ORPHA:89937
Autosomal dominant hypophosphatemic rickets
Also known as: ADHR · Autosomal dominant hypophosphatemia
Publications
796
Trials
15
Interventional, condition-specific
Researchers
1,002
Distinct authors in sample
Gene link
FGF23
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008660
- MeSH:C562791
- OMIM:193100
- UMLS:C0342642
Additional Mondo synonyms (5)
autosomal dominant hereditary hypophosphatemic rickets · autosomal dominant hypophosphatemia · autosomal dominant hypophosphatemic rickets · hereditary hypophosphatemic rickets, autosomal dominant · hypophosphatemic rickets, autosomal dominant
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — FGF23
- LiteraturePresent
796 matched papers (390 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
15 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (FGF23).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
796
796 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
796 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
390 in the last 10 years · low confidence
Phrase hits: 796 · MeSH hits: 0
Who's working on it?
1,002
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Imel EA9 papers · 2026
Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 02Fukumoto S7 papers · 2025
Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan.
Papers in Europe PMC - 03Brandi ML4 papers · 2025
b Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy. m.brandi@dmi.unifi.it.
Papers in Europe PMC - 04Florenzano P4 papers · 2025
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 05Ito N4 papers · 2025
Osteoporosis Center, The University of Tokyo Hospital, Tokyo 113-8655, Japan.
Papers in Europe PMC - 06Kumar R4 papers · 2023
Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, 200 1st Street SW, MN, 55905, Rochester, USA. rkumar@mayo.edu.
Papers in Europe PMC - 07Xia W4 papers · 2024
Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China. xiaweibo8301@163.com.
Papers in Europe PMC - 08Carpenter TO3 papers · 2025
Departments of Pediatrics (Endocrinology), and Orthopedics and Rehabilitation, Yale University School of Medicine, New Haven, CT 06520, USA.
Papers in Europe PMC - 09Chen X3 papers · 2024
Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University.
Papers in Europe PMC - 10Collins MT3 papers · 2025
Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institutes of Health , Bethesda, MD, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
15
interventional trials for this specific condition
15 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 19 trials are registered for hypophosphatemic rickets, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
15 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.5th percentile).
low confidence · 93.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
15 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07676526·NOT YET RECRUITING·Association Between Chronic Kidney Disease Stage and Circulating FGF23 Cleavage Intensity in Patients With Chronic Kidney Disease
Conditions: CKD - Chronic Kidney Disease·Matched via recall expansion
Broader category: hypophosphatemic rickets
19
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06462547·RECRUITING·ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
Conditions: Gene Mutations · Pseudoxanthoma Elasticum · Arterial Calcification · Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency·Matched via name phrase
- NCT05734196·RECRUITING·The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency · Autosomal Recessive Hypophosphatemic Rickets · Generalized Arterial Calcification of Infancy · ATP-Binding Cassette Subfamily C Member 6 Deficiency·Matched via name phrase
- NCT07473973·RECRUITING·ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency
Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency · Autosomal Recessive Hypophosphatemic Rickets · Generalized Arterial Calcification of Infancy 1·Matched via name phrase
Observational and natural-history studies
12 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05356325·RECRUITING·FGF23 and Cardiovascular Damage in Anemia With an Without Chronic Kidney Disease.
Conditions: Fibroblast Growth Factor 23 · Anemia · CKD·Matched via recall expansion
- NCT07453290·NOT YET RECRUITING·Dysregulation of the Soluble α-Klotho-FGF23 Axis in Hashimoto's Thyroiditis: A Case-Control Study
Conditions: Autoimmune Thyroiditis·Matched via recall expansion
- NCT06202027·RECRUITING·Post Marketing Surveillance Study to Observe Safety and Effectiveness of CRYSVITA® in S. Korean Patients
Conditions: FGF23-related Hypophosphataemic Rickets and Osteomalacia·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Hypophosphatemic rickets as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Autosomal dominant hypophosphatemic rickets" OR "Autosomal dominant hypophosphatemia" OR "autosomal dominant hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, autosomal dominant" OR "hypophosphatemic rickets, autosomal dominant"
MeSH descriptor terms unioned into the query: Hypophosphatemic Rickets, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant hypophosphatemic rickets" OR "Autosomal dominant hypophosphatemia" OR "autosomal dominant hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, autosomal dominant" OR "hypophosphatemic rickets, autosomal dominant" OR "FGF23"
Recall-expansion terms: FGF23
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 15 interventional · 12 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypophosphatemic rickets"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ADHR
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (796) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:28:15.283Z