ORPHA:436
Hypophosphatasia
Also known as: HPP · Phosphoethanolaminuria · Rathbun disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,642
Trials
20
Interventional, condition-specific
Researchers
961
Distinct authors in sample
Gene link
ALPL
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018570
- MeSH:D007014
- UMLS:C0020630
- NCIT:C26798
Additional Mondo synonyms (3)
Rathburn disease · deficiency of alkaline phosphatase (disorder) [ambiguous] · phosphoethanolaminuria
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
Definitive — ALPL
- LiteraturePresent
3,642 matched papers (2,044 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
20 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 (ALPL).
GenCC classification: Definitive.
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?
3,642
3,642 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.
3,642 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).
2,044 in the last 10 years · low confidence
Phrase hits: 3,642 · MeSH hits: 0
Who's working on it?
961
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.
- 01Brandi ML7 papers · 2026
F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy.
Papers in Europe PMC - 02Ozono K7 papers · 2026
Department of Pediatrics, Graduate School of Medicine, The University of Osaka, Osaka, Japan. keioz@ped.med.osaka-u.ac.jp.
Papers in Europe PMC - 03Seefried L7 papers · 2026
Osteology and Clinical Trial Unit, König-Ludwig-Haus, University of Würzburg, Würzburg, Germany. lothar.seefried@uni-wuerzburg.de.
Papers in Europe PMC - 04Dahir KM6 papers · 2026
Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Papers in Europe PMC - 05
- 06
- 07
- 08Kishnani PS5 papers · 2026
Duke University Hospital, Durham, North Carolina, USA priya.kishnani@duke.edu.
Papers in Europe PMC - 09Foster BL4 papers · 2026
Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH 43210, United States.
Papers in Europe PMC - 10Martos-Moreno GÁ4 papers · 2026
Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
20
interventional trials for this specific condition
20 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
20 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.5th percentile).
low confidence · 94.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
20 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07179640·RECRUITING·A Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ALE1 in Healthy Adults and Adults With Hypophosphatasia in Order to Identify Suitable Doses of ALE1
Conditions: Hypophosphatasia (HPP)·Matched via name phrase
Observational and natural-history studies
23 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
- NCT07390240·RECRUITING·The Effect of Monoallelic Variants in the ALPL Gene on the Natural Course of Hypophosphatasia in Russia
Conditions: Hypophosphatasia·Matched via name phrase
- NCT05596539·RECRUITING·Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO)
Conditions: Hypophosphatasia·Matched via name phrase
- NCT06574282·RECRUITING·Characteristics of Hypophosphatasia in Adult Patients in Rheumatology and Their Value in Developing an Algorithm to HPP-diagnosis - the COHIR Multi-center Study
Conditions: Hypophosphatasia·Matched via name phrase
- NCT05234567·RECRUITING·A Prospective Sub-Study of the Global Hypophosphatasia Registry
Conditions: Hypophosphatasia·Matched via name phrase
- NCT02237625·RECRUITING·Natural History Study of Patients With Hypophosphatasia (HPP)
Conditions: Hypophosphatasia·Matched via name phrase
- NCT02306720·ENROLLING BY INVITATION·Registry of Patients With Hypophosphatasia
Conditions: Hypophosphatasia (HPP)·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 2026-07-26Directly listed under NPRD Group 3.
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.
"Hypophosphatasia" OR "Phosphoethanolaminuria" OR "Rathbun disease" OR "Rathburn disease" OR "deficiency of alkaline phosphatase (disorder) [ambiguous]" OR "deficiency of the alkaline phosphatase (disorder) [ambiguous]"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypophosphatasia" OR "Phosphoethanolaminuria" OR "Rathbun disease" OR "Rathburn disease" OR "deficiency of alkaline phosphatase (disorder) [ambiguous]" OR "deficiency of the alkaline phosphatase (disorder) [ambiguous]" OR "ALPL"
Recall-expansion terms: ALPL
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 20 interventional · 23 observational · 1 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HPP
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:50:09.481Z