Aceruloplasminemia

Summary

Aceruloplasminemia (MONDO:0011426) is a disease caused by CP (GenCC Definitive), with 2 cohort genes and 43 clinical trials. Top therapeutic interventions include riluzole and deferiprone.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: CP (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 547
• Phenotypes (HPO): 41
• Clinical trials: 43

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	<1 / 1 000 000	0.09	Worldwide	Validated
Point prevalence	1-9 / 1 000 000	0.1	Japan	Validated

Signs & symptoms

Clinical features (HPO)

41 HPO clinical features (Orphanet curated; top 41 by frequency):

HPO ID	Term	Frequency
HP:0000707	Abnormality of the nervous system	Very frequent (80-99%)
HP:0003281	Increased circulating ferritin concentration	Very frequent (80-99%)
HP:0004840	Hypochromic microcytic anemia	Very frequent (80-99%)
HP:0005505	Refractory anemia	Very frequent (80-99%)
HP:0012379	Abnormal enzyme/coenzyme activity	Very frequent (80-99%)
HP:0025498	Aceruloplasminemia	Very frequent (80-99%)
HP:0000546	Retinal degeneration	Frequent (30-79%)
HP:0000608	Macular degeneration	Frequent (30-79%)
HP:0000819	Diabetes mellitus	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001332	Dystonia	Frequent (30-79%)
HP:0002066	Gait ataxia	Frequent (30-79%)
HP:0002070	Limb ataxia	Frequent (30-79%)
HP:0002072	Chorea	Frequent (30-79%)
HP:0004305	Involuntary movements	Frequent (30-79%)
HP:0007703	Abnormality of retinal pigmentation	Frequent (30-79%)
HP:0010837	Decreased circulating ceruloplasmin concentration	Frequent (30-79%)
HP:0011967	Decreased circulating copper concentration	Frequent (30-79%)
HP:0012465	Elevated hepatic iron concentration	Frequent (30-79%)
HP:0040303	Decreased serum iron	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0000273	Facial grimacing	Occasional (5-29%)
HP:0000473	Torticollis	Occasional (5-29%)
HP:0000639	Nystagmus	Occasional (5-29%)
HP:0000643	Blepharospasm	Occasional (5-29%)
HP:0000741	Apathy	Occasional (5-29%)
HP:0001300	Parkinsonism	Occasional (5-29%)
HP:0001337	Tremor	Occasional (5-29%)
HP:0001635	Congestive heart failure	Occasional (5-29%)
HP:0002063	Rigidity	Occasional (5-29%)
HP:0002304	Akinesia	Occasional (5-29%)
HP:0002354	Memory impairment	Occasional (5-29%)
HP:0010994	Abnormal corpus striatum morphology	Occasional (5-29%)
HP:0012090	Abnormal pancreas morphology	Occasional (5-29%)
HP:0012179	Craniofacial dystonia	Occasional (5-29%)
HP:0012675	Iron accumulation in brain	Occasional (5-29%)
HP:0012696	Abnormal thalamic MRI signal intensity	Occasional (5-29%)
HP:0100321	Abnormality of the dentate nucleus	Occasional (5-29%)
HP:0001394	Cirrhosis	Excluded (0%)
HP:0001395	Hepatic fibrosis	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	aceruloplasminemia
Mondo ID	MONDO:0011426
OMIM	604290
Orphanet	48818
DOID	DOID:0050711
SNOMED CT	124224004
UMLS	C0878682
MedGen	168057
GARD	0009499
NORD	707
Is cancer (heuristic)	no

Also known as: aceruloplasminemia · cerebellar ataxia · familial apoceruloplasmin deficiency · hereditary ceruloplasmin deficiency · hypoceruloplasminemia, hereditary · systemic hemosiderosis due to aceruloplasminemia

Data availability: 547 ClinVar variants · 4 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › anemia › deficiency anemia › hereditary anemia › aceruloplasminemia

Related subtypes (13): microcytic anemia with liver iron overload, IRIDA syndrome, atransferrinemia, hereditary folate malabsorption, formiminoglutamic aciduria, hereditary intrinsic factor deficiency, Imerslund-Grasbeck syndrome, transcobalamin II deficiency, constitutional megaloblastic anemia with severe neurologic disease, severe congenital hypochromic anemia with ringed sideroblasts, methylmalonic aciduria and homocystinuria, homocystinuria without methylmalonic aciduria, vitamin B12- and folate-independent constitutional megaloblastic anemia

