Pantothenate kinase-associated neurodegeneration

Summary

Pantothenate kinase-associated neurodegeneration (MONDO:0009319) is a disease caused by PANK2 (GenCC Definitive), with 5 cohort genes and 8 clinical trials. Top therapeutic interventions include deferiprone and fosmetpantotenate.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: PANK2 (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 658
• Phenotypes (HPO): 60
• Clinical trials: 8

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.15	Europe	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0000505	Visual impairment	Very frequent (80-99%)
HP:0000546	Retinal degeneration	Very frequent (80-99%)
HP:0001257	Spasticity	Very frequent (80-99%)
HP:0001266	Choreoathetosis	Very frequent (80-99%)
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0001332	Dystonia	Very frequent (80-99%)
HP:0002071	Abnormality of extrapyramidal motor function	Very frequent (80-99%)
HP:0002505	Loss of ambulation	Very frequent (80-99%)
HP:0000496	Abnormality of eye movement	Frequent (30-79%)
HP:0000510	Rod-cone dystrophy	Frequent (30-79%)
HP:0000580	Pigmentary retinopathy	Frequent (30-79%)
HP:0000662	Nyctalopia	Frequent (30-79%)
HP:0000708	Atypical behavior	Frequent (30-79%)
HP:0000938	Osteopenia	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001268	Mental deterioration	Frequent (30-79%)
HP:0001300	Parkinsonism	Frequent (30-79%)
HP:0001927	Acanthocytosis	Frequent (30-79%)
HP:0002063	Rigidity	Frequent (30-79%)
HP:0002451	Limb dystonia	Frequent (30-79%)
HP:0002454	Eye of the tiger anomaly of globus pallidus	Frequent (30-79%)
HP:0002483	Bulbar signs	Frequent (30-79%)
HP:0007994	Peripheral visual field loss	Frequent (30-79%)
HP:0008181	Abetalipoproteinemia	Frequent (30-79%)
HP:0009763	Limb pain	Frequent (30-79%)
HP:0012045	Retinal flecks	Frequent (30-79%)
HP:0012179	Craniofacial dystonia	Frequent (30-79%)
HP:0012678	Iron accumulation in substantia nigra	Frequent (30-79%)
HP:0031959	Leg dystonia	Frequent (30-79%)
HP:0000712	Emotional lability	Occasional (5-29%)
HP:0000716	Depression	Occasional (5-29%)
HP:0000722	Compulsive behaviors	Occasional (5-29%)
HP:0000726	Dementia	Occasional (5-29%)
HP:0001123	Visual field defect	Occasional (5-29%)
HP:0001152	Saccadic smooth pursuit	Occasional (5-29%)
HP:0001249	Intellectual disability	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001270	Motor delay	Occasional (5-29%)
HP:0001347	Hyperreflexia	Occasional (5-29%)
HP:0001350	Slurred speech	Occasional (5-29%)
HP:0002167	Abnormality of speech or vocalization	Occasional (5-29%)
HP:0003084	Fractures of the long bones	Occasional (5-29%)
HP:0007018	Attention deficit hyperactivity disorder	Occasional (5-29%)
HP:0007132	Pallidal degeneration	Occasional (5-29%)
HP:0009088	Speech articulation difficulties	Occasional (5-29%)
HP:0011504	Bull’s eye maculopathy	Occasional (5-29%)
HP:0011916	Toe extensor amyotrophy	Occasional (5-29%)
HP:0025402	Square-wave jerks	Occasional (5-29%)
HP:0030051	Tip-toe gait	Occasional (5-29%)
HP:0031814	Palilalia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pantothenate kinase-associated neurodegeneration
Mondo ID	MONDO:0009319
MeSH	D006211
OMIM	234200
Orphanet	157850
DOID	DOID:3981
ICD-10-CM	G23.0
NCIT	C84988
SNOMED CT	2992000
UMLS	C0018523
MedGen	6708
GARD	0006564
NORD	1550
Is cancer (heuristic)	no

Also known as: brain iron accumulation type I syndrome · Hallervorden-Spatz disease · Hallervorden-Spatz syndrome · NBIA1 · neuroaxonal dystrophy, late infantile · neurodegeneration with brain iron accumulation 1 · neurodegeneration with brain iron accumulation type 1 · pantothenate kinase-associated neurodegeneration · pigmentary pallidal degeneration · PKAN

Data availability: 658 ClinVar variants · 3 GenCC gene-disease records · 7 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › mineral metabolism disease › iron metabolism disease › neurodegeneration with brain iron accumulation › pantothenate kinase-associated neurodegeneration

