A Clinical Study to Determine the Safety and Tolerability of Orally Administered 3,5-Diiodothyropropionic Acid in Patients with Allan-Herndon-Dudley Syndrome (6 month-2 years after commencement of treatment).

A Multi-Centre, Open-Label Study to Determine the Safety, Tolerability and Pharmacodynamics of Orally Administered 3,5-Diiodothyropropionic Acid (DITPA) in 10 Patients with Allan-Herndon-Dudley Syndrome (AHDS)

Status

Recruiting

Phases

Phase 2

Study type

Interventional

Source

ANZCTR

Registry ID

ACTRN12611001149954

Enrollment

Registered

2011-11-02

Start date

2011-11-23

Completion date

Unknown

Last updated

2020-01-13

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

Conditions

None listed

Brief summary

Allan-Herndon-Dudley Syndrome (AHDS) that is a rare condition that usually results in severe physical and mental impairment and for which no licensed treatment is available. The study aims to provide an experimental treatment for children with AHDS. It is proposed that the daily oral administration of a compound called 3-5,Diiodothyropropionic Acid (referred to as DITPA) be provided to children with AHDS as the experimental treatment. We hypothesise that DITPA will improve the symptoms and abnormal thyroid function associated with AHDS.

Interventions

DITPA (3,5-Diiodothyropropionic Acid). Doses ranging 1.5 to 4.75 mg/kg/day. Oral dosing with the daily dose divided into 3 equal parts at 8 hour intervals, for the duration of the study. Duration of study is 18 months. Dose changes will be at the discretion of the PI, on a case by case basis.

Study design

Allocation

Non-randomised trial

Intervention model

Single group

Primary purpose

Treatment

Masking

Open (masking not used)

Eligibility

Sex/Gender

Male

Age

0 to 12 Years

Healthy volunteers

Inclusion criteria

The protocol has not been registered elsewhere. 1. Proven mutation of the SLC16A2 / MCT8 Gene, with a presumptive diagnosis of MCT8 Deficiency made based on elevated fT3, decrease of serum rT3 concentrations, low fT4 in the blood. 2. Commenced on treatment of DITPA as per protocol DITPA 01-10 (HREC no. 10328B). The continuation will be a protocol titled "A Multi-Centre, Open-Label Study to Determine the Safety, Tolerability and Pharmacodynamics of Orally Administered 3,5-Diiodothyropropionic Acid (DITPA) in Patients with Allan-Herndon-Dudley Syndrome (AHDS) (6 months – 2 years after commencement of treatment)" 3. Medically stable according to the treating physician. 4. Informed parental consent.

Exclusion criteria

1. Other forms of hypo- or hyperthyroidism. 2. Critical clinical condition.

Outcome results