ORPHA:417
Neonatal severe primary hyperparathyroidism
Also known as: NSHPT
Publications
8,460
Trials
0
Interventional, condition-specific
Researchers
955
Distinct authors in sample
Gene link
CASR
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
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:0009397
- MeSH:C563375
- OMIM:239200
- UMLS:C1832615
- NCIT:C131853
Additional Mondo synonyms (1)
hyperparathyroidism, neonatal
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CASR
- LiteraturePresent
8,460 matched papers (5,809 in last 10 years) Source
- Phenotype characterisedPresent
34 HPO annotations (e.g. Aminoaciduria; Hyperphosphaturia; Narrow chest) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 56 for broader category primary hyperparathyroidism
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 (CASR).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
34
Associated phenotypes · MONDO:0009397
- Aminoaciduria
- Hyperphosphaturia
- Narrow chest
- Constipation
- Metaphyseal irregularity
Showing 5 of 34 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
8,460
8,460 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
8,460 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
5,809 in the last 10 years · low confidence
Phrase hits: 417 · MeSH hits: 0
Who's working on it?
955
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Thakker RV15 papers · 2024
Academic Endocrine UnitRadcliffe Department of Medicine, University of Oxford, Oxford, UK rajesh.thakker@ndm.ox.ac.uk.
Papers in Europe PMC - 02Hannan FM11 papers · 2022
Academic Endocrine UnitRadcliffe Department of Medicine, University of Oxford, Oxford, UK Department of Musculoskeletal BiologyInstitute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.
Papers in Europe PMC - 03Levine MA7 papers · 2020
Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, and the University of Pennsylvania Perelman School of Medicine. Electronic address: levinem@chop.edu.
Papers in Europe PMC - 04Marx SJ7 papers · 2020
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA.
Papers in Europe PMC - 05Brandi ML6 papers · 2025
Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy. marialuisa.brandi@unifi.it.
Papers in Europe PMC - 06Brown EM4 papers · 2016
Center for Diagnostics and Therapeutics, Georgia State UniversityAtlanta, GA, USA; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's HospitalBoston, MA, USA.
Papers in Europe PMC - 07Gorvin CM4 papers · 2022
Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 08Palermo A4 papers · 2023
Unit of Endocrinology and Diabetes, University Campus Bio-Medico, Rome, Italy.
Papers in Europe PMC - 09Simonds WF4 papers · 2022
National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Papers in Europe PMC - 10Al-Ashwal A3 papers · 2024
Diabetes and Endocrinology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 56 trials are registered for primary hyperparathyroidism, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
56 interventional trials matched primary hyperparathyroidism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: primary hyperparathyroidism
56
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
- NCT06859580·RECRUITING·Bisphosphonate Prior to Parathyroidectomy in Primary Hyperparathyroidism
Conditions: Primary Hyperparathyroidism·Matched via name phrase
- NCT07138820·RECRUITING·18F-choline Positron-emission-tomography - Computed-tomography Compared to Conventional Imaging for Localizing Diseased Parathyroid Glands in Primary Hyperparathyroidism
Conditions: Primary Hyperparathyroidism·Matched via name phrase
- NCT06230380·RECRUITING·Autofluorescence in Surgery for Primary Hyperparathyroidism
Conditions: Hyperparathyroidism, Primary·Matched via name phrase
- NCT07812649·RECRUITING·NIRAF-camera Versus Conventional Surgery in Preoperative Imaging Negative Primary Hyperparathyroidism
Conditions: Primary Hyperparathyroidism·Matched via name phrase
- NCT07444723·RECRUITING·Accuracy of 18F-Fluorocholine PET/MR and NeuroEXPLORER PET/CT Imaging for Localization of Parathyroid Tumors
Conditions: Primary Hyperparathyroidism · Parathyroid Cancer · Multiple Endocrine Neoplasias · Heritable Hyperparathyroidism·Matched via name phrase
- NCT03935984·RECRUITING·Calcitonin Pre-treatment to Improve SPECT-CT Sensitivity
Conditions: Primary Hyperparathyroidism · Hypercalcemia·Matched via name phrase
- NCT06562881·RECRUITING·Patient Navigation to Improve Surgical Access in Primary Hyperparathyroidism
Conditions: Hyperparathyroidism, Primary·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 63 · after dedupe 62 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 62 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (62)
