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Hereditary hypophosphatemic rickets: Our experience

Genotype-phenotype correlation in hypophosphatemic rickets: single center experience from western India.

Status
Active, not recruiting
Phases
Unknown
Study type
Interventional
Source
CTRI
Registry ID
CTRI/2021/11/038036
Enrollment
100
Registered
2021-11-15
Start date
Unknown
Completion date
Unknown
Last updated
2022-02-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: E889- Metabolic disorder, unspecified Health Condition 2: E889- Metabolic disorder, unspecified

Interventions

Intervention1: Clinical exome sequencing: Patients will be tested for mutations and deletions in hereditary hypophosphatemic rickets susceptibility genes by genetic panel testing based on Next Generat

Sponsors

Department of endocrinology
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: Patients with clinical diagnosis of Hypophosphatemic rickets .(Patients with rickets/osteomalacia with persistently low levels of phosphorus, normal calcium, normal/mildly elevated PTH, elevated levels of ALP and/or elevated FGF23 and/or ratio of tubular maximum reabsorption rate of phosphate to glomerular filtration rate.)

Exclusion criteria

Exclusion criteria: •Those patients with hypophosphatemia with inadequate clinical and biochemical information will be excluded from the study. •No consent for prospective study group

Design outcomes

Primary

MeasureTime frame
Prospectively study genetics by next generation sequencing (NGS) in hypophosphatemic rickets.Timepoint: 2 years—

Secondary

MeasureTime frame
â?¢Genotype and phenotype correlation of hereditary hypophosphatemic ricketsTimepoint: 2 years—

Countries

India

Contacts

Public ContactDr Manjunath Havalappa Dodamani

Seth G. S. medical college and KEM hospital

drtusharb@gmail.com9820025037

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026