NCT00024804

Brief 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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,000

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 28, 2001

Completed
3 days until next milestone

First Posted

Study publicly available on registry

October 1, 2001

Completed
2 months until next milestone

Study Start

First participant enrolled

November 19, 2001

Completed
Last Updated

May 5, 2026

Status Verified

December 4, 2025

First QC Date

September 28, 2001

Last Update Submit

May 2, 2026

Conditions

Familial Tumoral CalcinosisTumor Induced OsteomalciaOsteomalacia

Keywords

Natural Historyskeletal diseasesOsteoporosisDysplasiaOsteomalaciaBone DiseasesSkeletal Disease

Outcome Measures

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.

    10 years

Study Arms (1)

1

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

Eligibility Criteria

Age1 Day - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

  • 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:
  • Age 1 day of life or older
  • 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.
  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (1)

  • 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.

    PMID: 35854274DERIVED

Related Links

MeSH Terms

Conditions

OsteomalaciaOsteoporosisBone Diseases

Condition Hierarchy (Ancestors)

RicketsBone Diseases, MetabolicMusculoskeletal DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesCalcium Metabolism DisordersVitamin D DeficiencyAvitaminosisDeficiency DiseasesMalnutritionNutrition Disorders

Study Officials

  • Kelly B Roszko, M.D.

    National Institute of Dental and Craniofacial Research (NIDCR)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth A Ferguson

CONTACT

(240) 687-3029elizabeth.ferguson@nih.gov

Kelly B Roszko, M.D.

CONTACT

(301) 496-4563kelly.roszko@nih.gov

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 28, 2001

First Posted

October 1, 2001

Study Start

November 19, 2001

Last Updated

May 5, 2026

Record last verified: 2025-12-04

Data Sharing

IPD Sharing
Will not share

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.

Locations

US(1)