Clinical Research

Study Name: A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous AOC 1001 for the Treatment of Myotonic Dystrophy Type 1

Study Sponsor: Avidity Biosciences, Inc.

Study Type: Interventional

Study Status: Recruiting

Disease: DMI

Inclusion Criteria: Age: 16-65 years; Sex: all

Study Contact: Ellen Poppy, [email protected]

Principal Investigator: Georgios Manousakis, MD

Summary: A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC 1001) for the Treatment of Myotonic Dystrophy Type 1

More details available on ClinicalTrials.gov

Study Name: Phase I Clinical Trial of Cell Based Therapy for Duchenne Muscular Dystrophy

Study Sponsor: Masonic Cancer Center, University of Minnesota

Study Type: Interventional

Study Status: Recruiting

Disease: DMD

Inclusion Criteria: Age: 18+ years; Sex: all

Study Contact: Allison Johnston, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: This is a single-center, single-arm, interventional phase 1 trial to evaluate the safety and tolerability of local injection of induced pluripotent stem cell (iPSC)- derived CD54+ allogeneic muscle progenitor cells in individuals with Duchenne muscular dystrophy (DMD)

More details available on ClinicalTrials.gov

Study Name: An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy

Study Sponsor: PTC Therapeutics

Study Type: Interventional

Study Status: Enrolling by invitation

Disease: DMD

Inclusion Criteria: Age: all; Sex: male

Study Contact: Ellen Poppy, [email protected]

Principal Investigator: Peter Karachunski, MD

Summary: The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or treatment plan, and siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial).

The treatment will continue under this protocol until consent withdrawal by participants, withdrawal due to worsen condition after initiating ataluren treatment, withdrawal by investigator, withdrawal due to participant unable to tolerate ataluren, participant is eligible to participate in another ataluren nmDBMD clinical trial program initiated by sponsor, study is discontinued by the relevant regulatory authority and/or sponsor, or until ataluren becomes commercially available.

More details available on ClinicalTrials.gov

Study Name: A Phase 3 Randomized, Placebo-controlled, Double-blind Study to Evaluate the Efficacy and Safety of BBP-418 (Ribitol) in Patients With Limb Girdle Muscular Dystrophy 2I (LGMD2I)

Study Sponsor: ML Bio Solutions, Inc.

Study Type: Interventional

Study Status: Active, not recruiting

Disease: LGMD2I

Inclusion Criteria: Age: 12-60 years; Sex: all

Study Contact: Allison Johnston, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: This study will evaluate the safety and efficacy of long-term administration of BBP-418 in patients with LGMD2I/R9. The study will include patients ages 12 to 60, consistent with the existing preclinical toxicology profile. This will encompass the significant majority of existing diagnosed patients based upon the established epidemiology of the disease.

More details available on ClinicalTrials.gov

Study Name: Establishing Clinical Trial Readiness in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy (READY CMD LAMA2)

Study Sponsor: Nationwide Children's Hospital

Study Type: Observational

Study Status: Recruiting

Disease: LAMA2-RD

Inclusion Criteria: Age: 0-5 years; Sex: all

Study Contact: Ellen Poppy, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.

More details available on ClincalTrials.gov

Study Name: GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1

Study Sponsor: Virginia Commonwealth University

Study Type: Observational

Study Status: Recruiting

Disease: LGMDR1/LGMD2A

Inclusion Criteria: Age: 12-50 years; Sex: all

Study Contact: Allison Johnston, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: Limb girdle muscular dystrophies (LGMD) are a group of over 30 heterogenous genetic disorders which have in common a pattern of weakness affecting proximal muscles of the shoulders and hips. LGMD type R1 (LGMDR1; also LGMD2A) is due to loss of function of the muscle structural gene calpain 3 (CAPN3) and causes progressive weakness and muscle wasting, which can lead to loss of ambulation or the ability to maintain a job. LGMDR1 is one of the most common LGMDs in the United States and has no FDA approved therapies but is amenable to gene replacement strategies, regenerative medicine approaches, or myostatin based approaches. There have been rapid advances in gene delivery therapies for Duchenne Muscular Dystrophy and for LGMDR4 that have set the stage for targeted therapeutic development for all LGMDs, and LGMDR1 in particular is at a crossroads: the pace of therapeutic development has outstripped the efforts at clinical trial preparedness.

