X-linked dominant hypophosphatemic rickets

Summary

X-linked dominant hypophosphatemic rickets (MONDO:0010619) is a disease caused by PHEX (GenCC Definitive), with 4 cohort genes and 45 clinical trials. Top therapeutic interventions include burosumab, cinacalcet, and calcitriol.

At a glance

• Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
• Causal gene: PHEX (GenCC Definitive)
• Cohort genes: 4
• ClinVar variants: 479
• Phenotypes (HPO): 52
• Clinical trials: 45

Clinical features

Epidemiology

Prevalence records

5 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	4.5	Worldwide	Validated
Point prevalence	1-9 / 100 000	2.14	Worldwide	Validated
Point prevalence	1-9 / 100 000	1.66	Europe	Validated
Point prevalence	1-9 / 100 000	1.89	Norway	Validated
Point prevalence	1-9 / 100 000	1.54	United Kingdom	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0000117	Renal phosphate wasting	Very frequent (80-99%)
HP:0002148	Hypophosphatemia	Very frequent (80-99%)
HP:0002748	Rickets	Very frequent (80-99%)
HP:0003127	Hypocalciuria	Very frequent (80-99%)
HP:0003155	Elevated circulating alkaline phosphatase concentration	Very frequent (80-99%)
HP:0006490	Abnormality of lower-limb metaphyses	Very frequent (80-99%)
HP:0000121	Nephrocalcinosis	Frequent (30-79%)
HP:0000694	Odontodysplasia	Frequent (30-79%)
HP:0000897	Rachitic rosary	Frequent (30-79%)
HP:0001510	Growth delay	Frequent (30-79%)
HP:0002653	Bone pain	Frequent (30-79%)
HP:0002829	Arthralgia	Frequent (30-79%)
HP:0002857	Genu valgum	Frequent (30-79%)
HP:0002970	Genu varum	Frequent (30-79%)
HP:0002979	Bowing of the legs	Frequent (30-79%)
HP:0003498	Disproportionate short stature	Frequent (30-79%)
HP:0003856	Upper limb metaphyseal widening	Frequent (30-79%)
HP:0004349	Reduced bone mineral density	Frequent (30-79%)
HP:0005930	Abnormality of epiphysis morphology	Frequent (30-79%)
HP:0006487	Bowing of the long bones	Frequent (30-79%)
HP:0008117	Shortening of the talar neck	Frequent (30-79%)
HP:0008144	Flattening of the talar dome	Frequent (30-79%)
HP:0010299	Abnormality of dentin	Frequent (30-79%)
HP:0025335	Delayed ability to stand	Frequent (30-79%)
HP:0030757	Tooth abscess	Frequent (30-79%)
HP:0031936	Delayed ability to walk	Frequent (30-79%)
HP:0006640	Multiple ribs fractures	Occasional (5-29%)
HP:0006432	Trapezoidal distal femoral condyles	Occasional (5-29%)
HP:0007099	Chiari type I malformation	Occasional (5-29%)
HP:0008442	Vertebral hyperostosis	Occasional (5-29%)
HP:0012378	Fatigue	Occasional (5-29%)
HP:0012449	Sacroiliac joint synovitis	Occasional (5-29%)
HP:0025369	Thick growth plates	Occasional (5-29%)
HP:0100686	Enthesitis	Occasional (5-29%)
HP:6000407	Elevated circulating fibroblast growth factor 23 concentration	Occasional (5-29%)
HP:0000360	Tinnitus	Occasional (5-29%)
HP:0000787	Nephrolithiasis	Occasional (5-29%)
HP:0000867	Secondary hyperparathyroidism	Occasional (5-29%)
HP:0000920	Enlargement of the costochondral junction	Occasional (5-29%)
HP:0001324	Muscle weakness	Occasional (5-29%)
HP:0001363	Craniosynostosis	Occasional (5-29%)
HP:0001369	Arthritis	Occasional (5-29%)
HP:0001376	Limitation of joint mobility	Occasional (5-29%)
HP:0002007	Frontal bossing	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002176	Spinal cord compression	Occasional (5-29%)
HP:0002360	Sleep abnormality	Occasional (5-29%)
HP:0002869	Flared iliac wings	Occasional (5-29%)
HP:0003416	Spinal canal stenosis	Occasional (5-29%)
HP:0000407	Sensorineural hearing impairment	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked dominant hypophosphatemic rickets
Mondo ID	MONDO:0010619
OMIM	307800
Orphanet	89936
DOID	DOID:0050445
NCIT	C85234
SNOMED CT	82236004
UMLS	C0733682
MedGen	196551
GARD	0012943
Is cancer (heuristic)	no

Also known as: hereditary hypophosphatemic rickets, X-linked · HPDR · HYP · hypophophatemia, X-linked · hypophophatemic vitamin D-resistant rickets · hypophosphatemic rickets, X-linked · hypophosphatemic rickets, X-linked dominant · hypophosphatemic rickets, X-linked dominant, X-linked dominant · rickets, vitamin D-resistant · vitamin D-resistant rickets, X-linked · X-linked dominant hypophosphatemic rickets · X-linked hereditary hypophosphatemic rickets · X-linked hypophosphatemia · X-linked hypophosphatemic rickets · XLH · XLHR

Data availability: 479 ClinVar variants · 5 GenCC gene-disease records · 2 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › X-linked disease › X-linked dominant disease › X-linked dominant hypophosphatemic rickets

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

479 retrieved; paginated sample, class counts are floors:

231 pathogenic, 72 uncertain significance, 53 pathogenic/likely pathogenic, 50 likely pathogenic, 38 conflicting classifications of pathogenicity, 16 benign/likely benign, 11 benign, 8 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
10818	NM_000444.4(PHEX):c.[755T>C;759G>A]		Pathogenic	no assertion criteria provided
1013602	NC_000023.11:g.22243338_22690207del	CBLL2	Pathogenic	criteria provided, single submitter
438562	NC_000023.10:g.22256748_22370988del114241	CBLL2	Pathogenic	criteria provided, single submitter
989452	NC_000023.11:g.22213388_22345581del	CBLL2	Pathogenic	criteria provided, single submitter
207994	NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter)	CLCN5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3376485	GRCh38/hg38 Xp22.12-22.11(chrX:21743750-22114586)x3	LOC125446275	Pathogenic	criteria provided, single submitter
438503	NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del	LOC130068043	Pathogenic	criteria provided, single submitter
438529	NC_000023.10:g.(22208620_22231047)(22266070?)del	LOC130068043	Pathogenic	criteria provided, single submitter
438551	NM_000444.6(PHEX):c.1587-2145_1645+3342del	LOC130068043	Pathogenic	criteria provided, single submitter
1029848	NM_000444.6(PHEX):c.1966-1G>T	PHEX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067658	NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)	PHEX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069386	NM_000444.6(PHEX):c.1079+2T>G	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1074361	NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1075001	NM_000444.6(PHEX):c.455dup (p.Asp152fs)	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1075337	NM_000444.6(PHEX):c.2058_2061dup (p.Tyr688fs)	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1075410	NM_000444.6(PHEX):c.1173+1G>A	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1075411	NM_000444.6(PHEX):c.1174-1G>A	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
10814	NM_000444.6(PHEX):c.119-1G>A	PHEX	Pathogenic	no assertion criteria provided
10815	NM_000444.6(PHEX):c.119-1G>C	PHEX	Pathogenic	no assertion criteria provided
10816	NM_000444.6(PHEX):c.830T>A (p.Leu277Ter)	PHEX	Pathogenic	criteria provided, single submitter
10817	NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr)	PHEX	Pathogenic	criteria provided, single submitter
10819	NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)	PHEX	Pathogenic	criteria provided, single submitter
10820	PHEX, A-G, NT-429	PHEX	Pathogenic	no assertion criteria provided
10822	NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1202481	NM_000444.6(PHEX):c.1769-1G>C	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1339456	NM_000444.6(PHEX):c.2071-1G>C	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1342023	NM_000444.6(PHEX):c.142dup (p.Gln48fs)	PHEX	Pathogenic	no assertion criteria provided
1343090	NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys)	PHEX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1366973	NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)	PHEX	Pathogenic	criteria provided, multiple submitters, no conflicts
1380821	NM_000444.6(PHEX):c.732+1G>T	PHEX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

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
PHEX	Definitive	X-linked	X-linked dominant hypophosphatemic rickets	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PHEX	Orphanet:89936	X-linked hypophosphatemia
CLCN5	Orphanet:93622	Dent disease type 1

