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RecruitingNCT00024804Updated Oct 26, 2026

A Natural History Study of Bone and Mineral Disorders

An observational study in Tumor Induced Osteomalcia, Osteomalacia and Familial Tumoral Calcinosis, sponsored by National Institute of Dental and Craniofacial Research (NIDCR). Recruiting at 1 site in United States. Open to participants aged 1 Day to 100 Years. Per ClinicalTrials.gov, last updated 2026-10-26.

Sponsored by National Institute of Dental and Craniofacial Research (NIDCR) · Observational

From the registry’s dates

  • Started Nov 2001; still recruiting 24 years 11 months later.
Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
1,000
Ages
1 Day to 100 Years
Sex
All
01

Study summary

This study has four objectives: 1) to provide investigators the opportunity to study bone specimens from patients with various skeletal diseases; 2) to treat patients with skeletal diseases at the NIH; 3) to expose NIH trainees to certain skeletal diseases; and 4) to gain more knowledge about skeletal diseases and stimulate further study of bone biology.

Anyone with a disease that affects the skeleton may be eligible for this study.

All evaluations, tests, procedures and treatments given study participants are used in the standard care of skeletal diseases. No experimental evaluations or treatments are offered. Patient evaluations include a medical history, review of medical records and routine physical examination. Based on the findings, other procedures may be recommended, including blood tests, urine tests, and imaging tests, such as X-rays, bone densitometry, bone scan, computed tomography (CT) and magnetic resonance imaging (MRI).

Bone specimens from participants will be collected for research use. Specimens will be obtained from bone removed during a patient s planned surgical procedure performed for medical care, or patients may be requested to have a bone biopsy removal of a small piece of bone tissue as part of the patient evaluation procedure.

Read the detailed description

Study Description:

To evaluate participants with bone and mineral disorders at the NIH Clinical Center and obtain tissue and clinical specimens from outside institutions

Objectives:

Primary Objective:

Provide a protocol within which participants with common and rare disorders of bone and mineral metabolism can be studied, evaluated and treated at NIH.

Secondary Objectives:

To obtain tissue and clinical specimens (including but not limited to blood, urine, nucleic acids, skin and bone) and data collected at outside institutions and the NIH Clinical Center from participants with various bone and mineral disorders.

Tertiary/Exploratory Objective:

Generate a pool of participants with bone and mineral disorders, from which research questions could arise and future clinical research studies may be generated.

Endpoints:

Primary Endpoint:

Medical evaluation with clinical assessments performed at time points specific to each participant s diagnosis. Analysis of research and participant outcome data will be performed.

Secondary Endpoint:

Genetic and/or biochemical assessments of surgical waste material from the NIH Clinical Center or other medical facilities.

Tertiary/Exploratory Endpoint:

Development of a database containing information from enrolled participants with bone and mineral disorders and annotated specimens and data.

02

Conditions studied

  • Tumor Induced Osteomalcia
  • Osteomalacia
  • Familial Tumoral Calcinosis

Keywords

  • Natural History
  • skeletal diseases
  • Osteoporosis
  • Dysplasia
  • Osteomalacia
  • Bone Diseases
  • Skeletal Disease
03

In context

Osteomalacia

34 studies on the registry are indexed under Osteomalacia; 3 are open to participants now.

This study's planned enrollment of 1,000 is above the median of 65 across 14 observational studies indexed under Osteomalacia.

Browse Osteomalacia studies →

Lead sponsor

National Institute of Dental and Craniofacial Research (NIDCR) is the lead sponsor of 94 studies on the registry; 9 are open to participants now.

Of its 8 completed or terminated interventional studies of FDA-regulated products, 5 (63%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
1 Day to 100 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Subjects with known or suspected bone disease and disorder of mineral metabolism.

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

The study population will include participants with known or suspected bone disease and/or with a known or suspected disorder of mineral metabolism. To be eligible to participate in this study, an individual must meet all of the following criteria:

  1. Age 1 day of life or older
  2. Have a known or suspected bone disease, as demonstrated by any one of the following: a fracture, or abnormal bone findings on x-ray, CT scan, MRI, or bone densitometry, and/or a medical or family history consistent with or suggestive of a bone disease.
  3. Have a known or suspected disorder of mineral metabolism, as demonstrated by any one of the following: laboratory measurement above or below the reference values for either blood or urine calcium, phosphorus, magnesium, parathyroid hormone or vitamin D, or other measures of mineral metabolism, and/or a medical or family history consistent with or suggestive of a disorder of mineral metabolism.

Exclusion criteria

EXCLUSION CRITERIA:

1. Participants unwilling or unable to abide by the procedures of the protocol.

05

Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
1,000 participants (estimated)

Groups and cohorts

  • 1

    Subjects with known or suspected bone disease and disorder of mineral metabolism.

06

What researchers measure

Primary outcomes

  1. Collection of clinical and research specimens

    Specimens will be collected for creating better understanding of the disorders seen and for generating future research studies.

    Time frame: 10 years

07

Study locations

1 of 1 sites recruiting
  • National Institutes of Health Clinical Center
    Bethesda, Maryland 20892, United States
    Recruiting
    • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) · Contactccopr@nih.gov · 800-411-1222
08

References and documents

Publications

  • Theng EH, Brewer CC, Oheim R, Zalewski CK, King KA, Delsmann MM, Rolvien T, Gafni RI, Braddock DT, Jeffrey Kim H, Ferreira CR. Characterization of hearing-impairment in Generalized Arterial Calcification of Infancy (GACI). Orphanet J Rare Dis. 2022 Jul 19;17(1):273. doi: 10.1186/s13023-022-02410-w. PubMed 35854274 ↗

Individual participant data

Plan to share: No — As this study enrolls participants with a myriad of disorders and research specimens are not collected in a systematic manner, sharing of IPD is not meaningful.

09

Timeline

7 registry updates since Sep 25, 2026

Started Nov 2001 (actual).

How these figures are worked out, and which studies are left out of them.

Registered
Sep 28, 2001
First posted
Oct 1, 2001
StartActual
Nov 19, 2001
Last update
Oct 26, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Minor edits
Nothing that changes what the study is or who can join. Edited: description and verification date
7 updates, last Oct 26, 2026
Show all 7 updates
  1. Oct 26, 2026
    Minor edits only
    + 1 other change: description
  2. Oct 21, 2026
    Minor edits only
    + 1 other change: verification date
  3. Oct 13, 2026
    Minor edits only
    + 1 other change: description
  4. Oct 8, 2026
    Minor edits only
    + 1 other change: description
  5. Oct 6, 2026
    Minor edits only
    + 1 other change: verification date
  6. Oct 2, 2026
    Minor edits only
    + 1 other change: description
  7. Sep 28, 2026
    Minor edits only
    + 1 other change: description

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

10

Registry details

Key details

Study ID
NCT00024804
Responsible party
Sponsor
First posted
Oct 1, 2001
Start date
Nov 19, 2001
Last update
Oct 26, 2026

Study contacts

Elizabeth A Ferguson
Contact
elizabeth.ferguson@nih.gov
(240) 687-3029
Kelly B Roszko, M.D.
Contact
kelly.roszko@nih.gov
(301) 496-4563
Kelly B Roszko, M.D.
principal investigator · National Institute of Dental and Craniofacial Research (NIDCR)

Oversight

FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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