CompletedNot Applicable

A Study Measuring Substances Potentially Indicating Bone Problems in Adults With Type 1 Gaucher Condition

Spain125 participantsStarted 2023-03-27

Plain-language summary

Substances in the body, so-called biomarkers, can help predict the severity of Gaucher disease (GD)-related bone problems in adults. The main aim of the study is to determine if certain biomarkers found in the body at the time of diagnosing GD can help predict the risk of bone problems after 4-5 years. There is no treatment involved in this study. The study will review previously collected participants' data using a database. Data from both adults with type 1 Gaucher condition as well as healthy adults will be compared.

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

For Participants with GD1: Inclusion Criteria * Participants with confirmed diagnosis of GD1. * Determination of Glucocerebrosidase (GCase) blood activity at diagnosis of GD1. * DNA analysis result demonstrating pathogenic variants in the Glucocerebrosidase gene (GBA1) gene. * Available data of clinical state at diagnosis and at 4-5 years from diagnosis, including S-MRI, Dual energy x-ray absorptiometry (DXA), and GD1 severity scoring system (GD1-DS3) indexes (or data to calculate it). Exclusion Criteria • Evidence of hepatitis B, hepatitis C infection or other chronic infectious diseases. For Healthy Volunteers Exclusion Criteria * Evidence of hepatitis B, hepatitis C infection or other chronic infectious diseases. * Evidence of bone disease.

What they're measuring

Change in Biomarker Level in Participants with GD1 at 4-5 years From Diagnosis Assessed per Spanish-Magnetic Resonance Imaging (S-MRI)

Timeframe: Baseline up to approximately 4-5 years

Trial details

NCT IDNCT05702814

SponsorTakeda

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2024-05-20