ORPHA:330054
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Also known as: Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
961
Trials
0
Interventional, condition-specific
Researchers
12
Distinct authors in sample
Gene link
GFER
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, characterized by cataract, muscular that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic . Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013116
- MeSH:C567769
- OMIM:613076
- UMLS:C2751320
Additional Mondo synonyms (3)
congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome · congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome · myopathy, mitochondrial progressive, with congenital cataract and developmental delay
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GFER
- LiteraturePresent
961 matched papers (528 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Cataract; Global developmental delay; Developmental cataract) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (GFER).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0013116
- Cataract
- Global developmental delay
- Developmental cataract
- Decreased activity of mitochondrial respiratory chain
- Myopathy
Showing 5 of 19 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
961
961 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.
961 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).
528 in the last 10 years · low confidence
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
12
Distinct author names in 2 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.
- 01An W1 paper · 2022
Department of Cell Biology, Capital Medical University and the Municipal Key Laboratory for Liver Protection and Regulation of Regeneration, Beijing, China.
Papers in Europe PMC - 02Dong Y1 paper · 2022
Department of Science and Technology, Beijing Youan Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 03Feng Y1 paper · 2022
Department of Science and Technology, Beijing Youan Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 04Goedhart C1 paper · 2020
Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 05Greenway SC1 paper · 2020
Departments of Pediatrics, Cardiac Sciences and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute and Libin Cardiovascular Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 06Innes AM1 paper · 2020
Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 07Khan A1 paper · 2020
Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T3B 6A8, Canada.
Papers in Europe PMC - 08Lines M1 paper · 2020
Departments of Pediatrics and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 09Pfeffer G1 paper · 2020
Departments of Clinical Neurosciences and Medical Genetics, Cumming School of Medicine, Hotchkiss Brain Institute, Alberta Child Health Research Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
Papers in Europe PMC - 10Shutt TE1 paper · 2020
Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, AB T2N 4N1, Canada.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 33 · after dedupe 33 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 33 · dropped 0 · fetched 2026-07-30
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).
Uncertain / not reviewed (33)
- ctis·2025-521145-24-01·Authorised·A Phase 1/2, Open-Label Study to Evaluate the Safety and Efficacy of Autologous CD19-specific Chimeric Antigen Receptor T cells (CABA-201) in Subjects with Active Idiopathic Inflammatory Myopathy or Active Juvenile Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524100-29-00·Authorised·An Open-Label, Phase 1b, Multiple Ascending Dose Study of OM336 in Participants with Active Sjogren’s Disease or Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522343-18-00·Authorised, recruiting·A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial to Assess the Efficacy and Safety of surlorian (ARM210, S48168) in Adults with Autosomal Dominant RYR1-Related Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-523213-29-00·Authorised·A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants with Invasive Ventilator-dependent X-linked Myotubular Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522361-30-00·Authorised, recruiting·A Phase III, randomised, double-blind, placebo-controlled, parallel-group, pivotal trial to assess the efficacy and safety of sonlicromanol in adult subjects with a genetically confirmed mitochondrial DNA tRNALeu(UUR) m.3243A>G variant.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522857-20-00·Authorised, ongoing·An open label, phase I/II study investigating the safety and efficacy of the bispecific T-cell engaging antibody cizutamig (BCMAxCD3) in patients with immune-mediated inflammatory diseases – the SPLENDID Trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521530-28-00·Authorised, ongoing·A phase I/II study of CAR-T cells in AutoiMmune disease resistant to B cell Abrogation - CARAMBA
skipped — LLM skipped (--skip-llm)
- ctis·2025-520461-41-00·Authorised, ongoing·An open-label Phase 2a study to evaluate the safety and efficacy of AlloNK®, an allogeneic cord blood-derived NK cell therapy, in combination with rituximab in relapsing forms of B-cell dependent rheumatologic diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-520222-11-00·Authorised, recruiting·A Long-Term Follow-up Study for Subjects Previously Treated with A Century Therapeutics Cellular Therapy Product
skipped — LLM skipped (--skip-llm)
- ctis·2024-517681-41-00·Authorised, ongoing·A Phase 1 Study of Healthy Donor CD19-targeted Allogeneic CAR T Cells in Participants with Severe, Refractory Autoimmune Diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-519015-34-00·Authorised, ongoing·A Study to Investigate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AZD5492 in Adult Participants with Systemic Lupus Erythematosus or Idiopathic Inflammatory Myopathies or Rheumatoid Arthritis.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519532-16-00·Authorised, ongoing·A phase I/II study of CAR-expressing Allogenic iPSC derived NK cells for treatment of autoiMmune disease by B cELl depletion - CARAMEL
skipped — LLM skipped (--skip-llm)
- ctis·2024-518797-13-00·Cancelled·The CALiPSO-1 Study: A Study of CNTY-101, a CD19-targeted CAR iNK Cell Product, in
Participants with Refractory B cell-mediated Autoimmune Diseases
skipped — LLM skipped (--skip-llm)
- ctis·2024-518528-54-00·Authorised, ongoing·A Phase 1 Study of the Safety and Preliminary Efficacy of CTX112 in Adult Subjects With Refractory Autoimmune Disease.
