Prospective Pilot Trial to Address Feasibility and Safety of Oral Zinc in GNAO1 Associated Disorders (ZINCGNAO1)

Children's University Hospital Cologne, Germany

Status and phase

Enrolling

Phase 2

Conditions

Neurodevelopmental Disorder With Involuntary Movements

Development Delay

Epilepsy

Dystonia

GNAO1

Developmental and Epileptic Encephalopathy 17

Choreoathetosis

Treatments

Drug: Zinc Acetate Dihydrate

Study type

Interventional

Funder types

Other

Identifiers

NCT06412653

Uni-Koeln-5275

Details and patient eligibility

About

The goal of this clinical trial is to investigate feasibility and safety of an oral therapy with zinc in patients affected by Guanine nucleotide-binding protein G(o) subunit alpha (GNAO1) associated disorders.

The main questions it aims to answer are:

Is a daily oral therapy with zinc in GNAO1 associated disorders a safe and feasible therapy?
Are there potential changes in general motor skills, general behaviour and well being, day/night rhythm, level of dyskinesia and dystonia, frequency of seizures, quality of life and changes in the microbiome of the patients.

Participants with GNAO1 associated disorders will be given an oral zinc therapy for 6 month and will be assessed in 3 visits and 2 phone calls within this trial.

Enrollment

12 estimated patients

Sex

All

Ages

6 months to 30 years old

Volunteers

No Healthy Volunteers

Inclusion criteria

GNAO1 associated neurological disorder, documented by either
- Proven pathogenic or likely pathogenic mutation in GNAO1 or
- a variant of unknown significance in GNAO1 and clinical symptoms likely to be consistent with GNAO1 as determined by the investigators and
- at least one of the common symptoms of GNAO1: Movement disorder (Dystonia, Chorea, Ataxia, clonic), central muscular hypotonia, epilepsy, global developmental delay
Age: 6 month - 30 years
GMFM ≤ 75
written informed consent prior to any trial-related procedure (according to age and status of psycho-intellectual development)
- of parents or legal guardian
- of parents or legal guardian and patient
- of the patient
stable on following concomitant treatments for at least 3 months prior to trial inclusion: anti-seizure drugs (ASD); baclofen, Deep brain stimulation settings

Exclusion criteria

Treatment of Zinc in the last 4 months before inclusion
known other genetic variants that are known to cause symptoms like observed in GNAO1-related disorders, additional to the proven GNAO1 mutation
implantation of Deep brain stimulation planned during the duration of the trial, i.e. in the six months after inclusion
start of intrathecal baclofen therapy planned during the duration of the trial, i.e. in the six months after inclusion
Known allergy/hypersensitivity to the scheduled trial drug
Concomitant participation in other clinical drugs with investigational drugs or with competing interventions
sexually active patients who are not willing to use/ not using a highly effective contraception method with a pearl-index < 1. Sexually active patients, unless surgically sterile, must be using a highly effective contraception method (including oral, transdermal, injectable or implanted contraceptives, intrauterine device (IUD), using a condom of the sexual partner or sterile sexual partner) and must agree to continue using such precautions during the whole study period.
Pregnant women and nursing mothers