PHYHD1

Summary

PHYHD1 (phytanoyl-CoA dioxygenase domain containing 1, HGNC:23396) is a protein-coding gene on chromosome 9q34.11, encoding Phytanoyl-CoA dioxygenase domain-containing protein 1 (Q5SRE7). 2-oxoglutarate(2OG)-dependent dioxygenase that catalyzes the conversion of 2-oxoglutarate to succinate and CO(2) in an iron-dependent manner.

Enables 2-oxoglutarate-dependent dioxygenase activity.

Source: NCBI Gene 254295 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 81 total
• MANE Select transcript: NM_001100876

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23396
Approved symbol	PHYHD1
Name	phytanoyl-CoA dioxygenase domain containing 1
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	MGC16638
Ensembl gene	ENSG00000175287
Ensembl biotype	protein_coding
OMIM	620042
Entrez	254295

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 31 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000308941, ENST00000353176, ENST00000372592, ENST00000412476, ENST00000419552, ENST00000419872, ENST00000421063, ENST00000424503, ENST00000426694, ENST00000428610, ENST00000442837, ENST00000451000, ENST00000487504, ENST00000875818, ENST00000875819, ENST00000875820, ENST00000875821, ENST00000875822, ENST00000875823, ENST00000875824, ENST00000875825, ENST00000875826, ENST00000875827, ENST00000875828, ENST00000875829, ENST00000875830, ENST00000875831, ENST00000875832, ENST00000875833, ENST00000916273, ENST00000916274, ENST00000970308, ENST00000970309, ENST00000970310, ENST00000970311

RefSeq mRNA: 3 — MANE Select: NM_001100876 NM_001100876, NM_001100877, NM_174933

CCDS: CCDS43885, CCDS43886, CCDS6914

Canonical transcript exons

ENST00000372592 — 13 exons

Exon	Start	End
ENSE00001404383	128920982	128921668
ENSE00001412360	128922283	128922356
ENSE00001426496	128921930	128922047
ENSE00003479837	128936448	128936503
ENSE00003504917	128940599	128940715
ENSE00003545458	128937757	128937778
ENSE00003556702	128941445	128941571
ENSE00003586973	128940369	128940497
ENSE00003588225	128933782	128933857
ENSE00003610723	128934011	128934058
ENSE00003620007	128941668	128942038
ENSE00003678567	128936583	128936645
ENSE00003788911	128927038	128927196

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 96.51.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.7427 / max 100.8505, expressed in 1100 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
98861	7.1362	1090
98862	0.2779	168
98857	0.1187	58
98859	0.0972	56
98858	0.0893	43
98860	0.0234	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	96.51	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.07	gold quality
right lobe of liver	UBERON:0001114	95.85	gold quality
apex of heart	UBERON:0002098	95.54	gold quality
right lobe of thyroid gland	UBERON:0001119	95.45	gold quality
left lobe of thyroid gland	UBERON:0001120	95.22	gold quality
left ovary	UBERON:0002119	94.95	gold quality
skin of abdomen	UBERON:0001416	94.63	gold quality
right ovary	UBERON:0002118	94.26	gold quality
thyroid gland	UBERON:0002046	94.22	gold quality
endocervix	UBERON:0000458	94.21	gold quality
metanephros cortex	UBERON:0010533	94.21	gold quality
peripheral nervous system	UBERON:0000010	94.11	gold quality
tibial nerve	UBERON:0001323	94.11	gold quality
minor salivary gland	UBERON:0001830	94.08	gold quality
skin of leg	UBERON:0001511	94.05	gold quality
adult mammalian kidney	UBERON:0000082	93.74	gold quality
saliva-secreting gland	UBERON:0001044	93.58	gold quality
descending thoracic aorta	UBERON:0002345	93.57	gold quality
right atrium auricular region	UBERON:0006631	93.51	gold quality
body of stomach	UBERON:0001161	93.45	gold quality
right uterine tube	UBERON:0001302	93.41	gold quality
amygdala	UBERON:0001876	93.20	gold quality
left uterine tube	UBERON:0001303	93.15	gold quality
kidney epithelium	UBERON:0004819	93.04	silver quality
thoracic aorta	UBERON:0001515	93.03	gold quality
popliteal artery	UBERON:0002250	92.96	gold quality
tibial artery	UBERON:0007610	92.95	gold quality
cardiac atrium	UBERON:0002081	92.92	gold quality
aorta	UBERON:0000947	92.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting PHYHD1, 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-1827	99.63	68.57	3265
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-3150B-3P	98.81	67.21	1728
HSA-MIR-6761-5P	98.71	68.03	1504

