Clinical trial NCT05793853: Hypoparathyroidism Natural History
Official title: Advancing Product Development for Hypoparathyroidism: A Prospective Natural History Study of the Clinical Outcomes and Regulation of Disordered Mineral Metabolism
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hypoparathyroidism
Lead sponsor: Columbia University
Sponsor class: OTHER
First posted: 2023-03-31
Enrollment: 94
Sex: ALL
Minimum age (years): 18
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Male or female ≥18 years of age with all hypoparathyroidism sub-types. Healthy male and female controls.

Brief summary: This is a prospective three year natural history study of adults with hypoparathyroidism. The goal is to monitor patients with hypoparathyroidism to define end-organ damage in the context of the disease.

Funding Source- FDA OOPD

Detailed description: The goal of this study is to prospectively collect data on the natural history of hypoparathyroidism (HPT). This will enable longitudinal data collection of complications in this disease, specifically defining the epidemiology of end-organ complications of HPT that are related to high calcification propensity. It will also determine relationships between calcification burden and end-organ disease severity and progression risk and assess the utility of traditional and novel biomarkers of mineral and bone metabolism on disease diagnosis and monitoring. These data will inform future investigations on the development, study, and implementation of HPT end-organ disease modifying strategies and impact clinical practice in hypoparathyroidism.The study objectives are to:

1. Build a prospective cohort of patients to study HPT-associated end-organ damage.
2. Determine end-organ physiologic consequences of HPT.
3. Elucidate determinants of HPT-associated end-organ damage.

Eligibility criteria: Inclusion Criteria:

* An understanding, ability and willingness to fully comply with study procedures and restrictions.
* Ability to voluntarily provide written, signed and dated informed consent as applicable to participate in the study.
* Male or female ≥18 years of age with HPT. All HPT sub-types are eligible, including surgical (HPT-S) and nonsurgical (HPT-NS) HPT: autoimmune, genetic (including but not limited to: DiGeorge syndrome, autoimmune polyendocrine syndrome type 1, hypoparathyroidism sensorineural deafness and renal disease syndrome, Kearns-Sayre syndrome, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes \[MELAS\] syndrome, mitochondrial trifunctional protein \[MTP\] deficiency syndrome, Kenny-Caffey syndrome, Sanjad-Sakati syndrome, autosomal dominant hypocalcemia), infiltrative (granulomatous), mineral deposition (copper, iron), metastatic, radiation and idiopathic HPT.
* Diagnosis of HPT established based on historic hypocalcemia in the setting of inappropriately low serum PTH levels on two occasions.
* All treatment regimens are permitted, including but not limited to conventional management with calcium (e.g. calcium citrate, calcium carbonate, etc), active vitamin D (calcitriol, alfacalcidol), parent vitamin D, magnesium, phosphate binders and thiazides. Use of PTH-like drugs are permitted.

Exclusion Criteria:

* Functional HPT
* Transient HPT
* Pseudohypoparathyroidism
* Pregnancy

Primary outcomes:
measure: Kidney function
timeFrame: baseline, 6, 12, 18, 24, 30, 36 Months
Secondary outcomes:
measure: Kidney calcification
timeFrame: Baseline and 36 Months
measure: Brain calcification
timeFrame: Baseline and 36 Months
measure: Vascular calcification
timeFrame: Baseline and 36 Months
measure: Bone mineral density
timeFrame: Baseline and 36 Months
measure: Bone microarchitecture and bone strength
timeFrame: Baseline and 36 Months
measure: Cardiac function
timeFrame: Baseline and 36 Months
measure: Transcriptomic signaling for calcification
timeFrame: Baseline and 36 Months
measure: Biomarkers blood
timeFrame: baseline, 6, 12, 18, 24, 30, 36 Months
measure: Biomarkers urine
timeFrame: baseline, 6, 12, 18, 24, 30, 36 Months
measure: Dietary Intake
timeFrame: baseline, 12, 24 and 36 Months
measure: Cognitive Function
timeFrame: baseline, 12, 24 and 36 Months
measure: Neurologic Tests of Motor Function
timeFrame: baseline, 12, 24 and 36 Months
measure: Quality of Life Through Self-Reported Questionnaires
timeFrame: baseline, 12, 24 and 36 Months
measure: Calcioprotein Maturation Time
timeFrame: Baseline and 36 months
measure: Sclerostin
timeFrame: Baseline and 36 months
measure: FGF23
timeFrame: Baseline and 36 months
Other outcomes:
Locations:
city: New York
country: United States
facility: Columbia University Medical Center - Harkness Pavillion
state: New York
Study officials:
affiliation: Columbia University
name: Mishaela Rubin, MD
role: PRINCIPAL_INVESTIGATOR
References: