Tirzepatide, a new drug for type 2 diabetes mellitus and obesity, as a possible treatment to modify the clinical evolution of Wolfram syndrome type 1

Phase 2

Active, not recruiting

Conditions: Wolfram syndrome type 1

Registration Number: 2024-514909-64-00

Lead Sponsor: Ospedale San Raffaele S.r.l.

Brief Summary: To determine the efficacy of tirzepatide in increasing endogenous insulin production in patients with Wolfram syndrome type 1 (WS1)

Detailed Description: Not available

Recruitment & Eligibility

Status: Ongoing, recruitment ended

Sex: Not specified

Target Recruitment: 10

Inclusion Criteria

A definite diagnosis of Wolfram syndrome, as determined by the following: (a) Documented diabetes mellitus diagnosed under 16 years of age according to WHO or ADA criteria; and (b) Documented functionally relevant recessive mutations on both alleles of the WFS1 gene or dominant mutation on one allele of the WFS1 gene based on historical test results (if available) or from a qualified screening laboratory;

aged 5 years or older;

The patient, the patient's parents or legally authorized guardian(s) must have voluntarily signed an informed consent form approved by the Institutional Review Board/Independent Ethics Committee after all relevant aspects of the study have been explained and discussed with the patient . Guardian consent and patient consent, if applicable, must be obtained;

Women of childbearing age will be included only after a highly sensitive negative urine pregnancy test. If sexually active, they must agree to use a highly effective contraceptive measure;

Patient willing to wear a continuous glucose monitor.

Exclusion Criteria

Clinically significant CNS involvement unrelated to Wolfram that is judged by the investigator likely to interfere with the accurate administration and interpretation of protocol assessments;

Breastfeeding;

Pre-existing eye disease (corneal or lens disease and any other retinal or optic nerve disease not related to Wolfram).

A history of pancreatitis;

Pre-existing thyroid disease;

A personal or family history of medullary thyroid carcinoma;

Multiple endocrine neoplasia type 2 syndrome;

Active liver or kidney disease, personal or family history of liver/renal dysfunction related to known genetic disease;

Treatment with any investigational drug within 30 days prior to study entry;

Ongoing therapy with a GLP-1 agonist or DDP-4 inhibitor or known hypersensitivity to the GLP-1 agonist;

Any other medical, psychiatric, social situation or acute or chronic laboratory outcome that, in the judgment of the investigator, would jeopardize the safety of the patient while participating in the study, cause inability to comply with the protocol, or affect the outcome of the study;

Study & Design

Study Type: Not specified

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The percentage of participants with a positive response to MMTT (C-peptide at 90 min >0.6 ng/ml)		The percentage of participants with a positive response to MMTT (C-peptide at 90 min >0.6 ng/ml)

Secondary Outcome Measures

Name	Time	Method

Trial Locations

Locations (1): Ospedale San Raffaele S.r.l.
🇮🇹
Milan, Italy
Ospedale San Raffaele S.r.l.
🇮🇹Milan, Italy
Lorenzo Piemonti
Site contact
0226432706
piemonti.lorenzo@hsr.it