Literature-anchored findings (GeneRIF, showing 2)

• PHYHD1A has the double-stranded beta-helix fold and Fe(II) and cosubstrate binding residues characteristic of the 2-oxoglutarate dependent oxygenases and catalyzes the conversion of 2-oxoglutarate to succinate and CO(2) in an iron-dependent manner. (PMID:21530488)
• Human phytanoyl-CoA dioxygenase domain-containing 1 (PHYHD1) is a putative oxygen sensor associated with RNA and carbohydrate metabolism. (PMID:37235702)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	phyhd1	ENSDARG00000029905
mus_musculus	Phyhd1	ENSMUSG00000079484
rattus_norvegicus	Phyhd1	ENSRNOG00000016794
drosophila_melanogaster	Phyhd1	FBGN0037819
caenorhabditis_elegans		WBGENE00013650

Protein

Protein identifiers

Phytanoyl-CoA dioxygenase domain-containing protein 1 — Q5SRE7 (reviewed: Q5SRE7)

All UniProt accessions (9): Q5SRE7, F8WCG7, G5E9M0, H7C2Q0, H7C3M4, I7HJS6, X6RCI6, X6RFQ9, X6RJK6

UniProt curated annotations — full annotation on UniProt →

Function. 2-oxoglutarate(2OG)-dependent dioxygenase that catalyzes the conversion of 2-oxoglutarate to succinate and CO(2) in an iron-dependent manner. However, does not couple 2OG turnover to the hydroxylation of acyl-coenzyme A derivatives, implying that it is not directly involved in phytanoyl coenzyme-A metabolism. Does not show detectable activity towards fatty acid CoA thioesters. Isoform 2 probably lacks enzyme activity. Isoform 3 probably lacks enzyme activity.

Activity regulation. Activity is increased by ascorbate. Inhibited by myristoyl-CoA.

Similarity. Belongs to the PhyH family. PHYHD1 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5SRE7-1	1, A, PHYHD1A	yes
Q5SRE7-2	2, C, PHYHD1C
Q5SRE7-3	3, B, PHYHD1B

RefSeq proteins (3): NP_001094346, NP_001094347, NP_777593 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008775	Phytyl_CoA_dOase-like	Family

Pfam: PF05721

UniProt features (48 total): strand 19, helix 11, binding site 9, turn 3, splice variant 2, chain 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2OPW	X-RAY DIFFRACTION	1.9
3OBZ	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SRE7-F1	93.61	0.83

Functional residue map

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

Ligand- & substrate-binding residues (9): 102; 141; 156–158; 156; 158; 174; 246; 248; 257

Post-translational modifications (1): 55

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 97 (showing top): GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_UP, GOMF_DIOXYGENASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MIKKELSEN_MEF_LCP_WITH_H3K4ME3, MIKKELSEN_IPS_LCP_WITH_H3K4ME3, MIKKELSEN_ES_LCP_WITH_H3K4ME3, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_B, DELACROIX_RARG_BOUND_MEF, chr9q34, HES2_TARGET_GENES, ID1_TARGET_GENES, PRKDC_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (5): 2-oxoglutarate-dependent dioxygenase activity (GO:0016706), metal ion binding (GO:0046872), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), dioxygenase activity (GO:0051213)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	1
dioxygenase activity	1
cation binding	1
binding	1
catalytic activity	1
oxidoreductase activity	1