Related subtypes (13): Woodhouse-Sakati syndrome, neurodegeneration with brain iron accumulation 5, aceruloplasminemia, neuroferritinopathy, Kufor-Rakeb syndrome, neurodegeneration with brain iron accumulation 4, neurodegeneration with brain iron accumulation 6, PLA2G6-associated neurodegeneration, fatty acid hydroxylase-associated neurodegeneration, early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, neurodegeneration with brain iron accumulation 7, neurodegeneration with brain iron accumulation 8, neurodegeneration with brain iron accumulation 9

Subtypes (2): classic pantothenate kinase-associated neurodegeneration, atypical pantothenate kinase-associated neurodegeneration

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

600 retrieved; paginated sample, class counts are floors:

287 likely benign, 146 uncertain significance, 71 pathogenic, 31 likely pathogenic, 29 conflicting classifications of pathogenicity, 18 pathogenic/likely pathogenic, 12 benign/likely benign, 6 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
526631	NC_000020.11:g.(?3889081)(3912654_?)del	LOC125384566	Pathogenic	criteria provided, single submitter
1878518	NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)	LOC130065345	Pathogenic	criteria provided, multiple submitters, no conflicts
2634258	NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)	LOC130065345	Pathogenic	criteria provided, multiple submitters, no conflicts
2736936	NM_001386393.1(PANK2):c.185_197del (p.Val62fs)	LOC130065345	Pathogenic	criteria provided, single submitter
2784668	NM_001386393.1(PANK2):c.225del (p.Arg76fs)	LOC130065345	Pathogenic	criteria provided, single submitter
2844377	NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)	LOC130065345	Pathogenic	criteria provided, single submitter
284671	NM_001386393.1(PANK2):c.-21G>T	LOC130065345	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2852428	NM_001386393.1(PANK2):c.262del (p.Arg88fs)	LOC130065345	Pathogenic	criteria provided, single submitter
3384757	NM_001386393.1(PANK2):c.84_100dup (p.Val34fs)	LOC130065345	Pathogenic	criteria provided, single submitter
4549	NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)	LOC130065345	Pathogenic	criteria provided, multiple submitters, no conflicts
4561	NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)	LOC130065345	Pathogenic	criteria provided, single submitter
3248221	NC_000020.10:g.(?3869748)(3903941_?)del	MIR103A2	Pathogenic	criteria provided, single submitter
4556	NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	MIR103A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1030294	NM_001386393.1(PANK2):c.905+1G>C	PANK2	Pathogenic	criteria provided, multiple submitters, no conflicts
1068023	NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)	PANK2	Pathogenic	criteria provided, single submitter
1321409	NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)	PANK2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1323413	NM_001386393.1(PANK2):c.682G>T (p.Glu228Ter)	PANK2	Pathogenic	criteria provided, multiple submitters, no conflicts
1363985	NM_001386393.1(PANK2):c.1086del (p.Phe362fs)	PANK2	Pathogenic	criteria provided, single submitter
1416528	NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)	PANK2	Pathogenic	criteria provided, single submitter
1419098	NM_001386393.1(PANK2):c.906-99_929del	PANK2	Pathogenic	criteria provided, single submitter
1439787	NM_001386393.1(PANK2):c.317dup (p.Asp107fs)	PANK2	Pathogenic	criteria provided, single submitter
1452444	NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs)	PANK2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1458749	NM_001386393.1(PANK2):c.652-1G>C	PANK2	Pathogenic	criteria provided, single submitter
1696025	NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)	PANK2	Pathogenic	criteria provided, multiple submitters, no conflicts
1933981	NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)	PANK2	Pathogenic	criteria provided, single submitter
2138325	NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)	PANK2	Pathogenic	criteria provided, single submitter
2138326	NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)	PANK2	Pathogenic	criteria provided, single submitter
2427434	NC_000020.10:g.(?3888553)(3888945_?)del	PANK2	Pathogenic	criteria provided, single submitter
2427435	NC_000020.10:g.(?3869748)(3891497_?)del	PANK2	Pathogenic	criteria provided, single submitter
2427436	NC_000020.10:g.(?3891204)(3893301_?)del	PANK2	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · 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
PANK2	Definitive	Autosomal recessive	pantothenate kinase-associated neurodegeneration	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PANK2	Orphanet:216866	Classic pantothenate kinase-associated neurodegeneration
PANK2	Orphanet:216873	Atypical pantothenate kinase-associated neurodegeneration