There is a need for a more rigorous natural history study to assist in the design of clinical trials; in particular, identifying biomarkers for early phase development and clinical outcome assessments (COAs) for drug approval studies.

More details available on ClincalTrials.gov

Study Name: Natural History Study for DNA Repair Disorders

Study Sponsor: University of Minnesota

Study Type: Observational

Study Status: Recruiting

Disease: DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).

Inclusion Criteria: Age: 6+ months; Sex: all

Study Contact: Seth Stafki, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD). Our hypothesis is that a reliable and reproducible baseline natural history course can be established for DNA repair disorders using the Early Childhood Assessment of Balance (ECAB) as a primary endpoint and other measures as secondary and exploratory endpoints that may be used in future therapeutic clinical trials.

More details available on ClincalTrials.gov

Study Name: Muscular Dystrophy Center Biorepository

Study Type: Patient Registry

Study Status: Recruiting

Disease: All muscle dystrophies & neuromuscular diseases

Inclusion Criteria: Age: all; Sex: all

Study Contact: Seth Stafki, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: This is a biorepository being managed at the University of Minnesota by the Greg Marzolf Jr. Muscular Dystrophy Center. The purpose of this study is to create and maintain an ongoing bank of biological samples and medical documents from individuals with neuromuscular diseases, including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Spinal Muscular Atrophy, and many more. These materials and records will then be de-identified and made available upon approval from our team for use by researchers at the University of Minnesota, for the purposes of studying these diseases. Clinical care will not be driven by the protocol. No additional visits or investigations will be performed beyond normal clinical practice. Participation after enrollment is indefinite.

Study Name: A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)

Study Sponsor: Novartis Pharmaceuticals

Study Type: Patient Registry

Study Status: Recruiting

Disease: SMA

Inclusion Criteria: Age: all; Sex: all

Study Contact: Seth Stafki, [email protected]

Principal Investigator: Peter Karachunski, MD

Summary: Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.

The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.

More details available on ClincalTrials.gov

Study Name: GRASP-LGMD: Defining Clinical Endpoints in LGMD

Study Sponsor: Virginia Commonwealth University

Study Type: Observational

Study Status: Active, not recruiting

Disease: Sarcoglycanopathies

Inclusion Criteria: Age: 4-65 years; Sex: all

Study Contact: Allison Johnston, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: Limb Girdle Muscular Dystrophy comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. The overall goal of project 1 is to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for limb girdle muscular dystrophies (LGMD) to hasten therapeutic development.

More details available on ClincalTrials.gov

Study Name: Defining Endpoints in Becker Muscular Dystrophy

Study Sponsor: Virginia Commonwealth University

Study Type: Observational

Study Status: Active, not recruiting

Disease: BMD

Inclusion Criteria: Age: 6+ years; Sex: male

Study Contact: Allison Johnston, [email protected]

Principal Investigator: Peter B. Kang, MD

Summary: Becker Muscular Dystrophy (BMD) is most frequently due to in-frame mutations in the dystrophin gene that are associated with reduced levels of frequently shortened dystrophin, though other mutations may be related to the Becker phenotype. There is wide variation in the age of onset and degree of progression, ranging from childhood to late adulthood. The more severe form of dystrophinopathy, Duchenne muscular dystrophy, has a more characteristic rate of progression and overall natural history. The wide variation in severity of progression has led to challenges in the design and conduct of approaching therapeutic trials. There is a need for a more rigorous natural history study to assist in the design of these promising therapeutic trials.

More details available on ClincalTrials.gov