Cohort genes → proteins

4 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PHEX	HGNC:8918	ENSG00000102174	P78562	Phosphate-regulating neutral endopeptidase PHEX	gencc,clinvar
CLCN5	HGNC:2023	ENSG00000171365	P51795	H(+)/Cl(-) exchange transporter 5	clinvar
CBLL2	HGNC:26371	ENSG00000175809	Q8N7E2	E3 ubiquitin-protein ligase CBLL2	clinvar
PTCHD1-AS	HGNC:37703	ENSG00000233067		PTCHD1 and PHEX antisense RNA	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PHEX	Phosphate-regulating neutral endopeptidase PHEX	Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity.
CLCN5	H(+)/Cl(-) exchange transporter 5	Proton-coupled chloride transporter.
CBLL2	E3 ubiquitin-protein ligase CBLL2	E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.25

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
Protease	1	9.2×	0.315
Transcription factor	1	2.1×	0.605
Other/Unknown	2	0.9×	0.769

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PHEX	Protease	yes	3.4.24.B15	Peptidase_M13, Peptidase_M13_N, Peptidase_M13_C
CLCN5	Other/Unknown	no		CBS_dom, ClC, Cl_channel-5
CBLL2	Transcription factor	no		Znf_RING, Znf_RING/FYVE/PHD, Znf_C2H2_type
PTCHD1-AS	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

3 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)	1
broad (>20)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
secondary oocyte	2
oocyte	1
tibia	1
corpus epididymis	1
renal medulla	1
left testis	1
right testis	1
sperm	1
bone marrow cell	1
ganglionic eminence	1
pancreas	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PHEX	139	tissue_specific	marker	secondary oocyte, tibia, oocyte
CLCN5	218	ubiquitous	marker	renal medulla, secondary oocyte, corpus epididymis
CBLL2	11		marker	sperm, left testis, right testis
PTCHD1-AS	75		yes	bone marrow cell, ganglionic eminence, pancreas

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CLCN5	1,345
PHEX	856
CBLL2	490
PTCHD1-AS	0

Intra-cohort edges

A	B	Sources
CLCN5	PHEX	string_interaction

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CLCN5	P51795	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PHEX	P78562	94.58
CBLL2	Q8N7E2	55.14

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 5. Enrichment computed across 4 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
Stimuli-sensing channels	1	68.0×	0.071	CLCN5
Class I MHC mediated antigen processing & presentation	1	35.0×	0.071	CBLL2
Antigen processing: Ubiquitination & Proteasome degradation	1	18.6×	0.082	CBLL2
Adaptive Immune System	1	14.9×	0.082	CBLL2
Immune System	1	6.5×	0.148	CBLL2

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
organophosphate metabolic process	1	5617.3×	0.004	PHEX
response to insulin-like growth factor stimulus	1	936.2×	0.008	PHEX
response to sodium phosphate	1	561.7×	0.008	PHEX
cellular response to vitamin D	1	510.7×	0.008	PHEX
cellular response to parathyroid hormone stimulus	1	468.1×	0.008	PHEX
renal system process	1	374.5×	0.008	CLCN5
response to growth hormone	1	374.5×	0.008	PHEX
odontogenesis	1	175.5×	0.015	PHEX
chloride transport	1	151.8×	0.015	CLCN5
regulation of cell adhesion	1	102.1×	0.019	CBLL2
bone development	1	92.1×	0.019	PHEX
bone mineralization	1	90.6×	0.019	PHEX
protein modification process	1	81.4×	0.020	PHEX
monoatomic ion transmembrane transport	1	69.3×	0.021	CLCN5
lung development	1	66.1×	0.021	PHEX
protein processing	1	56.7×	0.023	PHEX
skeletal system development	1	41.9×	0.029	PHEX
endocytosis	1	31.7×	0.036	CLCN5
cell-cell signaling	1	23.2×	0.047	PHEX
protein ubiquitination	1	13.8×	0.074	CBLL2
proteolysis	1	11.4×	0.085	PHEX

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 4 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PHEX	0	0
CLCN5	0	0
CBLL2	0	0
PTCHD1-AS	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PHEX	3.4.24.B15

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; 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	0
D	Druggable family + AlphaFold only, no drug	1	PHEX
E	Difficult family or no structure, no drug	3	CLCN5, CBLL2, PTCHD1-AS

