USP50

Summary

USP50 (ubiquitin specific peptidase 50, HGNC:20079) is a protein-coding gene on chromosome 15q21.1, encoding Ubiquitin carboxyl-terminal hydrolase 50 (Q70EL3). Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.

Enables cysteine-type deubiquitinase activity. Involved in regulation of cell cycle G2/M phase transition. Acts upstream of or within several processes, including nuclear speck organization; positive regulation of NLRP3 inflammasome complex assembly; and positive regulation of interleukin-1 beta production. Located in centrosome; cytoplasm; and nucleus.

Source: NCBI Gene 373509 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 93 total — 1 pathogenic
• MANE Select transcript: NM_203494

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20079
Approved symbol	USP50
Name	ubiquitin specific peptidase 50
Location	15q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000170236
Ensembl biotype	protein_coding
OMIM	620563
Entrez	373509

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 protein_coding

ENST00000529349, ENST00000530218, ENST00000532404, ENST00000559105, ENST00000560159, ENST00000560380, ENST00000616326, ENST00000673660, ENST00000673693, ENST00000673738, ENST00000673895

RefSeq mRNA: 1 — MANE Select: NM_203494 NM_203494

CCDS: CCDS53944

Canonical transcript exons

ENST00000532404 — 7 exons

Exon	Start	End
ENSE00001322063	50544587	50544781
ENSE00002152371	50543598	50543793
ENSE00002195418	50500562	50500837
ENSE00002545900	50546473	50546666
ENSE00003458307	50529797	50529929
ENSE00003556488	50538709	50538851
ENSE00003631700	50541049	50541264

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 85.84.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0158 / max 17.1412, expressed in 3 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149865	0.0127	3
149866	0.0031	2

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	85.84	gold quality
right testis	UBERON:0004534	85.34	gold quality
testis	UBERON:0000473	85.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.25	gold quality
bone marrow	UBERON:0002371	77.79	gold quality
monocyte	CL:0000576	77.53	gold quality
right lobe of liver	UBERON:0001114	77.42	gold quality
leukocyte	CL:0000738	76.01	gold quality
bone marrow cell	CL:0002092	75.90	gold quality
skin of leg	UBERON:0001511	75.81	gold quality
calcaneal tendon	UBERON:0003701	75.59	gold quality
zone of skin	UBERON:0000014	75.53	gold quality
skin of abdomen	UBERON:0001416	75.36	gold quality
subcutaneous adipose tissue	UBERON:0002190	74.71	gold quality
ectocervix	UBERON:0012249	74.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.34	gold quality
tibial nerve	UBERON:0001323	74.00	gold quality
metanephros cortex	UBERON:0010533	73.78	gold quality
cortex of kidney	UBERON:0001225	73.68	gold quality
thoracic mammary gland	UBERON:0005200	73.29	gold quality
left lobe of thyroid gland	UBERON:0001120	73.06	gold quality
thyroid gland	UBERON:0002046	72.83	gold quality
adipose tissue	UBERON:0001013	72.69	gold quality
liver	UBERON:0002107	72.50	gold quality
rectum	UBERON:0001052	72.40	gold quality
right lobe of thyroid gland	UBERON:0001119	72.38	gold quality
right lung	UBERON:0002167	72.38	gold quality
upper lobe of left lung	UBERON:0008952	72.33	gold quality
vagina	UBERON:0000996	72.08	gold quality
uterine cervix	UBERON:0000002	72.07	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting USP50, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-6516-5P	98.42	70.19	1551
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-1304-3P	98.29	66.44	1207
HSA-MIR-1285-5P	98.01	68.71	779
HSA-MIR-345-5P	96.40	66.43	663
HSA-MIR-4636	91.87	64.93	40

Literature-anchored findings (GeneRIF, showing 5)

• USP50 may act through a HSP90-dependent mechanism to counteract CDC25B mitotic inducing activity and prevent Wee1 degradation. (PMID:20930503)
• the deubiquitinating enzyme USP50 binds to the ASC protein and subsequently regulates the inflammasome signaling pathway. (PMID:28094437)
• verexpression of USP50 has no effect on Ku70 mRNA levels, while it reduces Ku70 protein levels by promoting Ku70 degradation, suggesting that USP50 may indirectly regulate Ku70 protein stability. (PMID:29101126)
• USP50 regulates NLRP3 inflammasome activation in duodenogastric reflux-induced gastric tumorigenesis. (PMID:38469295)
• USP50 suppresses alternative RecQ helicase use and deleterious DNA2 activity during replication. (PMID:39284827)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Usp50	ENSMUSG00000027364
rattus_norvegicus	Usp50	ENSRNOG00000011401

Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP42 (ENSG00000106346), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP43 (ENSG00000154914), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP47 (ENSG00000170242), USP32 (ENSG00000170832)

Protein

Protein identifiers

Ubiquitin carboxyl-terminal hydrolase 50 — Q70EL3 (reviewed: Q70EL3)

Alternative names: Ubiquitin-specific peptidase 50

All UniProt accessions (5): Q70EL3, A0A087X0L6, A0A669KB43, H0YDN5, H0YNB9

UniProt curated annotations — full annotation on UniProt →

Function. Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates the inflammasome signaling pathway by deubiquitinating ‘Lys-63’-linked polyubiquitination of the PYCARD/ASC adapter protein. Regulates the ubiquitination and stability of the ACE2 protein. Acts as a negative regulator of the G2/M checkpoint pathway, by preventing serine/threonine kinase WEE1 degradation, thereby repressing entry into mitosis following activation of the G2/M DNA damage checkpoint.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus.

Tissue specificity. Weakly expressed in a few tissues.

Miscellaneous. Vitamin C blocks the USP50-ACE2 interaction and thereby promotes ACE2 degradation and restricts SARS-CoV-2 entry. Splicing events through non-canonical splice sites.

Similarity. Belongs to the peptidase C19 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q70EL3-1	1	yes
Q70EL3-2	2

RefSeq proteins (1): NP_987090* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001394	Peptidase_C19_UCH	Domain
IPR018200	USP_CS	Conserved_site
IPR028889	USP	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR050185	Ub_carboxyl-term_hydrolase	Family

Pfam: PF00443

UniProt features (7 total): active site 2, mutagenesis site 2, chain 1, domain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q70EL3-F1	80.69	0.55

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 53 (nucleophile); 327 (proton acceptor)

Mutagenesis-validated functional residues (2):

Position	Phenotype
53	abolishes ubiquitin-like protein peptidase activity.
327	does not affect ubiquitin-like protein peptidase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 93 (showing top): GOBP_ENDOSOME_ORGANIZATION, GOBP_INFLAMMATORY_RESPONSE, GOBP_VESICLE_ORGANIZATION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_INTERLEUKIN_1_PRODUCTION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM

GO Biological Process (8): endosome organization (GO:0007032), Ras protein signal transduction (GO:0007265), protein deubiquitination (GO:0016579), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of interleukin-18 production (GO:0032741), nuclear speck organization (GO:0035063), positive regulation of NLRP3 inflammasome complex assembly (GO:1900227), regulation of cell cycle G2/M phase transition (GO:1902749)

GO Molecular Function (4): cysteine-type deubiquitinase activity (GO:0004843), ubiquitin-like protein peptidase activity (GO:0019783), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)

GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), postsynaptic density (GO:0014069), midbody (GO:0030496), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
peptidase activity	2
endomembrane system organization	1
vesicle organization	1
small GTPase-mediated signal transduction	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
interleukin-1 beta production	1
regulation of interleukin-1 beta production	1
positive regulation of interleukin-1 production	1
positive regulation of cytokine production	1
interleukin-18 production	1
regulation of interleukin-18 production	1
nuclear body organization	1
positive regulation of protein-containing complex assembly	1
NLRP3 inflammasome complex assembly	1
positive regulation of inflammasome-mediated signaling pathway	1
regulation of NLRP3 inflammasome complex assembly	1
cell cycle G2/M phase transition	1
regulation of cell cycle phase transition	1
cysteine-type peptidase activity	1
deubiquitinase activity	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
asymmetric synapse	1
postsynaptic specialization	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

818 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP50	PAN2	Q504Q3	718
USP50	ZNF354A	O60765	701
USP50	USP47	Q96K76	700
USP50	USP7	Q93009	682
USP50	HSP90AA1	P07900	677
USP50	HSP90AB1	P08238	672
USP50	FRG2C	A6NGY1	665
USP50	USP54	Q70EL1	633
USP50	VCPIP1	Q96JH7	590
USP50	USP25	Q9UHP3	586
USP50	USPL1	Q5W0Q7	581
USP50	ABRAXAS2	Q15018	572
USP50	USP53	Q70EK8	567
USP50	USP13	Q92995	560
USP50	WDR48	Q8TAF3	557

IntAct

2 interactions, top by confidence:

