The Impact of Precision Isotretinoin Treatment on rates of Keratinising Desquamative Squamous Metaplasia of the Urinary tract in Adults with a verified pathogenic variant in the RARG gene.

Status

Not yet recruiting

Phases

Unknown

Study type

Interventional

Source

ANZCTR

Registry ID

ACTRN12626000643370

Enrollment

Registered

2026-05-27

Start date

2026-06-05

Completion date

2027-05-01

Last updated

2026-06-01

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

Conditions

None listed

Brief summary

This is an efficacy determining trial that is unblinded. It aims to treat a rare disorder of the urinary tract called KDSM. The trial is limited to members of a specific family that have a specific mutation in the RARG gene. We aim to treat these people with isotretinoin that is predicted to restore some activity to the mutant receptors.

Interventions

Treatment with oral tablet of isotretinoin (starting at 5mg and rising to a maximum of 40mg per day at intervals determined by clinican discretion) over 6-12 months. Doses will be no greater than 0.5mg/kg for any participant. The drug will continue to be escalated monthly up to 6 months unless side effects limit dosing. Participants will self report compliance by the use of a diary and cross checking this with depletion of the supply of the drug.

Study design

Allocation

Non-randomised trial

Intervention model

Single group

Primary purpose

Treatment

Masking

Open (masking not used)

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

Heterozygous for verified pathogenic variant in the RARG gene as determined by genomic sequencing. The pathogenic variant is p.Arg412*. Not pregnant Not on tetracyclines

Exclusion criteria

Hepatic impairment Pancreatitis Pregnancy

Outcome results