Disease · MONDO_0016239

cystinosis

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. cystinosis. Diseases, record MONDO_0016239. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0016239

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: cystinosis; Open Targets
Open Targets ID: MONDO_0016239; Open Targets
Other names: Protein defect of cystin transport, cystine storage disease; Open Targets
Disease Ontology: DOID:1064; Disease Ontology
MeSH: D003554; MeSH
NCI Thesaurus: C2976; NCI Thesaurus
Orphanet: ORPHA:213; Orphanet
Highest stage of its drugs: Approval, for 3 of its 5 drugs, from DailyMed, EMA Human Drugs and PMDA; Open Targets

Drugs5

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
CYSTEAMINE BITARTRATE	CHEMBL1200577	Small molecule	Approval	DailyMed and EMA Human Drugs	10	6	6	Drugs and targets
CYSTEAMINE	CHEMBL602	Small molecule	Approval	EMA Human Drugs	7	4	4	Drugs and targets
CYSTEAMINE HYDROCHLORIDE	CHEMBL1256137	Small molecule	Approval	DailyMed and PMDA	3	0	0	Drugs and targets
ACETYLCYSTEINE	CHEMBL600	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	0	Drugs and targets
SOMATROPIN	CHEMBL1201621	Protein	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets1

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes
GHR	Growth hormone receptor	1	Growth hormone receptor agonist	Phase 1/2	https://conductscience.org/library/genes/2690

Source Drugs and targets

Trials11

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00001213	Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis	Phase 2	328	2014-07-22	Cystinosis	CYSTEAMINE	Its record names the disease	ClinicalTrials.gov
NCT01197378	Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)	Phase 3	60	2018-07-24	Cystinosis	CYSTEAMINE BITARTRATE	Its record names the disease	ClinicalTrials.gov
NCT01000961	Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis	Phase 3	43	2014-11-19	Cystinosis	CYSTEAMINE BITARTRATE	Its record names the disease	ClinicalTrials.gov
NCT01733316	Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis	Phase 3	41	2017-05-24	Cystinosis	CYSTEAMINE BITARTRATE	Its record names the disease	ClinicalTrials.gov
NCT01744782	Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis	Phase 3	17	2018-01-16	Cystinosis	CYSTEAMINE BITARTRATE	Its record names the disease	ClinicalTrials.gov
NCT00872729	Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis	Phase 1/2	9	2014-10-28	Cystinosis	CYSTEAMINE BITARTRATE	Its record names the disease	ClinicalTrials.gov
NCT00359684	Use of Cysteamine in the Treatment of Cystinosis		330		Cystinosis	CYSTEAMINE	Its record names the disease	ClinicalTrials.gov
NCT00001736	New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis	Phase 1	51		Cystinosis	CYSTEAMINE	Its record names the disease	ClinicalTrials.gov
NCT05994534	PK and PD Study of NPI-001 and Cysteamine Bitartrate	Phase 1/2	8		Cystinosis	CYSTEAMINE BITARTRATE	Its record names the disease	ClinicalTrials.gov
NCT04125927	Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)	Phase 3	5		Cystinosis	CYSTEAMINE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 11

See all 11 trials

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
RP103 vs Cystagon®: serious adverse events	6 of 43	1 of 41	84	NCT01000961	Trial comparisons
Cystagon® vs RP103: serious adverse events	0 of 9	0 of 9	18	NCT00872729	Trial comparisons

Papers from its trials1

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it
24948347	DERIVED	1

Source PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0016239

GET https://conductscience.org/api/diseases/v1/MONDO_0016239/drugs

API reference For AI assistants