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

547 retrieved; paginated sample, class counts are floors:

217 uncertain significance, 159 likely benign, 70 pathogenic, 38 conflicting classifications of pathogenicity, 22 benign, 19 benign/likely benign, 15 likely pathogenic, 5 pathogenic/likely pathogenic, 2 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
3246874	NC_000003.11:g.(?148447967)(149678891_?)del	AGTR1	Pathogenic	criteria provided, single submitter
1070975	NM_000096.4(CP):c.1317_1318del (p.Gly440fs)	CP	Pathogenic	criteria provided, single submitter
1071143	NM_000096.4(CP):c.376_379del (p.Tyr126fs)	CP	Pathogenic	criteria provided, single submitter
1322157	NM_000096.4(CP):c.2879-2A>G	CP	Pathogenic	criteria provided, single submitter
1379970	NM_000096.4(CP):c.2322C>A (p.Tyr774Ter)	CP	Pathogenic	criteria provided, single submitter
1451712	NM_000096.4(CP):c.1731del (p.Glu577fs)	CP	Pathogenic	criteria provided, single submitter
1453045	NM_000096.4(CP):c.1149G>A (p.Trp383Ter)	CP	Pathogenic	criteria provided, single submitter
17559	NM_000096.4(CP):c.3019-1G>A	CP	Pathogenic	criteria provided, single submitter
17560	NM_000096.4(CP):c.2389del (p.Glu797fs)	CP	Pathogenic	no assertion criteria provided
17561	NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)	CP	Pathogenic	no assertion criteria provided
17562	NM_000096.4(CP):c.2630G>A (p.Trp877Ter)	CP	Pathogenic	criteria provided, single submitter
17563	NM_000096.4(CP):c.606dup (p.Asp203fs)	CP	Pathogenic	no assertion criteria provided
1983298	NM_000096.4(CP):c.1843C>T (p.Gln615Ter)	CP	Pathogenic	criteria provided, single submitter
2203453	NM_000096.4(CP):c.1306C>T (p.Arg436Ter)	CP	Pathogenic	criteria provided, single submitter
2630109	NM_000096.4(CP):c.1991_1992del (p.Thr664fs)	CP	Pathogenic	criteria provided, multiple submitters, no conflicts
2862930	NM_000096.4(CP):c.1106del (p.Lys369fs)	CP	Pathogenic	criteria provided, single submitter
2909769	NM_000096.4(CP):c.2149C>T (p.Gln717Ter)	CP	Pathogenic	criteria provided, single submitter
2918511	NM_000096.4(CP):c.2520_2523del (p.Thr841fs)	CP	Pathogenic	criteria provided, single submitter
3020469	NM_000096.4(CP):c.2712del (p.Tyr904_Leu905insTer)	CP	Pathogenic	criteria provided, single submitter
3061972	NM_000096.4(CP):c.1864+5G>A	CP	Pathogenic	no assertion criteria provided
3246875	NC_000003.11:g.(?148939414)(148939579_?)del	CP	Pathogenic	criteria provided, single submitter
3620110	NM_000096.4(CP):c.313del (p.Val105fs)	CP	Pathogenic	criteria provided, single submitter
3629557	NM_000096.4(CP):c.2122G>A (p.Gly708Ser)	CP	Pathogenic	criteria provided, multiple submitters, no conflicts
3637928	NM_000096.4(CP):c.2670C>A (p.Tyr890Ter)	CP	Pathogenic	criteria provided, single submitter
3674142	NM_000096.4(CP):c.1492C>T (p.Gln498Ter)	CP	Pathogenic	criteria provided, single submitter
3704278	NM_000096.4(CP):c.631A>T (p.Lys211Ter)	CP	Pathogenic	criteria provided, single submitter
381716	NM_000096.4(CP):c.1948G>A (p.Gly650Arg)	CP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3897661	NM_000096.4(CP):c.628G>T (p.Glu210Ter)	CP	Pathogenic	criteria provided, single submitter
42051	NM_000096.4(CP):c.650T>C (p.Phe217Ser)	CP	Pathogenic	no assertion criteria provided
42052	NM_000096.4(CP):c.1874G>A (p.Gly625Glu)	CP	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 2 · 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
CP	Definitive	Autosomal recessive	aceruloplasminemia	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CP	Orphanet:48818	Aceruloplasminemia
AGTR1	Orphanet:97369	Renal tubular dysgenesis of genetic origin

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CP	HGNC:2295	ENSG00000047457	P00450	Ceruloplasmin	gencc,clinvar
AGTR1	HGNC:336	ENSG00000144891	P30556	Type-1 angiotensin II receptor	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CP	Ceruloplasmin	Multifunctional blue, copper-binding (6-7 atoms per molecule) glycoprotein.
AGTR1	Type-1 angiotensin II receptor	Receptor for angiotensin II, a vasoconstricting peptide, which acts as a key regulator of blood pressure and sodium retention by the kidney.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
GPCR	1	12.0×	0.160
Enzyme (other)	1	6.0×	0.160

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CP	Enzyme (other)	yes	1.16.3.1	Cu-oxidase_2nd, Cu_oxidase_Cu_BS, Cupredoxin
AGTR1	GPCR	yes		ATII_AT1_rcpt, ATII_rcpt, GPCR_Rhodpsn

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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
liver	1
palpebral conjunctiva	1
right lobe of liver	1
placenta	1
skin of hip	1
subcutaneous adipose tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CP	234	broad	marker	right lobe of liver, liver, palpebral conjunctiva
AGTR1	224		marker	skin of hip, placenta, subcutaneous adipose tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CP	2,661
AGTR1	2,651

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
AGTR1	P30556	11
CP	P00450	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 2 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
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)	1	2855.0×	0.003	CP
Defective CP causes aceruloplasminemia (ACERULOP)	1	2855.0×	0.003	CP
Metal ion SLC transporters	1	300.5×	0.019	CP
Iron uptake and transport	1	173.0×	0.025	CP
Cargo recognition for clathrin-mediated endocytosis	1	52.4×	0.046	AGTR1
Post-translational protein phosphorylation	1	50.1×	0.046	CP
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)	1	43.3×	0.046	CP
Clathrin-mediated endocytosis	1	42.6×	0.046	AGTR1
Class A/1 (Rhodopsin-like receptors)	1	37.1×	0.046	AGTR1
Peptide ligand-binding receptors	1	37.1×	0.046	AGTR1
GPCR ligand binding	1	32.1×	0.048	AGTR1
G alpha (q) signalling events	1	28.7×	0.049	AGTR1
GPCR downstream signalling	1	21.7×	0.060	AGTR1
Signaling by GPCR	1	20.0×	0.060	AGTR1
Membrane Trafficking	1	18.5×	0.060	AGTR1
Vesicle-mediated transport	1	17.4×	0.060	AGTR1
Signal Transduction	1	5.1×	0.187	AGTR1

