Cystinosis

Summary

Cystinosis (MONDO:0016239) is a disease caused by CTNS (GenCC Definitive), with 3 cohort genes and 38 clinical trials. Top therapeutic interventions include cysteamine, fludarabine phosphate, and elx-02.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal gene: CTNS (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 159
• Phenotypes (HPO): 56
• Clinical trials: 38

Clinical features

Epidemiology

Prevalence records

10 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000	0.75	Worldwide	Validated
Point prevalence	1-9 / 100 000	1.5	Europe	Validated
Prevalence at birth	1-9 / 1 000 000	0.5	Europe	Validated
Prevalence at birth	1-9 / 1 000 000	0.31	France	Validated
Prevalence at birth	1-9 / 1 000 000	0.59	Germany	Validated
Prevalence at birth	1-9 / 100 000	2.1	United Kingdom	Validated
Prevalence at birth	1-9 / 1 000 000	0.52	Australia	Validated
Prevalence at birth	1-9 / 1 000 000	0.87	Denmark	Validated
Prevalence at birth	1-9 / 1 000 000	0.38	Sweden	Validated
Prevalence at birth	1-9 / 100 000	1.6	Specific population	Validated

Signs & symptoms

Clinical features (HPO)

56 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000093	Proteinuria	Very frequent (80-99%)
HP:0000112	Nephropathy	Very frequent (80-99%)
HP:0000124	Renal tubular dysfunction	Very frequent (80-99%)
HP:0000613	Photophobia	Very frequent (80-99%)
HP:0000821	Hypothyroidism	Very frequent (80-99%)
HP:0000823	Delayed puberty	Very frequent (80-99%)
HP:0001324	Muscle weakness	Very frequent (80-99%)
HP:0001508	Failure to thrive	Very frequent (80-99%)
HP:0001944	Dehydration	Very frequent (80-99%)
HP:0001959	Polydipsia	Very frequent (80-99%)
HP:0001994	Renal Fanconi syndrome	Very frequent (80-99%)
HP:0002013	Vomiting	Very frequent (80-99%)
HP:0002148	Hypophosphatemia	Very frequent (80-99%)
HP:0002900	Hypokalemia	Very frequent (80-99%)
HP:0003198	Myopathy	Very frequent (80-99%)
HP:0003355	Aminoaciduria	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0007957	Corneal opacity	Very frequent (80-99%)
HP:0009806	Nephrogenic diabetes insipidus	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0100651	Type I diabetes mellitus	Very frequent (80-99%)
HP:0000083	Renal insufficiency	Frequent (30-79%)
HP:0000121	Nephrocalcinosis	Frequent (30-79%)
HP:0000135	Hypogonadism	Frequent (30-79%)
HP:0000488	Retinopathy	Frequent (30-79%)
HP:0000585	Band keratopathy	Frequent (30-79%)
HP:0000787	Nephrolithiasis	Frequent (30-79%)
HP:0001510	Growth delay	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0002748	Rickets	Frequent (30-79%)
HP:0002749	Osteomalacia	Frequent (30-79%)
HP:0002901	Hypocalcemia	Frequent (30-79%)
HP:0003076	Glycosuria	Frequent (30-79%)
HP:0003109	Hyperphosphaturia	Frequent (30-79%)
HP:0003155	Elevated circulating alkaline phosphatase concentration	Frequent (30-79%)
HP:0003458	EMG: myopathic abnormalities	Frequent (30-79%)
HP:0011968	Feeding difficulties	Frequent (30-79%)
HP:0012072	Aciduria	Frequent (30-79%)
HP:0001942	Metabolic acidosis	Occasional (5-29%)
HP:0000027	Azoospermia	Occasional (5-29%)
HP:0000505	Visual impairment	Occasional (5-29%)
HP:0001252	Hypotonia	Occasional (5-29%)
HP:0001256	Intellectual disability, mild	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0001409	Portal hypertension	Occasional (5-29%)
HP:0001738	Exocrine pancreatic insufficiency	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0001952	Glucose intolerance	Occasional (5-29%)
HP:0002019	Constipation	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cystinosis
Mondo ID	MONDO:0016239
MeSH	D003554
Orphanet	213
DOID	DOID:1064
ICD-10-CM	E72.04
ICD-11	733715856
NCIT	C2976
SNOMED CT	190681003
UMLS	C4316899
MedGen	1384792
GARD	0006236
MedDRA	10011777
NORD	1028
Is cancer (heuristic)	no

