Studies of Inherited Diseases of Metabolism
Launched by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES (NIDDK) · Nov 3, 1999
Trial Information
Current as of June 12, 2025
Completed
Keywords
ClinConnect Summary
Familial multiple endocrine neoplasia type 1 (MEN1), familial hypocalciuric (or familial benign) hypercalcemia (FHH), hyperparathyroidism - jaw tumor syndrome (HPT-JT), other causes of familial isolated hyperparathyroidism (FIHP), and pseudohypoparathyroidism (PHP) are disorders of metabolism that are generally inherited in an autosomal dominant fashion. MEN1 is characterized by overgrowth and hyperfunction of the parathyroids, anterior pituitary and gastrointestinal endocrine tissue. MEN1, p15, p18, p21, and p27 are identified genes for MEN1- like states. FHH is characterized by a usually ...
Gender
ALL
Eligibility criteria
- * ELIGIBILITY CRITERIA:
- • 1. Patient has possible form of familial hyperparathyroidism. Or case is a clinically unaffected first degree relative of such a patient.
- • 2. The lower age limit to enter a clinically affected minor into the study is \>= 4 years old. However, asymptomatic and possibly unaffected cases will not be enrolled, and blood will not be drawn, before age 5 years in MEN1, MEN1-like, HPT-JT, or FIHP kindreds or before age 10 in FHH kindreds.
About National Institute Of Diabetes And Digestive And Kidney Diseases (Niddk)
The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) is a prominent research institution within the National Institutes of Health (NIH) dedicated to advancing scientific knowledge and promoting health in the areas of diabetes, endocrine and metabolic disorders, obesity, digestive diseases, and kidney diseases. Through rigorous clinical trials and innovative research initiatives, NIDDK aims to improve prevention, diagnosis, and treatment strategies, ultimately enhancing patient outcomes and quality of life. The institute fosters collaboration among researchers, healthcare professionals, and community stakeholders to drive impactful discoveries and translate findings into effective healthcare solutions.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Bethesda, Maryland, United States
Patients applied
Trial Officials
Smita Jha, M.D.
Principal Investigator
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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