Cohort genes → proteins

5 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PANK2	HGNC:15894	ENSG00000125779	Q9BZ23	Pantothenate kinase 2, mitochondrial	gencc,clinvar
AP5S1	HGNC:15875	ENSG00000125843	Q9NUS5	AP-5 complex subunit sigma-1	clinvar
MAVS	HGNC:29233	ENSG00000088888	Q7Z434	Mitochondrial antiviral-signaling protein	clinvar
MIR103A2	HGNC:31491	ENSG00000199024		microRNA 103a-2	clinvar
PANK2-AS1	HGNC:40732	ENSG00000229539		PANK2 antisense RNA 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PANK2	Pantothenate kinase 2, mitochondrial	Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4’-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis.
AP5S1	AP-5 complex subunit sigma-1	As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport.
MAVS	Mitochondrial antiviral-signaling protein	Adapter required for innate immune defense against viruses.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 4 · Druggable fraction: 0.2

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
Enzyme (other)	1	2.4×	0.353
Other/Unknown	4	1.4×	0.353

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PANK2	Enzyme (other)	yes	2.7.1.33	Type_II_PanK, ATPase_NBD
AP5S1	Other/Unknown	no		AP-5_subunit_s1
MAVS	Other/Unknown	no		DEATH-like_dom_sf, CARD_dom, CARD_IPS1
MIR103A2	Other/Unknown	no
PANK2-AS1	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

4 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)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
primordial germ cell in gonad	3
monocyte	2
buccal mucosa cell	2
endothelial cell	1
stromal cell of endometrium	1
biceps brachii	1
skeletal muscle tissue of biceps brachii	1
colonic mucosa	1
heart right ventricle	1
skeletal muscle tissue of rectus abdominis	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PANK2	282	ubiquitous	marker	endothelial cell, stromal cell of endometrium, monocyte
AP5S1	226	ubiquitous	marker	primordial germ cell in gonad, biceps brachii, skeletal muscle tissue of biceps brachii
MAVS	277	ubiquitous	marker	skeletal muscle tissue of rectus abdominis, heart right ventricle, colonic mucosa
MIR103A2	149		marker	primordial germ cell in gonad, buccal mucosa cell, monocyte
PANK2-AS1	173		yes	buccal mucosa cell, male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MAVS	3,769
PANK2	1,312
AP5S1	527
MIR103A2	0
PANK2-AS1	0

Structural data

PDB: 3 · AlphaFold-only: 0 · No structure: 2

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MAVS	Q7Z434	11
AP5S1	Q9NUS5	2
PANK2	Q9BZ23	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 31. Enrichment computed across 5 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
Coenzyme A biosynthesis	1	713.8×	0.022	PANK2
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10	1	439.2×	0.022	MAVS
TRAF3-dependent IRF activation pathway	1	380.7×	0.022	MAVS
TRAF6 mediated NF-kB activation	1	228.4×	0.022	MAVS
TRAF6 mediated IRF7 activation	1	190.3×	0.022	MAVS
Dengue virus activates/modulates innate and adaptive immune responses	1	167.9×	0.022	MAVS
Negative regulators of DDX58/IFIH1 signaling	1	163.1×	0.022	MAVS
Evasion by RSV of host interferon responses	1	163.1×	0.022	MAVS
Ovarian tumor domain proteases	1	139.3×	0.022	MAVS
SARS-CoV-1 activates/modulates innate immune responses	1	135.9×	0.022	MAVS
DDX58/IFIH1-mediated induction of interferon-alpha/beta	1	126.9×	0.022	MAVS
Antimicrobial mechanism of IFN-stimulated genes	1	98.5×	0.024	MAVS
Respiratory Syncytial Virus Infection Pathway	1	98.5×	0.024	MAVS
SARS-CoV-1-host interactions	1	87.8×	0.025	MAVS
RSV-host interactions	1	78.2×	0.026	MAVS
SARS-CoV-1 Infection	1	71.4×	0.026	MAVS
PKR-mediated signaling	1	70.5×	0.026	MAVS
Deubiquitination	1	62.1×	0.026	MAVS
Interferon Signaling	1	60.1×	0.026	MAVS
SARS-CoV-2-host interactions	1	59.5×	0.026	MAVS
SARS-CoV-2 activates/modulates innate and adaptive immune responses	1	44.6×	0.033	MAVS
SARS-CoV-2 Infection	1	40.2×	0.035	MAVS
SARS-CoV Infections	1	27.7×	0.048	MAVS
Cytokine Signaling in Immune system	1	20.4×	0.063	MAVS
Viral Infection Pathways	1	15.4×	0.079	MAVS
Innate Immune System	1	12.8×	0.091	MAVS
Infectious disease	1	12.4×	0.091	MAVS
Post-translational protein modification	1	9.6×	0.112	MAVS
Disease	1	6.5×	0.153	MAVS
Immune System	1	6.5×	0.153	MAVS