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
renin-angiotensin regulation of aldosterone production	1	2808.7×	0.003	AGTR1
maintenance of blood vessel diameter homeostasis by renin-angiotensin	1	2808.7×	0.003	AGTR1
phospholipase C-activating angiotensin-activated signaling pathway	1	2808.7×	0.003	AGTR1
regulation of renal sodium excretion	1	2106.5×	0.003	AGTR1
regulation of systemic arterial blood pressure by renin-angiotensin	1	1685.2×	0.003	AGTR1
positive regulation of cholesterol metabolic process	1	1053.2×	0.004	AGTR1
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	1	842.6×	0.005	AGTR1
angiotensin-activated signaling pathway	1	766.0×	0.005	AGTR1
low-density lipoprotein particle remodeling	1	526.6×	0.006	AGTR1
intracellular copper ion homeostasis	1	468.1×	0.006	CP
positive regulation of macrophage derived foam cell differentiation	1	421.3×	0.006	AGTR1
regulation of vasoconstriction	1	401.2×	0.006	AGTR1
blood vessel diameter maintenance	1	312.1×	0.007	AGTR1
positive regulation of reactive oxygen species metabolic process	1	255.3×	0.008	AGTR1
symbiont entry into host cell	1	200.6×	0.009	AGTR1
Rho protein signal transduction	1	123.9×	0.013	AGTR1
intracellular iron ion homeostasis	1	122.1×	0.013	CP
regulation of cell growth	1	110.9×	0.014	AGTR1
cell chemotaxis	1	92.6×	0.015	AGTR1
calcium-mediated signaling	1	91.6×	0.015	AGTR1
regulation of inflammatory response	1	84.3×	0.016	AGTR1
positive regulation of inflammatory response	1	72.6×	0.017	AGTR1
kidney development	1	70.2×	0.017	AGTR1
phospholipase C-activating G protein-coupled receptor signaling pathway	1	65.8×	0.018	AGTR1
positive regulation of cytosolic calcium ion concentration	1	58.5×	0.019	AGTR1
regulation of cell population proliferation	1	57.7×	0.019	AGTR1
inflammatory response	1	18.9×	0.054	AGTR1
G protein-coupled receptor signaling pathway	1	18.1×	0.054	AGTR1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
AGTR1	IRBESARTAN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
AGTR1	88	4
CP	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IRBESARTAN	4	AGTR1
LOSARTAN	4	AGTR1
SARALASIN	4	AGTR1
LOSARTAN POTASSIUM	4	AGTR1
CANDESARTAN CILEXETIL	4	AGTR1
TELMISARTAN	4	AGTR1
CLOTRIMAZOLE	4	AGTR1
SIMVASTATIN	4	AGTR1
VALSARTAN	4	AGTR1
RIMONABANT	4	AGTR1
ARIPIPRAZOLE	4	AGTR1
PONATINIB	4	AGTR1
OXYMETHOLONE	4	AGTR1
OLMESARTAN MEDOXOMIL	4	AGTR1
NORGESTIMATE	4	AGTR1
ROCURONIUM	4	AGTR1
PYRVINIUM	4	AGTR1
INDOCYANINE GREEN ACID FORM	4	AGTR1
BALSALAZIDE	4	AGTR1
ROSIGLITAZONE	4	AGTR1
SULCONAZOLE	4	AGTR1
MILTEFOSINE	4	AGTR1
BUTOCONAZOLE	4	AGTR1
SORAFENIB	4	AGTR1
NITAZOXANIDE	4	AGTR1
PIMOZIDE	4	AGTR1
FELODIPINE	4	AGTR1
DESOGESTREL	4	AGTR1
ALFACALCIDOL	4	AGTR1
RITONAVIR	4	AGTR1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
AGTR1	421	Binding:315, Functional:105, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
CP	1.16.3.1	ferroxidase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
AGTR1	421

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

30 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.

Compound	Max phase	Cohort target (bioactivity)
IRBESARTAN	4	AGTR1
LOSARTAN	4	AGTR1
SARALASIN	4	AGTR1
LOSARTAN POTASSIUM	4	AGTR1
CANDESARTAN CILEXETIL	4	AGTR1
TELMISARTAN	4	AGTR1
CLOTRIMAZOLE	4	AGTR1
SIMVASTATIN	4	AGTR1
VALSARTAN	4	AGTR1
RIMONABANT	4	AGTR1
ARIPIPRAZOLE	4	AGTR1
PONATINIB	4	AGTR1
OXYMETHOLONE	4	AGTR1
OLMESARTAN MEDOXOMIL	4	AGTR1
NORGESTIMATE	4	AGTR1
ROCURONIUM	4	AGTR1
PYRVINIUM	4	AGTR1
INDOCYANINE GREEN ACID FORM	4	AGTR1
BALSALAZIDE	4	AGTR1
ROSIGLITAZONE	4	AGTR1
SULCONAZOLE	4	AGTR1
MILTEFOSINE	4	AGTR1
BUTOCONAZOLE	4	AGTR1
SORAFENIB	4	AGTR1
NITAZOXANIDE	4	AGTR1
PIMOZIDE	4	AGTR1
FELODIPINE	4	AGTR1
DESOGESTREL	4	AGTR1
ALFACALCIDOL	4	AGTR1
RITONAVIR	4	AGTR1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	AGTR1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	CP
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 43.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	36
PHASE2	2
PHASE1/PHASE2	2
PHASE2/PHASE3	1
EARLY_PHASE1	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01104649	PHASE2/PHASE3	COMPLETED	Efficacy of Riluzole in Hereditary Cerebellar Ataxia
NCT00202397	PHASE2	COMPLETED	Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT01649687	PHASE1/PHASE2	COMPLETED	Treatment of Cerebellar Ataxia With Mesenchymal Stem Cells
NCT01958177	PHASE1/PHASE2	UNKNOWN	Clinical Study to Evaluate the Safety and Efficacy BMMNC in Cerebellar Ataxia
NCT02540655	PHASE2	COMPLETED	Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT05157802	PHASE1	ACTIVE_NOT_RECRUITING	Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia
NCT04184453	EARLY_PHASE1	UNKNOWN	Clinical Curative Effect Evaluation Study of Treatment of Oral Deferiprone Tablets in Aceruloplasminaemia Patients
NCT03879018	Not specified	RECRUITING	Retraining Reaching in Cerebellar Ataxia
NCT03972202	Not specified	ACTIVE_NOT_RECRUITING	The Role of Cerebellum in Speech
NCT04010214	Not specified	RECRUITING	A Registered Cohort Study on Cerebellar Ataxia in the Organization in South-East China for Cerebellar Ataxia Research (OSCCAR)
NCT04529252	Not specified	ACTIVE_NOT_RECRUITING	Investigating the Genetic and Phenotypic Presentation of Ataxia and Nucleotide Repeat Diseases
NCT05351255	Not specified	ACTIVE_NOT_RECRUITING	Motor Learning After Cerebellar Damage: The Role of the Primary Motor Cortex
NCT05443906	Not specified	RECRUITING	Home Exercise for Individuals with Neurodegenerative Disease
NCT05522374	Not specified	RECRUITING	TIRCON International NBIA Registry
NCT06573866	Not specified	RECRUITING	Enhancement of Quality of Work And Life
NCT06817707	Not specified	RECRUITING	Evaluation of Urinary Dysfunction in CANVAS Patients
NCT07211490	Not specified	NOT_YET_RECRUITING	rTMS for Cerebellar Ataxia in Children
NCT00006492	Not specified	COMPLETED	Gluten-Free Diet in Patients With Gluten Sensitivity and Cerebellar Ataxia
NCT01307176	Not specified	COMPLETED	Exercise Training Program for Cerebellar Ataxia
NCT02887703	Not specified	COMPLETED	Augmenting Balance in Individuals With Cerebellar Ataxias
NCT02900508	Not specified	COMPLETED	Virtual Reality-based Training in Cerebellar Ataxia
NCT02903290	Not specified	COMPLETED	Longitudinal Monitoring of Energy Expenditure, Dynamic Stability and Fatigue During Gait in Patients With Cerebellar Ataxia Gene
NCT03120013	Not specified	COMPLETED	Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia
NCT03213106	Not specified	UNKNOWN	Cerebellar Non-invasive Stimulation in Ataxias
NCT03269201	Not specified	UNKNOWN	Brain Network Activation in Patients With Movement Disorders
NCT03341416	Not specified	UNKNOWN	Effects of Deep Brain Stimulation of the Dentate Nucleus on Cerebellar Ataxia
NCT04039048	Not specified	UNKNOWN	Effect of ctDCS During Balance Training on Cerebellar Ataxia
NCT04054726	Not specified	UNKNOWN	A Study on Cerebello-Spinal tPCS in Ataxia
NCT04648501	Not specified	COMPLETED	Dual Task Training for Cerebellar Ataxia
NCT04703595	Not specified	COMPLETED	Chronic Cough and CANVAS (Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome)
NCT04750850	Not specified	COMPLETED	Core Stability Exercises and Hereditary Ataxia
NCT04790981	Not specified	COMPLETED	Effect of Motor Imagery Training on Ataxic Children After Medulloblastoma Resection
NCT05002218	Not specified	COMPLETED	Training in Ataxia - Individuals With Degenerative Cerebellar Diseases
NCT05024240	Not specified	UNKNOWN	Interaction of the Cognitive and Sensory-cognitive Tasks With Postural Stability in Individuals With Stability Disorders
NCT05095870	Not specified	COMPLETED	Evaluation of the Peripheral Nerve Ultrasound as a Diagnostic Tool in CANVAS Neuropathies
NCT05132647	Not specified	UNKNOWN	Circular Timed Up and Go (cTUG) for Ataxia: Development and Validation
NCT05278091	Not specified	COMPLETED	Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies
NCT05436262	Not specified	COMPLETED	Using Real-time fMRI Neurofeedback and Motor Imagery to Enhance Motor Timing and Precision in Cerebellar Ataxia
NCT05625620	Not specified	UNKNOWN	Cerebellar-spinal Transcranial Pulsed Current Stimulation (tPCS) for Treatment of Neurodegenerative Ataxia
NCT05992207	Not specified	COMPLETED	Utilization of Motor Imagery Training for Improvement of Balance of Ataxic Children After Medulloblastoma Resection

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
RILUZOLE	4	2
DEFERIPRONE	4	1
CHEMBL46909	0	1