A	B	Type	Score
USP50	IPO5	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): TMEM173 (Affinity Capture-Western), NLRP3 (Affinity Capture-Western), PYCARD (Affinity Capture-Western), PYCARD (Biochemical Activity), XRCC6 (Affinity Capture-MS), USP50 (Synthetic Lethality), USP50 (Affinity Capture-Western), CPT1A (Affinity Capture-Western), USP50 (Affinity Capture-MS), USP50 (Biochemical Activity), USP50 (Affinity Capture-Western), USP50 (Affinity Capture-Western), ACE2 (Biochemical Activity), USP50 (Reconstituted Complex), ACE2 (Reconstituted Complex)

ESM2 similar proteins: A5DAD0, B4JT42, F4IDQ6, F4INY4, F6Z5C0, O22207, O60079, O60139, O74442, O88501, O88673, P38237, P43589, P50102, P51784, P53010, P53015, Q02256, Q09738, Q09798, Q09879, Q09884, Q11119, Q17361, Q22036, Q2HJE4, Q4R6D3, Q5D006, Q5UQR3, Q60MK8, Q618H8, Q6C462, Q6FS70, Q6QN14, Q70EL3, Q7JKC3, Q8R5H1, Q93Y01, Q99K46, Q9C585

Diamond homologs: A0A0R4IB93, A0JM59, A5PMR2, A5PN09, A6NNY8, A6QNM7, A7Z056, B1AY13, B1WBD7, D2HBJ8, D6RBM5, E1C213, E7F6T8, E9Q9U0, F6Z5C0, F8VPU6, F8VPZ3, M9PD06, O00507, O22207, O60079, O74442, O94269, O94966, O96612, P0C7I0, P0C8Z3, P0CAQ1, P35125, P39538, P40453, P51784, P53874, P55824, P70398, Q01988, Q09738, Q0V9G5, Q28CN3, Q2HJE4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

93 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	60
Likely benign	14
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
915336	NM_005154.5(USP8):c.2971C>T (p.Arg991Ter)	Pathogenic

SpliceAI

2068 predictions. Top by Δscore:

Variant	Effect	Δscore
15:50494060:A:AG	acceptor_gain	1.0000
15:50494067:C:G	acceptor_gain	1.0000
15:50494276:ATAAA:A	donor_gain	1.0000
15:50494277:TAAA:T	donor_gain	1.0000
15:50494277:TAAAG:T	donor_loss	1.0000
15:50494278:AAA:A	donor_gain	1.0000
15:50494278:AAAGT:A	donor_loss	1.0000
15:50494279:AA:A	donor_gain	1.0000
15:50494279:AAGT:A	donor_loss	1.0000
15:50494280:AG:A	donor_loss	1.0000
15:50494281:G:GG	donor_gain	1.0000
15:50494281:GT:G	donor_loss	1.0000
15:50494282:T:A	donor_loss	1.0000
15:50497196:G:GT	donor_gain	1.0000
15:50497241:A:T	donor_gain	1.0000
15:50498594:A:AG	acceptor_gain	1.0000
15:50498595:G:GG	acceptor_gain	1.0000
15:50498724:TTTCA:T	donor_gain	1.0000
15:50498729:G:GG	donor_gain	1.0000
15:50498895:T:TA	acceptor_gain	1.0000
15:50498900:C:G	acceptor_gain	1.0000
15:50543792:CGCT:C	acceptor_gain	1.0000
15:50543795:T:C	acceptor_gain	1.0000
15:50544585:A:AC	donor_gain	1.0000
15:50544586:C:CC	donor_gain	1.0000
15:50494050:A:AG	acceptor_gain	0.9900
15:50494060:ATTT:A	acceptor_gain	0.9900
15:50494061:T:G	acceptor_gain	0.9900
15:50494066:A:AG	acceptor_gain	0.9900
15:50494066:ACAG:A	acceptor_gain	0.9900

AlphaMissense

2209 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000087900 (15:50544964 A>G), RS1000094384 (15:50493159 G>A,C,T), RS1000135239 (15:50499683 A>G), RS1000169749 (15:50497998 A>G), RS1000193660 (15:50493242 A>G), RS1000224488 (15:50493627 C>G), RS1000226482 (15:50533282 A>G), RS1000384895 (15:50499387 T>C), RS1000436438 (15:50527562 C>A,T), RS1000484662 (15:50547195 A>T), RS1000552933 (15:50539099 T>G), RS1000561103 (15:50534916 G>A), RS1000602594 (15:50497772 A>G), RS1000613362 (15:50492801 C>T), RS1000616564 (15:50540619 T>A)