Protein interactions and networks

STRING

1196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHYHD1	ZNF705B	P0CI00	419
PHYHD1	C16orf86	Q6ZW13	397
PHYHD1	CZIB	Q9NWV4	385
PHYHD1	AASDH	Q4L235	368
PHYHD1	ZNF844	Q08AG5	368
PHYHD1	YRDC	Q86U90	365
PHYHD1	OCEL1	Q9H607	360
PHYHD1	ZNF829	Q3KNS6	360
PHYHD1	TLCD1	Q96CP7	359
PHYHD1	C22orf42	Q6IC83	356
PHYHD1	ALDH18A1	P54886	353
PHYHD1	MTRNR2L3	P0CJ70	349
PHYHD1	TTF2	Q9UNY4	345
PHYHD1	MT-ATP6	P00846	338
PHYHD1	ZNF251	Q9BRH9	337

IntAct

8 interactions, top by confidence:

A	B	Type	Score
PHYHD1	POT1	psi-mi:“MI:0915”(physical association)	0.510
	PHYHD1	psi-mi:“MI:0915”(physical association)	0.370
HNRNPLL	TBX3	psi-mi:“MI:0914”(association)	0.350
LGALS9B	ABCC4	psi-mi:“MI:0914”(association)	0.350
PHYHD1	IPO7	psi-mi:“MI:0914”(association)	0.350
PHYHD1	POT1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): PHYHD1 (Reconstituted Complex), PHYHD1 (Affinity Capture-MS), PHYHD1 (Affinity Capture-MS), PHYHD1 (Affinity Capture-MS), PHYHD1 (Affinity Capture-MS), PRPS1 (Affinity Capture-MS), IPO7 (Affinity Capture-MS), PHYHD1 (Two-hybrid), APP (Reconstituted Complex)

ESM2 similar proteins: B4G0F3, B5DEQ3, B7ZMP1, B8BKI7, B9SQI7, C1BYA3, C6JS30, E0CSI1, E0CTF3, E9Q4Z2, O00763, O14832, O15229, O18778, O35386, O62515, O88867, O94851, P09925, P0CF52, P28492, P37287, P57093, Q08C93, Q0IIB1, Q0VC74, Q1RLY6, Q2R483, Q571F8, Q5BJP9, Q5F4B3, Q5R5T5, Q5R9W8, Q5SRE7, Q64323, Q6DIZ8, Q6GQI7, Q6IQE9, Q812G0, Q91WN4

Diamond homologs: P0C660, Q0IIB1, Q10E49, Q54XH6, Q5BJP9, Q5SRE7, Q5U3U0, Q65WW7, Q9DB26, Q9NAM7, Q9ZVF6, D0E8I4, Q5MNH2, Q5MNH9, P0DX11, O14832, O18778, O35386, P57093

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	14
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1940 predictions. Top by Δscore:

