PURA research & studies tracker

PURA Syndrome Patient Registry

Collects family-reported and clinical information across a lifetime to build the natural history of PURA syndrome, look at variant–symptom patterns and develop the measures a future clinical trial would use. Opened in 2026; eight languages.

Who: Families worldwide (account holder 18+). Free.
Run by: PURA Syndrome Foundation with COMBINEDBrain and Matrix
How to take part: Create an account at the registry and a free Clinical Research ID (CRID). Full steps are on the Foundation's registry page.

Sources: PSF registry page · Launch announcement, 25 Aug 2026 · checked 2026-11-01

PURA Biobank

Stores biological samples that researchers can use alongside registry data. The same CRID links a family's registry entries and biobank consent.

Who: Families who choose to donate samples; linked to the registry by CRID.
Run by: PURA Syndrome Foundation / COMBINEDBrain (US-based biorepository); PURA Biobank at Helmholtz Munich
How to take part: See the registry page for the biobank consent route.

Sources: PSF registry page · PURA Connect newsletter, Sept 2026 · checked 2026-11-01

PURA Syndrome Longitudinal Natural History Study (PURA Global Network)

Online medical questionnaires for families and clinicians to describe how PURA syndrome affects people over time. NIHR Be Part of Research lists recruitment from 28 Aug 2019 to 25 Apr 2049, but the University's project page currently shows the project as 'Not active' – so please check before signing up.

Who: Children and adults with a confirmed PURA variant or deletion (genetic report or clinician letter needed). Some countries excluded – see listing.
Run by: University of Southampton (Prof. Diana Baralle)
How to take part: Use the contact route on the NIHR listing.

Sources: NIHR Be Part of Research · University of Southampton project page · HRA research summary · checked 2026-11-01

DEER – Developmental and Epileptic Encephalopathy Research study

Aims to define the full spectrum of seizures and non-epileptic events in PURA syndrome, medications tried and developmental outcomes, and to identify outcome markers for future trials.

Who: People worldwide with confirmed PURA syndrome or 5q31.3 deletion including PURA, with or without epilepsy.
Run by: PURA Foundation Australia
How to take part: Via the PURA Foundation Australia DEER page.

Sources: PURA Foundation Australia · PSF open research projects · checked 2026-11-01

PURA Syndrome Disease Concept Model

A two-year project gathering feedback directly from families to guide care and decide which outcomes matter most for future clinical trials.

Who: PURA caregivers worldwide.
Run by: Study team at Vanderbilt (with the PURA Syndrome Foundation / COMBINEDBrain)
How to take part: Contact details are on the Foundation's open research projects page.

Sources: PSF open research projects · PURA Connect, Sept 2026 · checked 2026-11-01

Volumetrics Study in Rare Disorders (brain MRI)

Compares existing MRI scans across groups to find subtle, syndrome-specific brain differences. Families share a copy of an MRI they already have; data are anonymised.

Who: PURA individuals worldwide who have an existing brain MRI scan.
Run by: Dr Jeff Waugh, UT Southwestern (Dallas, USA)
How to take part: Contact details are on the Foundation's open research projects page.

Sources: PSF open research projects · checked 2026-11-01

Polish PURA natural history study

Combines medical record review, neurological examination and a 170+ question caregiver questionnaire; six families involved so far (as presented at the 2026 PURA conference).

Who: Families in Poland.
Run by: Fundacja PURA Polska
How to take part: Via Fundacja PURA Polska.

Sources: 2026 PURA conference programme · Fundacja PURA Polska · checked 2026-11-01

COMBINEDBrain EEG Bank and Mortality Study

Mentioned by the Foundation as upcoming research opportunities through its COMBINEDBrain partnership. Details not yet published.

Who: To be announced.
Run by: COMBINEDBrain, in partnership with the PURA Syndrome Foundation
How to take part: Watch the Foundation's newsletter.

Sources: PURA Connect, Sept 2026 · checked 2026-11-01

Drug or gene therapy clinical trials

As of 7 September 2026 RareTrial found no PURA studies registered on ClinicalTrials.gov. We will update this the moment that changes.

Who: —
Run by: —
How to take part: —

Sources: RareTrial (as of 7 Sept 2026) · checked 2026-11-01

Gene therapy dosing safety framework (mice)

Jack's Tomorrow and The Jackson Laboratory presented work at ASGCT 2026 defining preliminary tolerated dose ranges for delivering a human PURA gene in healthy mice. This is early laboratory research, not a treatment available to families.

Source: Jack's Tomorrow announcement · checked 2026-11-01

Pyridostigmine in PURA syndrome beyond infancy: a case series

A conference abstract in Neuromuscular Disorders describing a small number of patients. Case series cannot show a medicine works – please discuss any medicine only with your child's own doctors.

Source: Neuromuscular Disorders abstract · checked 2026-11-01 · Publisher blocks automated fetching; verified via search index on 2026-11-01.

Salbutamol and neuromuscular junction dysfunction in PURA syndrome

A report in Cureus describing benefit in selected patients. Prospective studies are still needed; this is not a recommendation.

Source: Cureus (DOI) · checked 2026-11-01 · Publisher blocks automated fetching; verified via search index on 2026-11-01.

GeneReviews: PURA-related neurodevelopmental disorders

The standard clinical summary for doctors, covering PURA syndrome and 5q31.3 deletion syndrome, with a table of recommended management. A good document to share with your child's team.

Source: GeneReviews (NCBI Bookshelf) · checked 2026-11-01

Clinical Considerations for PURA – a handout for clinicians

A five-page guide from the PURA Syndrome Foundation for any clinician caring for someone with PURA syndrome, in nine languages. Not a formal guideline – no consensus guidelines exist yet.

Source: PSF Resources page · checked 2026-11-01