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ORPHA:411634

Juvenile nephropathic cystinosis

high confidenceSubtype of disorder

Also known as: Intermediate cystinosis · Juvenile cystinosis

Publications

96

59.5th percentile

Trials

3

Interventional, condition-specific

Researchers

495

Distinct authors in sample

Gene link

CTNS

Strong

Readiness

3/6

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — CTNS

  2. LiteraturePresent

    96 matched papers (68 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 trialPresent

    3 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 (CTNS).

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?

96

96 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.

96 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).

68 in the last 10 years · high confidence · 59.5th percentile (publications denominator)

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?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  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?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 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 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

high confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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: 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

Observational and natural-history studies

1 observational study matches 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

Open the complete matched search on ClinicalTrials.gov

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.

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

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"

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" OR "CTNS"

Recall-expansion terms: CTNS

Interventional trials matched via: 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: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"nephropathic cystinosis"

Query health: ok — strategies attempted: phrase, mesh, 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 2026-07-27T15:41:31.476Z