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of IP-10 production	1	5617.3×	0.008	MAVS
regulation of peroxisome organization	1	1872.4×	0.008	MAVS
obsolete regulation of bile acid metabolic process	1	1872.4×	0.008	PANK2
positive regulation of myeloid dendritic cell cytokine production	1	936.2×	0.008	MAVS
positive regulation of chemokine (C-C motif) ligand 5 production	1	936.2×	0.008	MAVS
positive regulation of response to cytokine stimulus	1	802.5×	0.008	MAVS
pantothenate metabolic process	1	702.2×	0.008	PANK2
regulation of triglyceride metabolic process	1	702.2×	0.008	PANK2
regulation of fatty acid metabolic process	1	624.1×	0.008	PANK2
coenzyme A biosynthetic process	1	510.7×	0.009	PANK2
protein localization to mitochondrion	1	432.1×	0.009	MAVS
cellular response to exogenous dsRNA	1	351.1×	0.011	MAVS
cytoplasmic pattern recognition receptor signaling pathway	1	295.6×	0.011	MAVS
positive regulation of type I interferon-mediated signaling pathway	1	280.9×	0.011	MAVS
positive regulation of interferon-alpha production	1	216.1×	0.013	MAVS
protein tetramerization	1	208.1×	0.013	MAVS
positive regulation of NLRP3 inflammasome complex assembly	1	193.7×	0.013	MAVS
regulation of mitochondrial membrane potential	1	181.2×	0.013	PANK2
positive regulation of defense response to virus by host	1	175.5×	0.013	MAVS
cellular response to interferon-beta	1	175.5×	0.013	MAVS
activation of innate immune response	1	160.5×	0.013	MAVS
positive regulation of type I interferon production	1	140.4×	0.014	MAVS
positive regulation of protein import into nucleus	1	140.4×	0.014	MAVS
positive regulation of interferon-beta production	1	130.6×	0.014	MAVS
negative regulation of viral genome replication	1	124.8×	0.014	MAVS
type I interferon-mediated signaling pathway	1	114.6×	0.015	MAVS
aerobic respiration	1	82.6×	0.019	PANK2
endosomal transport	1	81.4×	0.019	AP5S1
positive regulation of interleukin-8 production	1	81.4×	0.019	MAVS
antiviral innate immune response	1	75.9×	0.020	MAVS

Therapeutics

Drugs indicated for this disease

0 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Deferiprone	Phase 3 (in late-stage trials)
Fosmetpantotenate	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 5

Druggability breadth: 2 of 5 evidence-associated genes (40%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PANK2	0	0
AP5S1	0	0
MAVS	0	0
MIR103A2	0	0
PANK2-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
MAVS	3	Binding:3
PANK2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PANK2	2.7.1.33	pantothenate kinase

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; 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	PANK2
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	4	AP5S1, MAVS, MIR103A2, PANK2-AS1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
PANK2	1	—
AP5S1	0	—
MAVS	3	—
MIR103A2	0	—
PANK2-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5
PHASE3	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01741532	PHASE3	COMPLETED	Efficacy and Safety Study of Deferiprone in Patients With Pantothenate Kinase-associated Neurodegeneration (PKAN)
NCT02174848	PHASE3	COMPLETED	Long-term Deferiprone Treatment in Patients With Pantothenate Kinase-Associated Neurodegeneration
NCT03041116	PHASE3	TERMINATED	Efficacy and Safety Study of Fosmetpantotenate (RE-024) in PKAN Participants
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT05522374	Not specified	RECRUITING	TIRCON International NBIA Registry
NCT01838018	Not specified	COMPLETED	Brain Perfusion in Pantothenate Kinase-associated Neurodegeneration (PKAN)
NCT02635841	Not specified	NO_LONGER_AVAILABLE	Compassionate Use of Deferiprone in Patients With PKAN
NCT04182763	Not specified	COMPLETED	CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DEFERIPRONE	4	3
FOSMETPANTOTENATE	3	1