Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy

Dakin A, Bogdanova-Mihaylova P, Walsh RA, Murphy SM, Ward D, Maher N, McCarthy CM. Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy. Int J Gynaecol Obstet. 2025 Jul 13. doi: 10.1002/ijgo.70361. Epub ahead of print. PMID: 40653762. 

Pregnancies complicated by chronic health conditions, such as FRDA, can pose clinical, logistical, and organizational challenges to optimize management and outcomes. We delineate the management challenges posed in the management of the largest Irish case series of pregnant patients with FRDA and extrapolate recommendations that can be applied to clinical practice through a literature review.

The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.

Conditions: Inclusion Body Myositis; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Facio-Scapulo-Humeral Dystrophy; Limb Girdle Muscular Dystrophies; Pompe Disease (Infantile-Onset); Myasthaenia Gravis; Lambert Eaton (LEMS); Spinal Muscular Atrophy (SMA); Guillain Barré Syndrome; Chronic Inflammatory Demyelinating Polyneuropathy; Friedreich Ataxia; Hereditary Motor and Sensory Neuropathies Interventions: Device: Assistive gait devices combined with physiotherapy Sponsors: LMU Klinikum 

Enrolling by invitation 

Last Update Posted 2025-07-18

The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb girdle and facioscapulohumeral muscular dystrophies, Pompe disease, Lambert-Eaton syndrome, myasthenia gravis, spinal muscular atrophy, Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy, Friedreich's ataxia and hereditary motor and sensory neuropathy

STRUCTURAL VALIDITY AND INTER-RATER RELIABILITY OF THE ATAXIA TRUNK, LOWER AND UPPER EXTREMITY SCALE (ATLAS) (ATLAS ReVA)

Conditions: Ataxia, Cerebellar; Ataxia, Gait; Ataxia, Motor; Ataxia; Ataxia, Spinocerebellar; Ataxias, Hereditary; Ataxia - Other Interventions: Other: New Scale to evaluate ataxia motor symptoms Sponsors: Haute Ecole de Santé Vaud 

Not yet recruiting 

Last Update Posted 2025-07-23

Ataxia is a neurological disorder affecting coordination, caused by damage to the cerebellum, brainstem, or related pathways. It can be hereditary (e.g., Friedreich's ataxia) or acquired (e.g., multiple sclerosis, stroke). Though rare, ataxia significantly impacts quality of life and independence. Treatments are limited and mainly focus on multidisciplinary rehabilitation. Accurate assessment is essential, yet current tools like Scale for the Assessment and Rating of Ataxia (SARA) have limitations. This study aims to validate a new scale, named the Ataxia Trunk, Lower And upper extremity Scale (ATLAS), through Rasch analysis, to develop a shorter, reliable version. It will assess internal consistency, construct validity, and inter-rater reliability

Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome. (CONNETTOMA)

Conditions: Friedreich's Ataxia; Motor Disorders Interventions: Device: HD-EEG recordings, combined with cognitive and motor assessment Sponsors: IRCCS Eugenio Medea 

Recruiting 

Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.

Design Therapeutics Highlights Progress Across Lead GeneTAC® Programs and Reports Second Quarter 2025 Financial Results

CARLSBAD, Calif., Aug. 07, 2025 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc.

Friedreich Ataxia (FA):

Today, Design announced early pharmacokinetics (PK) data for DT-216P2 demonstrating favorable translation from NHPs to humans with both intravenous (IV) and subcutaneous (SC) administration and an improved product profile compared to the prior DT-216 formulation (DT-216P1). 

Human plasma PK profiles of DT-216P2 were consistent with NHP data following both IV and SC single-dose administration. 

DT-216P2 exhibited improved exposure and PK parameters compared to DT-216P1, including higher AUC and sustained plasma levels at comparable doses. 

DT-216P2 has been generally well-tolerated, and based on clinical and non-clinical data, Design believes the injection site thrombophlebitis seen with DT-216P1 is no longer an issue limiting continued development of DT-216. 

In June, Design announced that it had received a clinical hold notice from the U.S. Food and Drug Administration (FDA) regarding its Investigational New Drug (IND) application for DT-216P2. FDA’s request pertains to the starting dose in the U.S., which the company plans to address with clinical data and, if needed, nonclinical data, in order to initiate studies for DT-216P2 in the U.S. Design continues to dose patients in its RESTORE-FA Phase 1/2 MAD trial of DT-216P2 outside the U.S.