skipped — LLM skipped (--skip-llm)
- ctis·2024-514289-38-00·Authorised, ongoing·A phase III, double blind, randomised, two arms, parallel study to compare the efficacy and safety of a 12-week administration of two fixed-dose combinations (Rosuvastatin 20 mg and Fenofibrate 160 mg versus Pravastatin 40 mg and Fenofibrate 160 mg (Pravafenix®)) in patients with mixed dyslipidaemia.
skipped — LLM skipped (--skip-llm)
- ctis·2024-511346-39-00·Authorised, recruiting·Phase IB open label, long-term, extension basket trial of RAY121 to inhibit classical complement pathway in immunological diseases (RAINBOW-LTE trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514648-10-00·Authorised, ongoing·C0251010 - A PHASE 3, MULTI-CENTER, OPEN-LABEL EXTENSION STUDY TO INVESTIGATE THE LONG-TERM SAFETY, TOLERABILITY, AND EFFICACY OF DAZUKIBART IN PARTICIPANTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES (INCLUDING PARTICIPANTS WITH DERMATOMYOSITIS OR POLYMYOSITIS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515129-27-00·Authorised·Assess efficacy of intra-arterial autologous myogenic stam cell therapy for m.3243A>G mutation carriers
skipped — LLM skipped (--skip-llm)
- ctis·2024-516057-42-00·Cancelled·Intravenous immunoglobulin and prednisone vs. prednisone in newly diagnosed myositis: a double blind randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-516819-24-00·Authorised, ongoing·CAR-T cells in systemic B cell mediated autoimmune disease - CASTLE
skipped — LLM skipped (--skip-llm)
- ctis·2024-512785-33-00·Cancelled·A Phase 2/3, Randomized, Double-Blinded, Placebo-Controlled, Parallel-Group, 2-Arm, Multicenter, Operationally Seamless Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics, Pharmacokinetics, and Immunogenicity of Efgartigimod PH20 SC in Participants Aged 18 Years and Older With Active Idiopathic Inflammatory Myopathy
skipped — LLM skipped (--skip-llm)
- ctis·2024-510763-35-00·Authorised, ongoing·An Off-Label Single Arm Clinical Study to Evaluate the Efficacy and Safety of doxecitine and doxribtimine in Adult Subjects with Thymidine Kinase 2 (TK2) Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2023-507692-21-00·Authorised, ongoing·Phase Ib Open Label Basket Trial of RAY121 to Inhibit Classical Complement Pathway in Immunological Diseases (RAINBOW Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2024-511263-28-00·Cancelled·Efficacy, safety, tolerability and quality of life of ongoing individually optimized lipid-lowering therapy with or without inclisiran (KJX839) – a randomized, placebo-controlled, double-blind multicenter phase IV study in participants with hypercholesterolemia
skipped — LLM skipped (--skip-llm)
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 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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.
("Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" OR "Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" OR "myopathy, mitochondrial progressive, with congenital cataract and developmental delay") OR (MESH:"Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay") OR ("GFER" OR "GFER syndrome" OR "GFER-related")MeSH descriptor terms unioned into the query: Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome" OR "Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome" OR "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" OR "Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (961) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T14:05:28.142Z