Also known as: cystine diathesis · cystine disease · cystine storage disease · Cystinoses · cystinosis · Protein defect of cystin transport

Data availability: 159 ClinVar variants · 1 GenCC gene-disease record · 5 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › lysosomal storage disease › inborn disorder of lysosomal amino acid transport › cystinosis

Related subtypes (1): free sialic acid storage disease

Subtypes (2): ocular cystinosis, nephropathic cystinosis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

159 retrieved; paginated sample, class counts are floors:

38 uncertain significance, 36 pathogenic, 25 pathogenic/likely pathogenic, 18 likely pathogenic, 17 likely benign, 12 conflicting classifications of pathogenicity, 8 benign, 4 benign/likely benign, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
1020638	NM_004937.3(CTNS):c.635C>T (p.Ala212Val)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067346	NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1425663	NM_004937.3(CTNS):c.699_700del (p.Ser234fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
1451713	NM_004937.3(CTNS):c.970+5G>A	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1452938	NM_004937.3(CTNS):c.1000del (p.Thr334fs)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1698582	NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1705665	NM_004937.3(CTNS):c.751_752del (p.Thr251fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188714	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188718	NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188834	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
188893	NM_004937.3(CTNS):c.225+5_225+6delinsCC	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189020	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189067	NM_004937.3(CTNS):c.561+1del	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21438	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21439	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21440	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
21441	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
21442	NM_004937.3(CTNS):c.559_561+24del	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2429208	NM_004937.3(CTNS):c.1027_1038del (p.Ile343_Asp346del)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2501161	NC_000017.10:g.(?_3539761)_3561464del	CTNS	Pathogenic	criteria provided, single submitter
253205	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS	Pathogenic	criteria provided, multiple submitters, no conflicts
253206	NM_004937.3(CTNS):c.257_258del (p.Ser86fs)	CTNS	Pathogenic	criteria provided, single submitter
253207	NM_004937.2:c.661insT	CTNS	Pathogenic	no assertion criteria provided
253208	NM_004937.3(CTNS):c.91dup (p.Val31fs)	CTNS	Pathogenic	no assertion criteria provided
253209	NM_004937.3(CTNS):c.120del (p.Asn41fs)	CTNS	Pathogenic	no assertion criteria provided
2577044	NM_004937.3(CTNS):c.741del (p.Phe247fs)	CTNS	Pathogenic	criteria provided, single submitter
267306	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
267310	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2681007	NM_004937.3(CTNS):c.225+3A>T	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2681026	NM_004937.3(CTNS):c.955C>T (p.Gln319Ter)	CTNS	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CTNS	Definitive	Autosomal recessive	nephropathic cystinosis	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CTNS	Orphanet:411629	Infantile nephropathic cystinosis
CTNS	Orphanet:411634	Juvenile nephropathic cystinosis
CTNS	Orphanet:411641	Ocular cystinosis

Cohort genes → proteins

3 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CTNS	HGNC:2518	ENSG00000040531	O60931	Cystinosin	gencc,clinvar
TAX1BP3	HGNC:30684	ENSG00000213977	O14907	Tax1-binding protein 3	clinvar
CTNS-AS1	HGNC:56090	ENSG00000262903		CTNS antisense RNA 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CTNS	Cystinosin	Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes.
TAX1BP3	Tax1-binding protein 3	May regulate a number of protein-protein interactions by competing for PDZ domain binding sites.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.33