Variant	Effect	Δscore
9:128922282:GGA:G	acceptor_gain	1.0000
9:128922352:AGAAG:A	donor_loss	1.0000
9:128922356:GGTAG:G	donor_loss	1.0000
9:128922357:GTAG:G	donor_loss	1.0000
9:128922358:T:A	donor_loss	1.0000
9:128936446:A:AG	acceptor_gain	1.0000
9:128936447:G:GG	acceptor_gain	1.0000
9:128936447:GCTC:G	acceptor_gain	1.0000
9:128936447:GCTCT:G	acceptor_gain	1.0000
9:128936499:TGCAG:T	donor_loss	1.0000
9:128936500:GCAGG:G	donor_loss	1.0000
9:128936501:CAGGT:C	donor_loss	1.0000
9:128936502:AGGTG:A	donor_loss	1.0000
9:128936504:GTGA:G	donor_loss	1.0000
9:128940498:G:GG	donor_gain	1.0000
9:128941439:T:TA	acceptor_gain	1.0000
9:128941442:CAG:C	acceptor_loss	1.0000
9:128941443:A:AG	acceptor_gain	1.0000
9:128941443:AG:A	acceptor_gain	1.0000
9:128941443:AGG:A	acceptor_gain	1.0000
9:128941443:AGGG:A	acceptor_gain	1.0000
9:128941444:G:A	acceptor_gain	1.0000
9:128941444:G:GC	acceptor_gain	1.0000
9:128941444:GGG:G	acceptor_gain	1.0000
9:128941444:GGGG:G	acceptor_gain	1.0000
9:128941444:GGGGC:G	acceptor_gain	1.0000
9:128921066:C:G	donor_gain	0.9900
9:128922279:CCA:C	acceptor_loss	0.9900
9:128922281:A:AG	acceptor_gain	0.9900
9:128922281:AG:A	acceptor_gain	0.9900

AlphaMissense

1915 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:128927161:T:C	F53L	0.997
9:128927163:C:A	F53L	0.997
9:128927163:C:G	F53L	0.997
9:128936628:A:C	S140R	0.996
9:128936630:C:A	S140R	0.996
9:128936630:C:G	S140R	0.996
9:128940392:T:C	F161L	0.993
9:128940394:C:A	F161L	0.993
9:128940394:C:G	F161L	0.993
9:128934048:A:C	K102N	0.992
9:128934048:A:T	K102N	0.992
9:128936645:G:C	K145N	0.992
9:128936645:G:T	K145N	0.992
9:128941477:C:G	H246D	0.992
9:128941528:C:G	H263D	0.991
9:128941569:C:A	N276K	0.991
9:128941569:C:G	N276K	0.991
9:128936629:G:T	S140I	0.990
9:128941570:T:A	W277R	0.990
9:128941570:T:C	W277R	0.990
9:128940377:C:G	H156D	0.989
9:128940383:G:C	D158H	0.988
9:128941555:T:A	W272R	0.988
9:128941555:T:C	W272R	0.988
9:128933806:A:C	S73R	0.987
9:128933808:T:A	S73R	0.987
9:128933808:T:G	S73R	0.987
9:128934047:A:T	K102I	0.987
9:128940431:T:A	W174R	0.987
9:128940431:T:C	W174R	0.987

dbSNP variants (sampled 300 via entrez): RS1000077209 (9:128929565 TG>T), RS1000179391 (9:128922626 C>G), RS1000248876 (9:128935732 T>C), RS1000332648 (9:128929072 T>C), RS1000383433 (9:128928692 G>A), RS1000424899 (9:128929343 A>T), RS1000664744 (9:128927255 G>A,C), RS1000804415 (9:128924520 G>C), RS1000857088 (9:128936215 G>A), RS1000914492 (9:128921459 C>A,T), RS1001031964 (9:128930732 A>G), RS1001078279 (9:128919282 G>A), RS1001289316 (9:128935873 G>T), RS1001506845 (9:128928074 G>A,T), RS1001666661 (9:128921931 T>C,G)

Disease associations

OMIM: gene MIM:620042 | disease phenotypes: MIM:143890

GenCC curated gene-disease

Mondo (1): hypercholesterolemia, familial, 1 (MONDO:0007750)

Orphanet (1): Homozygous familial hypercholesterolemia (Orphanet:391665)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST009733_143	Urinary metabolite levels in chronic kidney disease	1.000000e-55
GCST009733_144	Urinary metabolite levels in chronic kidney disease	3.000000e-37
GCST012020_22	Serum metabolite levels	4.000000e-189
GCST012020_406	Serum metabolite levels	2.000000e-230
GCST012020_407	Serum metabolite levels	2.000000e-38
GCST012353_3	Serum metabolite concentrations in chronic kidney disease	2.000000e-12
GCST012353_36	Serum metabolite concentrations in chronic kidney disease	2.000000e-42

