A Natural History Study of Bone and Mineral Disorders

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.

Study Overview

• Status: Recruiting
• Conditions: Osteomalacia; Tumor Induced Osteomalcia; Familial Tumoral Calcinosis

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.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Rachel I Gafni, M.D.; Phone Number: (301) 594-9924; Email: gafnir@mail.nih.gov
• Study Contact Backup: Name: Karen A Pozo, R.N.; Phone Number: (301) 827-1138; Email: karen.pozo@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY dial 711 800-411-1222; Email: ccopr@nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 day and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

• 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:

1. Subjects unwilling or unable to abide by procedures of protocol.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
1; Subjects with known or suspected bone disease and disorder of mineral metabolism.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: National Institute of Dental and Craniofacial Research (NIDCR)
• Investigators: Principal Investigator: Rachel I Gafni, M.D., National Institute of Dental and Craniofacial Research (NIDCR)

Publications and helpful links

General 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.

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): November 19, 2001

Study Registration Dates

• First Submitted: September 28, 2001
• First Submitted That Met QC Criteria: September 28, 2001
• First Posted (Estimated): October 1, 2001

Study Record Updates

• Last Update Posted (Actual): March 21, 2024
• Last Update Submitted That Met QC Criteria: March 20, 2024
• Last Verified: January 26, 2024

More Information

Terms related to this study

• Keywords: Natural History; Osteoporosis; Bone Diseases; Dysplasia; Osteomalacia; skeletal diseases; Skeletal Disease
• Additional Relevant MeSH Terms: Metabolic Diseases; Nutrition Disorders; Musculoskeletal Diseases; Avitaminosis; Deficiency Diseases; Malnutrition; Bone Diseases; Bone Diseases, Metabolic; Calcium Metabolism Disorders; Rickets; Vitamin D Deficiency; Calcinosis; Osteomalacia
• Other Study ID Numbers: 010184; 01-D-0184

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: .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.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No