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ORPHA:411634

Juvenile nephropathic cystinosis

low confidenceSubtype of disorder

Also known as: Intermediate cystinosis · Juvenile cystinosis

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

Publications

2,578

Trials

0

Interventional, condition-specific

Researchers

495

Distinct authors in sample

Gene link

CTNS

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, , muscular and cerebral involvement) are less severe than in the form of the disease.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

cystinosis, late-onset juvenile or adolescent nephropathic · intermediate cystinosis · juvenile cystinosis · juvenile nephropathic cystinosis

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — CTNS

  2. LiteraturePresent

    2,578 matched papers (1,605 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Renal insufficiency; Aminoaciduria; Abnormal urine potassium concentration) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 3 for broader category nephropathic cystinosis

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 (CTNS).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0009066

  • Renal insufficiency
  • Aminoaciduria
  • Abnormal urine potassium concentration
  • Abnormal cornea morphology
  • Ocular pain

Showing 5 of 49 — 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?

2,578

2,578 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.

2,578 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).

1,605 in the last 10 years · low confidence

Phrase hits: 96 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

495

Distinct author names in 96 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
    Levtchenko E11 papers · 2025

    Division of Pediatric Nephrology, Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium elena.levtchenko@uzleuven.be.

    Papers in Europe PMC
  2. 02
    Gahl WA6 papers · 2026

    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  3. 03
    Antignac C4 papers · 2017

    From the ‡INSERM U1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, Paris, France.

    Papers in Europe PMC
  4. 04
    Levtchenko EN4 papers · 2026

    Department of Pediatric Nephrology, University Hospitals Leuven, Belgium ; Laboratory of Pediatrics, Catholic University Leuven, Leuven, Belgium.

    Papers in Europe PMC
  5. 05
    Veys K4 papers · 2023

    Laboratory of Pediatric Nephrology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  6. 06
    Anikster Y3 papers · 2001

    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892-1830, USA.

    Papers in Europe PMC
  7. 07
    Cherqui S3 papers · 2019

    Department of Pediatrics, Division of Genetics, University of California, 9500 Gilman Drive, MC 0734, La Jolla, San Diego, CA, 92093-0734, USA. scherqui@ucsd.edu.

    Papers in Europe PMC
  8. 08
    Hohenfellner K3 papers · 2021

    Department of Pediatrics, Children's Hospital of Rosenheim, Rosenheim, Germany.

    Papers in Europe PMC
  9. 09
    Otani M3 papers · 2024

    Department of Pathology, Yokohama City University Medical Center, Yokohama, Kanagawa, Japan.

    Papers in Europe PMC
  10. 10
    Thoene J3 papers · 2023

    Department of Pediatrics, University of Michigan, Ann Arbor 48109-0408, USA. jthoene@umich.edu

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

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.

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

Broader category: nephropathic cystinosis

3

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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 2026-07-30

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).

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 Juvenile nephropathic cystinosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Cystinosis as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 3 — high-cost / lifelong therapy with careful selection

Up to ₹50 lakh per patient

Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.

Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. 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.

("Juvenile nephropathic cystinosis" OR "Intermediate cystinosis" OR "Juvenile cystinosis" OR "cystinosis, late-onset juvenile or adolescent nephropathic") OR (MESH:"Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type") OR ("CTNS" OR "CTNS syndrome" OR "CTNS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

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

"Juvenile nephropathic cystinosis" OR "Intermediate cystinosis" OR "Juvenile cystinosis" OR "cystinosis, late-onset juvenile or adolescent nephropathic" OR "Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type"

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

Parent-category trials query:

"nephropathic cystinosis"

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 (2578) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T15:41:31.476Z