- isrctn·ISRCTN70595832·No longer recruiting·Vitamin D and lifestyle Intervention for gestational diabetes mellitus (GDM) prevention
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN65689096·No longer recruiting·Comparison of two techniques for collecting umbilical cord blood: on the mother (upper level) versus on the delivery table (bottom level)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN82927713·No longer recruiting·Maternal vItamin D osteoporosis study
skipped — LLM skipped (--skip-llm)
- ctis·2025-523837-25-00·Authorised·4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524576-28-00·Authorised·Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525682-45-00·Authorised·Efficacy of oral bicarbonate versus placebo on the risk of assisted delivery in nulliparous women with prolonged labour (ProLabour): protocol fora randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2026-525747-33-00·Authorised·Progesterone Luteal Support in Unexplained Infertility Management (PLUIM study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514190-21-00·Authorised, ongoing·Long-term Follow-up (LTFU) Study of Participants in any iECURE Protocol Using an Investigational Product
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523109-14-00·Authorised·A prospective, open-label, non-randomized, multicentre trial to assess the safety and PD of Cangrelor as procedural platelet inhibitor in paediatric subjects from birth to <18 years of age undergoing diagnostic and/or therapeutic percutaneous vascular procedures for management of congenital heart disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522434-32-00·Authorised, recruiting·A MULTICENTER, RANDOMIZED, OPEN-LABEL, PHASE III CLINICAL TRIAL TO EVALUATE THE EFFICACY, SAFETY, PHARMACOKINETICS AND PHARMACODYNAMICS OF NXT007 PROPHYLAXIS VERSUS FACTOR VIII PROPHYLAXIS IN PEOPLE WITH HEMOPHILIA A WITHOUT INHIBITORS
skipped — LLM skipped (--skip-llm)
- ctis·2024-518043-38-00·11·MOOD - MethOxyflurane analgesia in vasoOcclusive crises of sickle cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524423-50-00·Authorised·An open-label, single-arm, phase 1/2 first-in-human study to assess the safety and efficacy of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (SGX-001) in paediatric and adult patients with chronic granulomatous disease caused by p47phox deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523400-72-00·Authorised·A Phase 2, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of VX‑828/Deutivacaftor With and Without Tezacaftor in Subjects Aged 18 Years and Older With Cystic Fibrosis
skipped — LLM skipped (--skip-llm)
- ctis·2026-525770-19-00·Authorised, ongoing·Optimising the protocol of labour induction using misoprostol – randomised open-label clinical trial (OPTIMISO)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524995-53-00·Authorised·Reproductive outcomes with letrozole co-treatment during ovarian stimulation in women with endometriosis undergoing IVF/ICSI: a randomised, multicentre, parallel group pragmatic trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524646-94-00·Authorised·Optimizing Aspirin Use for Preeclampsia Prevention
skipped — LLM skipped (--skip-llm)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-523811-12-00·Authorised·A Multicenter, Randomized, Operationally Seamless Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 versus Vosoritide in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-520842-31-00·Authorised·ANTIPROM - Comparison of two prophylactic antibiotic regimens in case of preterm prelabor rupture of membranes before 34 weeks of gestation: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523738-21-00·Authorised·Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants with Fragile X Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523793-16-00·Authorised, recruiting·A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study of the Efficacy and Safety of Vamifeport in Adult Subjects with HFE-related Hereditary Hemochromatosis (FERROCLEAR Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Neonatal severe primary hyperparathyroidism — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
("Neonatal severe primary hyperparathyroidism" OR "NSHPT" OR "hyperparathyroidism, neonatal") OR ("CASR" OR "CASR syndrome" OR "CASR-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal severe primary hyperparathyroidism" OR "NSHPT" OR "hyperparathyroidism, neonatal"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"primary hyperparathyroidism"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (8460) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T13:47:29.990Z