" OR "Celia encephalopathy" OR "Severe neurodegenerative syndrome due to BSCL2 deficiency"

Run this search on Europe PMC

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

"Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome" OR "Celia disease" OR "Celia encephalopathy" OR "Severe neurodegenerative syndrome due to BSCL2 deficiency" OR "BSCL2"

Recall-expansion terms: BSCL2

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

Parent-category trials query:

"lipodystrophy"

Query health: suspect — strategies attempted: phrase, recall-expansion; 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

Ingested 2026-07-27T14:33:52.906Z