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	1	25.9×	0.114
Scaffold/PPI	1	5.8×	0.246
Other/Unknown	1	0.6×	0.914

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CTNS	Transporter	yes		LC_transporter, PQ-loop_rpt
TAX1BP3	Scaffold/PPI	no	3.5.1.2	PDZ, Tax1-binding_p3, PDZ_sf
CTNS-AS1	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

2 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right adrenal gland cortex	2
left adrenal gland cortex	1
right adrenal gland	1
apex of heart	1
esophagus mucosa	1
tibial nerve	1
male germ line stem cell (sensu Vertebrata) in testis	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CTNS	251	ubiquitous	marker	right adrenal gland cortex, left adrenal gland cortex, right adrenal gland
TAX1BP3	134	ubiquitous	marker	tibial nerve, apex of heart, esophagus mucosa
CTNS-AS1	131		yes	male germ line stem cell (sensu Vertebrata) in testis, right uterine tube, right adrenal gland cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TAX1BP3	1,111
CTNS	850
CTNS-AS1	0

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TAX1BP3	O14907	9
CTNS	O60931	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 3 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
SLC-mediated transport of oligopeptides	1	5710.0×	5e-04	CTNS
RHO GTPases Activate Rhotekin and Rhophilins	1	634.4×	0.002	TAX1BP3
Miscellaneous transport and binding events	1	219.6×	0.005	CTNS

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of melanin biosynthetic process	1	2808.7×	0.006	CTNS
L-cystine transport	1	1404.3×	0.006	CTNS
regulation of TORC1 signaling	1	842.6×	0.006	CTNS
regulation of Cdc42 protein signal transduction	1	702.2×	0.006	TAX1BP3
melanin biosynthetic process	1	648.1×	0.006	CTNS
negative regulation of protein localization to cell surface	1	648.1×	0.006	TAX1BP3
grooming behavior	1	561.7×	0.006	CTNS
amino acid metabolic process	1	401.2×	0.007	CTNS
adult walking behavior	1	247.8×	0.010	CTNS
ATP metabolic process	1	234.1×	0.010	CTNS
long-term memory	1	210.7×	0.010	CTNS
lens development in camera-type eye	1	187.2×	0.010	CTNS
glutathione metabolic process	1	175.5×	0.010	CTNS
negative regulation of Wnt signaling pathway	1	172.0×	0.010	TAX1BP3
visual learning	1	153.2×	0.010	CTNS
positive regulation of TORC1 signaling	1	147.8×	0.010	CTNS
cognition	1	142.8×	0.010	CTNS
Rho protein signal transduction	1	123.9×	0.011	TAX1BP3
transmembrane transport	1	84.3×	0.015	CTNS
monoatomic ion transport	1	78.0×	0.015	CTNS
Wnt signaling pathway	1	49.9×	0.023	TAX1BP3
brain development	1	39.8×	0.027	CTNS
protein transport	1	21.9×	0.047	CTNS
negative regulation of cell population proliferation	1	21.1×	0.047	TAX1BP3

Therapeutics

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Cysteamine	Phase 3

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 3

Druggability breadth: 1 of 3 evidence-associated genes (33%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CTNS	0	0
TAX1BP3	0	0
CTNS-AS1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CTNS	2	Binding:2

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TAX1BP3	3.5.1.2	glutaminase

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	CTNS
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	TAX1BP3, CTNS-AS1