Disease associations

OMIM: gene MIM:620563 | disease phenotypes: MIM:303350

GenCC curated gene-disease

Mondo (1): hereditary spastic paraplegia (MONDO:0019064)

Orphanet (1): Hereditary spastic paraplegia (Orphanet:685)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002500_74	QT interval	3.000000e-12
GCST004608_197	Granulocyte percentage of myeloid white cells	8.000000e-09
GCST004610_143	White blood cell count	2.000000e-12
GCST004613_42	Sum neutrophil eosinophil counts	6.000000e-12
GCST004614_21	Granulocyte count	2.000000e-11
GCST004626_132	Myeloid white cell count	2.000000e-11
GCST010002_169	Refractive error	6.000000e-12

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
CGP 52608	affects binding, increases reaction	1
jinfukang	decreases expression	1
Leflunomide	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

51 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT03961906	PHASE2	COMPLETED	Physiotherapy in Hereditary Spastic Paraplegia
NCT04768166	PHASE2	COMPLETED	Testing Miglustat Administration in Subjects With Spastic Paraplegia 11
NCT06117020	PHASE1	COMPLETED	Single and Multiple Ascending Dose Study of MTR-601 in Healthy Individuals
NCT02604186	PHASE2/PHASE3	COMPLETED	Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT06948019	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)
NCT06478238	EARLY_PHASE1	RECRUITING	Calcium Folinate Treatment of Spastic Paraplegia 56
NCT00023075	Not specified	COMPLETED	Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis
NCT00136630	Not specified	COMPLETED	Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00140829	Not specified	COMPLETED	SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
NCT00677768	Not specified	COMPLETED	Validation of Biomarkers in Amyotrophic Lateral Sclerosis (ALS)
NCT01568658	Not specified	ACTIVE_NOT_RECRUITING	Genetic and Physical Study of Childhood Nerve and Muscle Disorders
NCT02327845	Not specified	ENROLLING_BY_INVITATION	Phenotype, Genotype & Biomarkers in ALS and Related Disorders
NCT02852278	Not specified	COMPLETED	A Patient Centric Motor Neuron Disease Activities of Daily Living Scale
NCT02859428	Not specified	TERMINATED	Disease Natural History and Biomarkers of SPG3A, SPG4A, and SPG31
NCT03104088	Not specified	COMPLETED	Studying Cognition in SPG4
NCT03206190	Not specified	RECRUITING	The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4
NCT03627416	Not specified	COMPLETED	Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy
NCT03981276	Not specified	RECRUITING	Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders
NCT04006418	Not specified	RECRUITING	A Registered Cohort Study on Spastic Paraplegia
NCT04180098	Not specified	COMPLETED	Improving Gait Adaptability in Hereditary Spastic Paraplegia
NCT04256681	Not specified	COMPLETED	SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP)
NCT04712812	Not specified	RECRUITING	Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia
NCT04875416	Not specified	ACTIVE_NOT_RECRUITING	Phenotype, Genotype and Biomarkers 2
NCT04912609	Not specified	COMPLETED	Trehalose Administration in Subjects With Spastic Paraplegia 11 (3AL-SPG11)
NCT05354622	Not specified	RECRUITING	Hereditary Spastic Paraplegia Genomic Sequencing Initiative (HSPseq)
NCT05373082	Not specified	COMPLETED	Identification of Modifying Factors in Hereditary Spastic Paraplegia
NCT05411627	Not specified	WITHDRAWN	A Pilot Study of Shockwave Therapy in HSP
NCT05432999	Not specified	COMPLETED	Extracorporeal Shockwave Therapy for Spasticity in People With Spinal Cord Injury
NCT05613114	Not specified	COMPLETED	Effect of Dalfampridine in Patients With Hereditary Spastic Paraplegia
NCT05767268	Not specified	COMPLETED	Assessment of the Psychophysical State During Rehabilitation Treatment With Lokomat
NCT05848271	Not specified	RECRUITING	Natural History Study of Patients with HPDL Mutations
NCT06156813	Not specified	RECRUITING	Turkish Lower-Extremity Motor Activity Log (LE-MAL)
NCT06229626	Not specified	RECRUITING	Evaluation of an Intensive Training Program for Patients with Hereditary Spastic Paraparesis SPG4/Spast
NCT06260982	Not specified	UNKNOWN	Cognitive Disorders in Hereditary Spastic Paraplegia Type 4
NCT06553976	Not specified	RECRUITING	Spastic Paraplegia - Centers of Excellence Research Network
NCT06572046	Not specified	RECRUITING	STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
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