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
PHEX	0	—
CLCN5	0	—
CBLL2	0	—
PTCHD1-AS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 45.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	19
PHASE3	8
PHASE4	5
PHASE1/PHASE2	5
PHASE2	3
PHASE1	3
EARLY_PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03820518	PHASE4	UNKNOWN	Using Different Doses of Active Vitamin D Combined With Neutral Phosphate in Children With X-linked Hypophosphatemia
NCT04146935	PHASE4	COMPLETED	Examining the Effect of Burosumab on Muscle Function
NCT04419363	PHASE4	UNKNOWN	Burosumab in Children and Adolescents With X-linked Hypophosphatemia
NCT04842019	PHASE4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With XLH
NCT04842032	PHASE4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Pediatric Chinese Patients With XLH
NCT02526160	PHASE3	COMPLETED	Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)
NCT02537431	PHASE3	COMPLETED	Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)
NCT02915705	PHASE3	COMPLETED	Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH
NCT03233126	PHASE3	COMPLETED	A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT03920072	PHASE3	COMPLETED	Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
NCT04308096	PHASE3	COMPLETED	A Study of KRN23 in Adult and Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT04695860	PHASE3	COMPLETED	Anti-FGF23 (Burosumab) in Adult Patients With XLH
NCT04872907	PHASE3	UNKNOWN	Prevention of Spontaneous Dental Abscesses in Children With X-linked Hypophosphatemia : a RCT
NCT06525636	PHASE1/PHASE2	RECRUITING	A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
NCT01340482	PHASE1/PHASE2	COMPLETED	A Repeated Study of KRN23 in Adults With X-Linked Hypophosphatemia
NCT01571596	PHASE1/PHASE2	COMPLETED	An Extension Study of KRN23 in Adults With X-Linked Hypophosphatemia
NCT02163577	PHASE2	COMPLETED	Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
NCT02312687	PHASE2	COMPLETED	Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)
NCT02720770	PHASE1/PHASE2	COMPLETED	Growth Hormone Treatment in Children With Hypophosphatemic Rickets
NCT02750618	PHASE2	COMPLETED	Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)
NCT04188964	PHASE1/PHASE2	COMPLETED	Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
NCT00195936	PHASE1	COMPLETED	Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic Rickets
NCT00830674	PHASE1	COMPLETED	A Study of KRN23 in X-linked Hypophosphatemia
NCT02181764	PHASE1	COMPLETED	A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia
NCT03771105	EARLY_PHASE1	RECRUITING	The Impact of Phosphate Metabolism on Healthy Aging
NCT03748966	EARLY_PHASE1	COMPLETED	Calcitriol Monotherapy for X-Linked Hypophosphatemia
NCT03193476	Not specified	RECRUITING	Registry for Patients With X-Linked Hypophosphatemia
NCT03651505	Not specified	ACTIVE_NOT_RECRUITING	X-linked Hypophosphatemia Disease Monitoring Program
NCT03745521	Not specified	ACTIVE_NOT_RECRUITING	Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners
NCT03775187	Not specified	AVAILABLE	Expanded Access to Burosumab
NCT04946409	Not specified	ACTIVE_NOT_RECRUITING	Burden of Disease and Functional Impairment in XLH
NCT06921720	Not specified	NOT_YET_RECRUITING	Phosphorus-31 Spectroscopy in Phosphate Diabetes
NCT07183579	Not specified	RECRUITING	Effective Dosing of Burosumab in XLH
NCT07607600	Not specified	NOT_YET_RECRUITING	Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia
NCT01652573	Not specified	COMPLETED	Calcitonin for Treating X-linked Hypophosphatemia
NCT03489993	Not specified	COMPLETED	FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)
NCT03596554	Not specified	COMPLETED	X-linked Hypophosphatemia and FGF21
NCT03879915	Not specified	UNKNOWN	Dental Implants in Patients With X-linked Hypophosphatemia
NCT04049877	Not specified	COMPLETED	Retrospective and Prospective Disease Progression and Quality of Life in XLH
NCT04273490	Not specified	COMPLETED	Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BUROSUMAB	4	20
CINACALCET	4	3
CALCITRIOL	4	2
FLUORIDE ION	3	1
TALFIRASTIDE	2	1
FLUORIDE	0	1