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CTNS	2	—
TAX1BP3	0	—
CTNS-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 38.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	23
PHASE3	5
PHASE1/PHASE2	5
PHASE2	2
PHASE4	1
PHASE1	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01614431	PHASE4	COMPLETED	N Acetyl Cysteine for Cystinosis Patients
NCT01000961	PHASE3	COMPLETED	Phase 3 Study of Cysteamine Bitartrate Delayed-release (RP103) Compared to Cystagon® in Patients With Cystinosis
NCT01197378	PHASE3	COMPLETED	Long-Term Safety Follow-up Study of Cysteamine Bitartrate Delayed-release Capsules (RP103)
NCT01733316	PHASE3	COMPLETED	Open-Label, Safety and Superior Effectiveness Study of Cysteamine Bitartrate Delayed-Release Capsules (RP103) in Cystinosis
NCT01744782	PHASE3	COMPLETED	Safety/Effectiveness Study of Cysteamine Bitartrate Delayed-release Capsules (RP103) in Cysteamine Treatment Naive Patients With Cystinosis
NCT04125927	PHASE3	COMPLETED	Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)
NCT05508009	PHASE1/PHASE2	RECRUITING	Early Trial of Allogeneic Hematopoietic Stem Cell Transplantation for Patients Who Will Receive a Kidney Transplant From the Same Donor
NCT05994534	PHASE1/PHASE2	RECRUITING	PK and PD Study of NPI-001 and Cysteamine Bitartrate
NCT00001213	PHASE2	COMPLETED	Cysteamine Eye Drops to Treat Corneal Crystals in Cystinosis
NCT00872729	PHASE1/PHASE2	COMPLETED	Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT03897361	PHASE1/PHASE2	COMPLETED	Stem Cell Gene Therapy for Cystinosis
NCT04069260	PHASE2	TERMINATED	A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
NCT00001736	PHASE1	COMPLETED	New Cysteamine Eye Drops Formulation to Treat Corneal Crystals in Cystinosis
NCT02533076	EARLY_PHASE1	COMPLETED	The Functional Consequences of the CTNS-deletion for the TRPV1-receptor in Cystinosis Patients
NCT00359684	Not specified	RECRUITING	Use of Cysteamine in the Treatment of Cystinosis
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05146830	Not specified	ENROLLING_BY_INVITATION	A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04
NCT05843851	Not specified	RECRUITING	Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria
NCT05901077	Not specified	RECRUITING	European Cystinosis Cohort
NCT05959668	Not specified	RECRUITING	Development of Health-related Quality of Life Instrument for Patients With Cystinosis
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT07319091	Not specified	NOT_YET_RECRUITING	Cystinosis and Mitochondrial Metabolism
NCT00004312	Not specified	COMPLETED	Establishment of a Database for Long-Term Monitoring of Patients With Nephropathic Cystinosis
NCT00004350	Not specified	COMPLETED	Evaluation of Fanconi Syndrome and Cystinosis
NCT00010426	Not specified	COMPLETED	Randomized Study of New Formulation Ophthalmic Cysteamine Hydrochloride for Corneal Cystine Accumulation in Patients With Cystinosis
NCT00071903	Not specified	COMPLETED	The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study
NCT00074516	Not specified	COMPLETED	Kidney Transplantation in Patients With Cystinosis
NCT00100204	Not specified	COMPLETED	Salivary Proteins in Disease and Health
NCT00822250	Not specified	COMPLETED	Clinical and Biological Study of Sub-pigmentation During Infantile Cystinosis
NCT01327807	Not specified	UNKNOWN	Cure Cystinosis International Registry
NCT01432561	Not specified	COMPLETED	Study in Healthy Adults to Determine the Effect That Food Has on the Absorption and Delivery of the Drug Cystagon™
NCT02012114	Not specified	COMPLETED	A Cohort of Patients With Cystinosis : Compliance to Cysteamine and Neurological Complications
NCT04071548	Not specified	COMPLETED	The Effect of Exercise on Muscle Dysfunction in Cystinosis
NCT05545774	Not specified	COMPLETED	Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06027385	Not specified	COMPLETED	Genetic Newborn Screening for Cystinosis and Spinal Muscular Atrophy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CYSTEAMINE	4	8
FLUDARABINE PHOSPHATE	4	1
ELX-02	2	1