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, affects cotreatment	7
Benzo(a)pyrene	decreases expression, increases methylation	2
Tetrachlorodibenzodioxin	decreases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
methyleugenol	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Ivermectin	decreases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06231459	PHASE4	COMPLETED	Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia
NCT00000594	PHASE3	COMPLETED	NHLBI Type II Coronary Intervention Study
NCT00092833	PHASE3	TERMINATED	Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
NCT00134485	PHASE3	COMPLETED	Study To Evaluate The Safety And Efficacy Of Torcetrapib/Atorvastatin In Subjects With Familial Hypercholerolemia
NCT00134511	PHASE3	COMPLETED	Study To Evaluate The Effect Of Torcetrapib/Atorvastatin In Patients With Genetic High Cholesterol Disorder
NCT00136981	PHASE3	COMPLETED	Carotid B-Mode Ultrasound Study to Compare Anti-Atherosclerotic Effect of Torcetrpib/Atorvastatin to Atorvastatin Alone.
NCT00384293	PHASE3	TERMINATED	Carotid IMT (Intima Media Thickening) Study (0524A-041)(TERMINATED)
NCT01524289	PHASE3	COMPLETED	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)
NCT00280995	PHASE2	COMPLETED	Dose-escalating Safety Study of ISIS 301012 in Homozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT00281008	PHASE2	COMPLETED	Study of ISIS 301012 (Mipomersen) in Heterozygous Familial Hypercholesterolemia Subjects on Lipid Lowering Therapy
NCT01375751	PHASE2	COMPLETED	Reduction of Low-Density Lipoprotein Cholesterol (LDL-C) With PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder Study
NCT00515307	PHASE1	COMPLETED	Bone Marrow Stem Cells as a Source of Allogenic Hepatocyte Transplantation in Homozygous Familial Hypercholesterolemia
NCT01583647	PHASE1	TERMINATED	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)
NCT00005168	Not specified	COMPLETED	Hyperapo B and Coronary Heart Disease
NCT01753232	Not specified	COMPLETED	Safety and Efficacy of the DALI LDL-adsorber and MONET Lipoprotein Filter
NCT03018678	Not specified	COMPLETED	Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia
NCT03110432	Not specified	COMPLETED	Prospective German Very High Cardiovascular Risk Patients Dyslipidemia Treatment Indication Registry
NCT03795038	Not specified	COMPLETED	Comparison of the Plasma Lipoprotein Apheresis Systems DIAMED and MONET vs. the Whole Blood Apheresis System DALI
NCT03989167	Not specified	RECRUITING	Clinical Decision Support for Familial Hypercholesterolemia
NCT04073797	Not specified	RECRUITING	PET Imaging of Inflammation and Lipid Lowering Study
NCT04118348	Not specified	COMPLETED	Evaluating the Efficacy of Pediatric Lipid Screening Alerts
NCT04313270	Not specified	UNKNOWN	Subclinical Atherosclerosis in Patients With Familial Hypercholesterolemia Treated With Evolocumab®
NCT04526457	Not specified	COMPLETED	Is Family Screening Improved by Genetic Testing of Familial Hypercholesterolemia
NCT04656028	Not specified	ACTIVE_NOT_RECRUITING	Genetic Testing and Motivational Counseling for FH
NCT04722068	Not specified	COMPLETED	Regeneron 1331 Kinetics Sub-Study HoFH
NCT04837638	Not specified	UNKNOWN	Diet Quality and Coronary Artery Calcification in Adults With Heterozygous Familial Hypercholesterolemia
NCT06555120	Not specified	RECRUITING	Screening for Familial Hypercholesterolemia in Children
NCT07543731	Not specified	NOT_YET_RECRUITING	A Real-World Study of Long-Term Adherence and Persistence to Inclisiran, Evolocumab, and Alirocumab