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ORPHA:213

Cystinosis

medium confidenceDisorder

Also known as: Protein defect of cystin transport

Publications

6,034

92.3th percentile

Trials

24

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

CTNS

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic , nephropathic juvenile and ocular.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

cystine storage disease · 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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — CTNS

  2. LiteraturePresent

    6,034 matched papers (3,028 in last 10 years) Source

  3. Phenotype characterisedPresent

    217 HPO annotations (e.g. Abnormal tubulointerstitial morphology; Abnormal circulating electrolyte concentration; Renal insufficiency) Source

  4. Animal modelPresent

    8 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 4 EMA designations (1 FDA orphan-indication approval) — e.g. Phosphocysteamine Source

  6. Interventional trialPresent

    24 matched on ClinicalTrials.gov (3 recruiting in sample)

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: Definitive.

Phenotypes (Monarch / HPO)

217

Associated phenotypes · MONDO:0016239

  • Abnormal tubulointerstitial morphology
  • Abnormal circulating electrolyte concentration
  • Renal insufficiency
  • Aminoaciduria
  • Abnormal urine potassium concentration

Showing 5 of 217 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

6

Designations · 1 with FDA orphan-indication approval

  • FDA PhosphocysteamineCystinosis · 1988-09-12 · Not FDA Approved for Orphan Indication
  • EMA cysteamine bitartrate (gastroresistant) (mercaptamine)Treatment of cystinosis · 20/09/2010 · PositiveEMA designation
  • EMA autologous CD34+ cells transduced with a lentiviral RNA vector that results in integrated cDNA encoding for functional cystinosinTreatment of cystinosis · 19/02/2021 · PositiveEMA designation
  • EMA cysteamine hydrochloride (Dropcys)Treatment of cystinosis · 15/10/2014 · PositiveEMA designation
  • EMA cysteamine hydrochloride (Cystadrops)Treatment of cystinosis · 07/11/2008 · PositiveEMA designation
  • FDA Cysteamine hydrochloride (Cystaran)Cystinosis · 1997-08-19

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

5

Drugs / clinical candidates · MONDO_0016239

CTD chemicals (MyDisease.info)

2 associated chemicals · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cysteamine · therapeutic
  • Copper · marker/mechanism

Pathways: Lysosome; Transmembrane transport of small molecules; Transport of inorganic cations/anions and amino acids/oligopeptides; SLC-mediated transmembrane transport; Miscellaneous transport and binding events

MyDisease.info · MONDO:0016239

Literature

Is anyone studying this?

6,034

6,034 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,034 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).

3,028 in the last 10 years · medium confidence · 92.3th percentile (publications denominator)

Phrase hits: 4,698 · MeSH hits: 119

Open Europe PMC search

Who's working on it?

1,078

Distinct author names in 200 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
    Emma F13 papers · 2026

    Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.

    Papers in Europe PMC
  2. 02
    Levtchenko E12 papers · 2026

    Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Cairoli S10 papers · 2026

    Department of Pediatric Specialties and Liver-Kidney Transplantation, Division of Metabolic Biochemistry and Drug Biology, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  4. 04
    Goffredo BM10 papers · 2026

    Department of Pediatric Specialties and Liver-Kidney Transplantation, Division of Metabolic Biochemistry and Drug Biology, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Bellomo F9 papers · 2026

    Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  6. 06
    Devuyst O8 papers · 2026

    Institute of Physiology, University of Zurich, Zurich 8057, Switzerland.

    Papers in Europe PMC
  7. 07
    Taranta A8 papers · 2026

    Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.

    Papers in Europe PMC
  8. 08
    Cherqui S7 papers · 2026

    Department of Pediatrics, Division of Genetics, University of California, San Diego, La Jolla, California, États-Unis.

    Papers in Europe PMC
  9. 09
    De Leo E7 papers · 2026

    Renal Diseases Research Unit, Genetics and Rare Diseases Research Area, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

    Papers in Europe PMC
  10. 10
    Hohenfellner K7 papers · 2026

    Pediatric Nephrology, RoMed Klinikum Rosenheim, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

24

interventional trials for this specific condition

24 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

24 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.4th percentile).

medium confidence · 95.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

24 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

18 observational studies match 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Cystinosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Directly listed under NPRD Group 3.

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.

("Cystinosis" OR "Protein defect of cystin transport" OR "Protein defect of the cystin transport" OR "cystine storage disease") OR (MESH:"Cystinosis") OR ("CTNS" OR "CTNS syndrome" OR "CTNS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cystinosis

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

"Cystinosis" OR "Protein defect of cystin transport" OR "Protein defect of the cystin transport" OR "cystine storage disease"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 24 interventional · 18 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:55:08.177Z